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Department of Cellular and Molecular Medicine > Research Groups > Eiberg Group > Hans Eiberg > publications

1.  Eiberg H (1969). Keimung europäischer Erdorchideen. Die Orchidee 20, 266-270.

2.  Hahnemann N, Eiberg H, Sørensen SA (1972). Antenatal diagnosis and genetic counseling in a family with simultaneous occurrence of Down's syndrome and aberation of chromosome no 15. Bull. Europ. Soc. Hum. Gen. 94-95.

3.  Hahneman N, Eiberg H (1973). Antenatal genetic diagnosis in a kindred with a 15p+ chromosome. Clin. Genet. 4, 464-473.

4.  Skovby F, Eiberg H, Mohr J (1973). Identifikation af humane kromosomer. Ugeskrift for læger 135, 1671-1674.

5.  Eiberg H (1973). G, R and C banding patterns of human chromosomes produced by heat treatment in organic and inorganic salt solutions. Clin. Genet. 4, 556-562.

6.  Eiberg H (1974). New selective Giemsa technique for human chromosomes, Cd staining. Nature 248, 55.

7.  Eiberg H (1974). Satellite staining of human chromosomes.
  Lancet ii, 836-837.

8.  Mohr J, Eiberg H, Skude G (1976). Some lod scores concerning chromosome 1. Birth Defects 12, 340.

9.  Mohr J, Eiberg H (1976). Colton blood groups; linkage relations with nine marker systems. Clin. Genet. 10, 375.

10.  Mohr J, Eiberg H (1977). Colton blood groups: Indication of linkage with Kidd (Jk) system as support for assignment to chromosome 7. Clin. Genet. 11, 372-374.

11.  Eiberg H, Mohr J, Nielsen KR (1978). Neonatal and maternal lymphocytes in whole-blood cultures: Absence of strong interaction. Vox Sang. 35, 288-293.

12.  Eiberg H, Mohr J (1979). Distances within chromosome 1: Lod scores between TF-E1 and PGD, Rh, UMPK1, PGM1, AMY1+2 and Fy. HGM 5, Birth defects 15, 149-150.

13.  Eiberg H, Mohr J (1979). Linkage relations of the paraoxonase polymorphism with 43 marker systems. HGM 5, Birth Defects 15, 150.

14.  Mohr J, Eiberg H. 1979: Linkage relations of the ABH-secretor system with 33 other marker systems were considered in our family material. No. 604-1505. Birth Defects 15, 188.

15.  Eiberg H, Mohr J, Staub Nielsen L (1981). Genetics and linkage relations of plasminogen. Clin. Genet. 19, 500.

16.  Eiberg H, Mohr J (1981). Genetics of paraoxonase. Annals of Human Genetics 45, 323-330.

17.  Mohr J, Eiberg H, Nielsen LS (1981). Linkage relations of the ABH-secretor system; hint of assignment to chromosome 4. HGM 6, Birth Defects 18, 300.

18.  Eiberg H, Mohr J, Nielsen LS (1981). Linkage relations between the locus for transferrin (TF) and 48 markers. HGM 6, Oslo. Birth Defects 18, 271.

19.  Eiberg H, Mohr J (1981). Lod scores among Gc, PLG, MNSs, PON and C3. HGM 6, Oslo.  Birth Defects 18, 270.

20.  Eiberg H, Mohr J (1981). Linkage relations between PGP, E2, HP and K. HGM 6, Oslo. Birth Defects 18, 270.

21.  Eiberg H, Mohr J, Nielsen LS, Simonsen N (1981). Linkage relationship between the locus for C3 and 50 polymorphic systems: Assignment of C3 to the DM-Se-Lu linkage group: Confirmation of C3-LES linkage; support of LES-DM synteny. 6. Int. Cong Hum. Genet. (Jerusalem) p147.

22.  Eiberg H, Mohr J, Nielsen LS (1981). Linkage of orosomucoid (ORM) to ABO and AK1. HGM 6, Oslo. Birth Defects 18, 272.

23.  Habib Z, Eiberg H (1982). Determination of common haptoglobin phenotypes in Egyptians and Danes, by means of non-carcinogenic stain reagents. Hereditas 98, 219-223.

24.  Eiberg H, Mohr J, Nielsen LS (1983). D-aminolevulinate dehydrase: Synteny with ABO-AK-ORM (and assignment to chromosome 9). Clin. Genet. 23, 150-154.

25.  Eiberg H, Mohr J, Nielsen LS (1982). Indication of linkage between the PEPD locus and the C3-Le-DM-Se-Lu linkage group and support for assignment of this linkage group to chromosome 19. ESHG meeting Madrid . Clin. Genet. 23, 228.

26.  Nielsen LS, Eiberg H, Mohr J (1982). Another case of lymphocytotoxic antibody with blood group A1Le b and A Le d associated specificity. Tissue Antigens 21, 177-183.

27.  Eiberg H, Mohr J, Nielsen LS (1984). A2HS: New methods of phenotyping, and analysis of linkage relations. HGM7 Los Angeles. Birth Defects 20, 461.

28.  Eiberg H, Mohr J, Nielsen LS (1984). Synteny of plasma a-L-fucosidase (FUCA2) and the plasminogen (PLG) system. HGM7 Los Angeles. Birth Defects 20, 460.

29.  Eiberg H, Mohr J, Nielsen LS (1984). Linkage relations of human coagulation factor XIIIB. HGM7 Los Angeles. Birth Defects 20, 463.

30.  Eiberg H, Mohr J, Nielsen LS (1984). Various linkage relationships of GPT.  HGM7 Los Angeles. Birth Defects 20, 464-465.

31.  Eiberg H, Mohr J, Nielsen LS (1984). The b2-glycoprotein I (BG): Allele frequencies and linkage relationships. HGM7 Los Angeles. Birth Defects 20, 462.

32.  Eiberg H, Mohr J, Nielsen LS (1984). More data concerning linkage relationships of complement C6.  HGM7 Los Angeles. Birth Defects 20, 464.

33.  Nielsen LS, Eiberg H, Mohr J (1984). Data concerning the linkage relationship of the HLA and P systems. HGM7 Los Angeles. Birth Defects 20, 555.

34.  Eiberg H, Mohr J, Nielsen LS (1983). Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin. Genet. 24, 159-170.

35.  Eiberg H, Mohr J, Nielsen LS (1984). Linkage of plasma alfa-L-fucosidase (FUCA2) and the plasminogen (PLG) system. Clin. Genet. 26, 23-29.

36.  Eiberg H, Mohr J, Nielsen LS (1984). Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO.  Clin. Genet. 26, 385-388.

37.  Eiberg H, Mohr J, Nielsen LS (1984). Rare alleles and some linkage relationships of plasminogen and coagulation factor FXIIIB. Abstracts of the 18th Congress of the International Society of Blood Transfusion p75. hvor

38.  Eiberg H, Schmiegelow K, Koch C, Mohr J, Schwartz M, Niebuhr E, (1985). Cystic fibrosis; hint of linkage with F13B. Clin. Genet. 27, 206.

39.  Eiberg H, Mohr J, Nielsen LS (1985). Linkage relationships between the human Immunoglobulin-E polymorphism and marker systems. Cytogen. Cell Genet. 40, 622.

40.  Eiberg H, Mohr J (1985). Linkage data concerning the ADA-AHCY relationship. Cytogenet. Cell Genet. 40, 622.

41.  Mohr J, Eiberg H, Nielsen LS (1985). Various linkage relationships of the Dombrock blood group system. Cytogen. Cell Genet. 40, 701.

42.  Eiberg H, Smiegelow K, Niebuhr E, Phelan PD, Williamson R, Koch C, Mohr J (1985). Cystic fibrosis, linkage with PON. Cytogenet. Cell Genet. 40, 623.

43.  Niebuhr E, Eiberg H, Schousboe I (1985). Localisation of human F12, F13A and ACP1. Cytogenet. Cell Genet. 40, 714.

44.  Thymann M, Eiberg H (1985). Orosomucoid (ORM) polymorphism: Determination by separator isoelectric focusing and demonstration of ORM F subtypes. 11th Int. Congr. Soc. Forensic Haemogenetics, Copenhagen p 34.

45.  Eiberg H, Schmiegelow K, Niebuhr E, Phelan PD, Williamson R,  Koch C, Mohr J (1985). Cystic fibrosis, hint of linkage with F13B and PON. Clin. Genet 28, 429.

46.  Eiberg H, Mohr J, Schmiegelow K, Nielsen LS, Williamson R (1985). Linkage relationships of paraoxonase (PON) with other markers: Indication of PON-cystic fibrosis synteny. Clin. Genet. 28, 265-271.

47.  Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton RG, Schumm J, Eiberg H, Mohr J, Kennedy D et al. (1985). Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 240, 1054-1057.

48.  Wainwright B, Scambler PJ, Schmidtke J, Watson EA, Law  HT,Farrall M, Cooke HJ, Eiberg H, Williamson R (1985). Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature 318, 384-385.

49.  Thymann M, Eiberg H (1986). Orosomucoid polymorphism: determination by separator isoelectric focusing and demonstration of ORM F subtypes. In: Brinkmann B, Henningsen K (eds) Advances in forensic haemogenetics, vol 1. Springer, Berlin Heidelberg New York, p. 162-166.

50.  Nielsen A, Eiberg H, Fenger K, J Mohr (1986). Number of "high genes" involved in determining the activity of paraoxonase. Clin. Genet. 30, 41-49.

51.  Schmigelow K, Eiberg H, Tsui LC, Buchwald M, Phelan PD, Williamson R, Warwick W, Niebuhr E, Mohr J, Schwartz M, Koch C (1986). Linkage between the loci for cystic fibrosis and paraoxonase. Clin. Genet. 29, 374-377.

52.  Eiberg H, Schmiegelow K, Mohr J (1986). Mapping status of cystic fibrosis. Clin. Genet. 29, 458-459.

53.  Buckwald M, Zsiga M, Markiewicz D, Plavsic N, Kennedy D, Zengerling S, Willard HF,Tsipouras P, Schmiegelow K, Schwartz M, Eiberg H, Mohr J, Barker D, Donis-Keller H, Tsui LC (1986). Linkage of cystic fibrosis to the pro 2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet. Cell. Genet. 41, 234-239.

54.  Nielsen A, Eiberg H, Mohr J (1986). Number of loci responsible for the inheritance of high and low activity of paraoxonase. Clin. Genet. 29, 216-221.

55.  Skoda U, Bertrams J, Eiberg H, Dykes D, Hobart M, Hummel K, Köhnl P, Mauff G, Nakamura S, Nishimukai H, Raum D, Tokunaga K, Weidinger S (1986). Proposal for the nomenclature of human plasminogen (PLG) polymorphism. Vox. Sang. 51, 244-248.

56.  Eiberg H, Møller N, Mohr J, Nielsen LS (1986). Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22. Clin. Genet. 29, 354-359.

57.  Eiberg H, Mohr J (1986). Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase (FGH) in red blood cells. Hum. Genet. 74, 174-175.

58.  Mohr J, Eiberg H (1986). Esterase D (ESD) and S-formylglutathione hydrolase (FGH) 
polymorphisms: identity in red blood cells. 7th. Inter. Cong. of Hum. Genet. Berlin pp. 422.

59.  Eiberg H, Møller N, Niebuhr E, Nielsen LS, Mohr J (1986). Linkage of green/blue eye colour (GEY),hair color to blood group LU-SE and transcobalamin II to blood group P. 7th Inter. Cong. of Hum. Genet. Berlin, pp. 623-624.

60.  Eiberg H, Mohr J (1987). Major genes of eye color and hair color linked to LU and SE. Clin. Genet. 31, 186-191.

61.  Keats BJB, Ward LJ, Lu M, Krieger S, Wilensky MA, Forster-Gibson CJ, Roy M, Monte M, Barbeau A, Simpson NE, Eiberg H, Tippett P, Williamson R, Chamberlain S (1987). Linkage studies of Friedreich ataxia by means of blood-group and protein markers. Amer. J. Hum. Genet. 41, 627-634.

62.  Eiberg H, Mohr J (1987). Major locus for red hair colour linked to MNS blood groups on chromosome 4. Clin. Genet. 32, 125-128.

63.  Bisgaard ML, Eiberg H, Møller N, Niebuhr E & Mohr J. (1987) Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material. Clin. Genet. 32, 118-119.

64.  Eiberg H, Bixler D, Nielsen LS, Cornnelly M & Mohr J (1987). Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin. Genet. 32, 129-132.

65.  Shaw D, Eiberg H (1987). Report of the committee for chromosomes 17, 18 and 19. Cytogenet. Cell Genet. 46, 242-256.

66.  Eiberg H, Mohr J (1987). Major locus for red hair colour linked to MNS blood groups on chromosome 4. Cytogenet. Cell Genet 46, 610.

67.  Eiberg H, Mohr J (1987). Linkage between complement factor H (HF) and blood clotting factor XIIIb (F13B). Cytogenet. Cell Genet. 46, 610.

68.  Eiberg H, Nielsen LS, Bixler D, Cornnelly M, Mohr J (1987). Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Cytogen. Cell Genet. 46, 609.

69.  Bisgaard ML, Eiberg H, Mohr J (1987). The HGM9 meeting Ugeskrift for læger. 149 (46), 3119.

70.  Eiberg H, Marner E, Rosenberg T, Mohr J (1988). Marner's cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin. Clin. Genet. 34, 272-275.

71.  Møller HU, Eiberg H, Kruse T (1989). Linkage relations of the locus for granular corneal dystrophy Groenouw type I with 35 polymorphic systems. Acta Ophth. 67, 721-723.

72.  Eiberg H, Nielsen LS, Klausen J, Dahlen M, Kristensen M, Bisgaard ML, Møller N, Mohr J (1989). Linkage between serum cholinesterase 2 (CHE2) and g-crystalline gene cluster (CRYG): assignment to chromosome 2. Clin. Genet. 35, 313-321.

73.  Eiberg H, Marner E, Rosenberg T, Mohr J (1989). Linkage studies using protein, enzyme and blood group markers: Marner's cataract (zonular) linked to haptoglobin on chromosome 16. Clin. Genet. 35, 214.

74.  Eiberg H, Nielsen LS, Bisgaard ML, Mohr J (1989). Serum  cholinesterase 2 (CHE2): linkage to g-crystalline gene cluster (CRYG): and assignment to chromosome 2. Cytogenet. Cell Genet. 51, 994.

75.  Eiberg H, Nielsen LS, Gahne B, Juneja RK, Mohr J (1989). Exclusion data for the  alfa1-B glycoprotein (A1BG) polymorphism. Cytogenet. Cell Genet. 51, 994.

76.  Eiberg H, Nielsen LS, Mohr J (1989). Exclusion mapping of apolipoprotein H (APOH) and relationship between electrophoretic and quantitative polymorphism. Cytogenet. Cell Genet. 51, 994.

77.  Eiberg H, Gardiner RM, Mohr J (1989). Batten disease (Spielmeyer-Sj›gren disease) and haptoglobins (HP): Indication of linkage and assignment to chr. 16. Cytogenet. Cell Genet. 51, 994.

78.  Marner E, Rosenberg T, Eiberg H (1989). Autosomal dominant congenital cataract: Morphology and genetic mapping. Arch. Ophthalmol. 67, 151-158.
 
79.  Eiberg H, Gardiner RM, Mohr J (1989). Batten disease (Spielmeyer-Sj›gren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16. Clin. Genet. 36, 
217-218. 

80.  Eiberg H, Bisgaard ML, Mohr J (1989). Linkage between a1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetics variants of A1BG. Clin. Genet. 36, 415-418.
 
81.  Blanton SH, Sarfarazi M, Eiberg H, de Grote J, Farndon PA, Kilpatrick MW, Child AH, Pope FM, Peltonen L, Francomano CA, Boileau C, Keston M, Tsipouras P (1990). An exclusion map of Marfan syndrome. J. Med. Genet. 27, 73-77. 

82.  Gardiner M, Sandford A, Deadman M, Poulton J, Cookson W, Reeders S, Jokiaho I, Peltonen L, Eiberg H, Julier C (1990). Batten disease (Spielmeyer-Vogt disease; juvenile onset neuronal ceroid-lipofuscinosis) maps to human chromosome 16. Genomics 8, 387-390.

83.  Nørby S, Schwartz M, Eiberg H (1990). Search for a second locus of ADPKD. (abstract) in application for the workshop on hereditary polycystic kidney disease. Paris 7-8 june, 1990.

84.  Nielsen LS, Eiberg H, Fenger K, Mohr J (1990). A MHC (HLA-A, -B, C2, BF, HLA-DR, GLO1) haplotype study of 497 Danish normal families with 1970 children including 97 twin pairs. Tissue Antigens 36, 141-148.

85.  Farrar JG, McWillam P, Bradley DG, Kenna P, Sharp EM, Humphries MM, Lawler M, Eiberg H, Heckenlively JR, Conneally PM, Trofatter JA, Daiger SP, Humphries P (1990). Dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomic 8, 35-40.

86.  Eiberg H, Nielsen IM (1991). Linkage studies on cholestasis familiaris Groenlandica (CFG) with polymorphic protein and blood group markers. Clin. Genet. 40, 103.
 
87.  Eiberg H, Marner E, Rosenberg T, Mohr J (1991). RFLP typing of a family with Marners cataract. Clin. Genet. 40, 102.

88.  Gardiner RM, Eiberg H, Mohr J, Sutherland GR, Hyland V, Romeo S, Ceccherini I, Julier C (1991). Batten disease maps to chromosome 16. Clin. Genet. 40, 98.
 
89.  Eiberg H, Mohr J, Bisgaard ML, Shen L (1991). Linkage study of complement C6 (C6) on chromosome 5. Cytogenet. Cell. Genet. 58, 1895.

90.  Eiberg H, Mohr J (1991). Exclusion mapping of inter-alpha-trypsin inhibitor (ITI). Cytogenet. Cell Genet. 58, 2099.

91.  Eiberg H, Mohr J (1991). Location of Secretor (SE) and Lutheran (LU) on the long arm of chromosome 19. Cytogenet. Cell Genet. 58, 2019.

92.  Lund AM, Eiberg H, Rosenberg T, Warburg M (1992). Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. Clin. Genet. 41, 65-69.

93.  Bisgaard ML, Büllow S, Winther K, Eiberg H, Niebuhr E, Mohr J (1992). Præklinisk og prænatal diagnostik af familiær adenomatøs polypose. Ugeskrift for læger. 154, 921-924.

94.  James WH, Nielsen LS, Fenger K, Eiberg H, Mohr J (1992). Sex ratios, HLA markers, and rheumatic diseases. Ann. Rheum. Diseases. 51, 1098.

95.  Milman N, Eiberg H, Thyman M, Fenger K (1992). Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects. Human Genet. 88, 475-6.

96.  Andresen E, Eiberg H, Poulsen PH, Thomsen PD (1990). Comparative genetics of the malignant hyperthermia syndrome: History, status and perspectives (abstract).
 
97.  Andersen BS, Kølvraa S, Bross P, Bolund L, Curtis D, Eiberg H, Zhang Z, Kelly DP, Strauss AW, Gregersen N (1993). A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene. Human Mol. Genet. 2, 4

98.  Berendt I, Eiberg H, Shen Y, Marner E, Rosenberg T, Mohr J (1992). Typing with two 
polymorphic PCR systems close to Marner's cataract on chromosome 16. ESHG 1992, Oslo (abstract).

99.  Eiberg H, Mohr J (1992). Curly hair linked to red hair colour (HCL2) on chromosome 4q. ESHG 1992, Oslo (abstract)

100. Eiberg H, Nielsen IM (1993). Linkage studies of Cholestasis Familiaris Groenlandica/ Byler-like disease, with polymorphic protein and blood group markers. Human Heredity 43, 250-256.

101. Eiberg H, Møller HU, Berendt I & Mohr, J. (1994). Assignment of granular corneal dystrophy Groenouw type I (CDGGI) to chromosome 5q. Eur. J. Hum. Genet. 2, 132-138.

102. Eiberg H, Ewald H, Mors O (1993). Suggestion of linkage between manic-depression and phosphoglycolic phosphorylase (PGP) on chromosome 16. Clin Genet 44, 254-257.

103. Ewald H, Mors O, Eiberg H (1994). Linkage analysis between manic-depressive illness and 35 classical markers. Neuropsychiatric Genet. 54, 144-148.

104. Eiberg H, Møller HU, Berendt I (1993). Assignment of Groenouw's granular corneal dystrophy (GGCD1) to chromosome 5q, linkage to IL9 and D5S119. ESHG meeting 1993, Barcelona (abstract).

105. Eiberg H, Berendt I, Mohr J (1993). Psoriasis and markers in a material of random families; suggestion of linkage to IGK locus on chromosome 2. ESHG meeting 1993, Barcelona (abstract).

106. Eiberg H, Ewald H, Mors O, Berendt I, Mohr J (1993). Suggestion of linkage between manic-depressive illness and a classical marker. ESHG meeting 1993, Barcelona (abstract).

108. Williams R, Orvis J, Jarvela I, Eiberg H, Peltonen L, Gardiner RM (1993). Linkage analysis of classical late infantile neuronal ceroid lipofuscinosis. The second international Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majvik 23-26 maj 1993, Finland (abstract).

109. Gall, A, Rosenberg T, Piczenik Y, Eiberg H (1994). Gene for autosomal congenital stationary night blindness maps to the same regions as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase on chromosome 4p16.3. Hum. Mol. Genet. 3, 323-325.

110. Ewald H, Mors O, Flint T, Eiberg H, Kruse TA (1994). Linkage analysis between manic depressive illness and the dopamine beta-hydroxylase gene. Psychiatric Genetics 4, 177-183.

111. Eiberg H, Møller HU, Berendt I, Mohr J (1993). Assignment of granular corneal dystrophy Groenouw type I (CDGGI) to chromosome 5q. Close linkage to IL9 and D5S210. HMG12, Japan 1993

112. Eiberg H, Kjer B, Kjer P, Rosenberg T (1994). Dominant Optic Atrophy (OPA1). I) 
Linkage analysis: Assignment to chromosome 3q region. Hum. Mol. Genet. 6, 977-980.

113. Eiberg H, Lund AM, Warburg M, Rosenberg T.(1995) assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.3. Human Genetics 96, 33-38.

114. Eiberg H, Berendt I, Mohr J. (1995) Assignment of dominant inherited nocturnal enuresis to chromosome 13q, Nature Genetics 10,354-356.

115. Ewald H, Mors O, Flint T, Friedrich U, Eiberg H, Kruse TA (1995).
Linkage analysis between manic-depressive illness and markers from the long arm of chromosome 11. Amer. J. Med. Genet. (Neuropsychiatric Genet.) 60, 386-392.

116. Ewald H, Eiberg H, Mors O, Flint T, Kruse TA (1995). A linkage study between manic-
depressive illness and chromosome 21. Amer. J. Med. Genet. (Neuropsychiatric Genet.) (in press).

117. Ewald H, Eiberg H, Mors O (1995). A search for genes predisposing to manic-depressive illness on chromosome 20. Amer. J. Med. Genet. (Neuropsychiatric Genet.) 5, 105-111.

118. Ewald H, Mors O, Flint T, Koed K, Eiberg H, Kruse TA  (1995). A possible locus for 
manic-depressive illness on chromosome 16p13. Psychiatric Genet 5, 71-81.

119. Ewald H, Mors O, Eiberg H (1993). Linkage analysis between manic-depressive illness and 36 classical markers. Psychiatric Genet. 3, 149 (abstract).

120. Ewald H, Mors O, Flint T, Eiberg H, Kruse TA (1994). Linkage analysis between manic-depressive illness and selected markers. European Psychiatry. 9 (Suppl 1), 91 (abstract).

121. Ewald H, Mors O, Flint T, Koed K, Eiberg H, Kruse TA  (1995). A possible locus for 
manic-depressive illness on chromosome 16p13. Psychiatric Genet 5, S25 (abstract).

122. Ewald H, Eiberg H, Mors O, Flint T, Kruse TA (1995). A linkage study between manic-
depressive illness and chromosome 21. Psychiatric Genet 5, S81-S82 (abstract).

123. Eiberg H. (1995). Nocturnal enuresis is linked to a specific gene. Scandinavian J. Urology & Nephrology. sup 173, 15-17.

124. Eiberg H, Mohr J. (1996) Assignment of genes coding for brown eye colour and brown hair colour to chromosome 15q. Eur. J Human Genet 4, 237-241.

125. Jensen LG, Jensen HK, Heath F, Eiberg H, Kjeldsen M, Faergeman O, K›lvraa S, Bolund L, Gregersen N (1996) Allele-specific measurement of low density lipoprotein receptor transcript levels. Human Mutation 8:126-133.

126. Sharp JD, Wheeler RB, Savukoski M, Kestila M, Järvelä IE, Peltonen L, Eiberg H, 
Gardiner RM, Williams R. (1995) Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2). Eur. J Human, Genet. 3, 326-328.

127. Ewald H, Eiberg H, Mors O, Flint T, Kruse TA (1995). No evidence of linkage between 
manic-depressive illness and the dopa decarboxylase gene or nearby region on chromosome 7p. Neuropsychiatric Genet. 5, 161-169.

128. Kjer B, Eiberg H, Kjer P, Rosenberg T (1996). Dominant opticus atrophy mapped to 
chromosome 3q region. II. Clinical and epidemiological aspects. Arch. Ophthalmol. 74, 3-7.

129. Jonasdottir A, Berendt I, Kjer B, Kjer P, Rosenberg T, Eiberg H. Dominant optic atrophy (OPA1). Assingment to chromosome 3q28-3q29 region (1996). Workshop on Human Chromosome 3 Mapping 1995. Cytogenet Cell Genet 72, 255-270.

130. Eiberg H, Berendt I and Mohr J. Assignment of dominant inherited nocturnal enuresis to chromosome 13q. Proceedings of the third international children's continence symposium. Sydney 1995.  Wells Medical Limited, p153-157.


131. Eiberg H, Mohr J. (1996) Assignment of genes coding for brown eye colour and brown hair colour to chromosome 15q. 5Th Nordic Genome Initiative Workshop, Island (abstract).

132. Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPA1). Assingment to chromosome 3q28-3q29 region (1996). 5Th Nordic Genome Initiative Workshop, Island (abstract).

133. Eiberg H, Mohr J.(1996) Assignment of the gene coding for Dombrock blood group system (DO) to chromosome 12p. Human Genetics 98, 518-521.

134. Urhammer SA, Hansen T, Eiberg H, Pedersen O. Phenotype characteristics of two Danish Mody families with linkage to chromosome 12. 1996 EASD (Eur. Diabetes Congres, sept 1996) Wien (abstract)

135. Hansen T, Eiberg H, Urhammer SA, Pedersen O. Phenotype characteristic of two Danish Mody families with linkage to chromosome 12. VIth Int. Symp. Insuline Receptor & Insulin Action. København 1996 (abstract)

136. Eiberg H, Berendt I and Mohr J. Assignment of dominant inherited nocturnal enuresis to chromosome 13q. Evidence of genetics heterogeneity. HGM96 Heidelberg (abstract)
MODY3 mutation in the Hepatocyte Nuclear Factor-1a Gene. Diabetes 46, 726-730.

137  Ewald H, Mors O, Koed K, Eiberg H, Kruse TA (1997). Susceptibility loci for bipolar 
affective disorder on chromosome 18? A review and a study of Danish families. Psychiatric Genet.7, 1-12.

138  Tanaka K, Gregersen N, Ribes A, Kim J, K›lvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, Francois B, Pronicka E, Laszlo A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. (1998) A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey and Japan for the incidence of G985 variant allele at the medium chain Acyl-CoA dehydrogenase gene locus: Clinical significance and consideration for the evolutionary origin of the variant allele. Pediatr Res 41: 201-209.

139" Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T Refinement of the dominant optic trophy (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29 within a 3-Mb YAC contig (1997). Human Genetics 99, 115-120.

140" Eiberg H, den Tandt WR.(1997) Assignment of Human Plasma Chitinase to chromosome 1q by a linkage study. Human Genetics 101; 205-207.

141- Jonasdottir, Berendt I, Kjer B, Kjer P, Rosenberg T, Eiberg H. Dominant optic atrophy (OPA1). Assignment to chromosome 3q28-q29 region. 5 meeting in Danish Center of Human Genome Research. Århus dec. 1995 (abstract)

142  von Gontard A, Eiberg H, Hollmann E, Rittig S, Lehmkuhl G.(1997) Genetic heterogeneity in primary monosymptomatic nocturnal enuresis. Amer J Psychiatry 153, 885.

142a von Gontard, A, Hollmann E, Benden B, Eiberg H, Rittig S, Lehmkuhl G. (1997) Clinical enuresis phenotypes in familial nocturnal enuresis. Scand. J. Urol. Nephrol. 31 Suppl 183: 11-16.


143  Naylor S, Carritt B, Boileau C,,,,Jonasdottir A, et al.(1996) Report of the sixth 
international workshop on human chromosome 3 mapping 1995. Cytogen Cell Genet 72:255-270.

144  von Gontard A, Eiberg H, Hollmann E, Rittig S, Lehmkuhl G (1998) Molecular genetics of nocturnal enuresis: clinical and genetic heterogeneity. Acta Paediatrica 87, 571-8

145  Hansen T, Eiberg H, Rouard M, Vaxillaire M, M›ller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwald SM, Hansen L, Bell I, Pedersen O (1997) Novel MODY3 mutation in the Hepatocyte Nuclear Factor-1a Gene. Diabetes 46, 726-730.

146  Nielsen JE, Krabbe K, Jennum P, Koefoed P, Nerup Jensen L, Fenger K, Eiberg H, Hasholt L, Werdelin L, S›rensen SA (1998) Autosomal dominant pure spastic paraplegia: a clinical, paraclinical and genetic study. J Neurol Neurosurg Psychiatry 64: 61-66

147  Bennett PE, Weghuis DO, Merkx G, van Kessel AG, Eiberg H and Clausen H (1998) Genomic organisation and chromosomal localization of three members of the UDP-N-acetylgalactosamine: Polypeptide N-acetylgalactosaminyltransferase Family. Glycobiology 8: 547-555.

148  Corydon MJ, Andersen BS, Bross P, Kjeldsen M, K›lvraa S, Eiberg H, Gregersen N (1997). Genomic structure of the human short-chain acyl-CoA dehydrogenase (ACADS) gene. HGM97 (Abstract).

149  Corydon MJ, Andersen BS, Bross P, Kjeldsen M, Andreasen PH,, Eiberg H, K›lvraa S, Gregersen N (1997). Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mammalian Genome 8: 922-926

150  Edwald H, Eiberg H, Mors O, Kruse T. A search for genes predisposing to manic-depression on chromosome 11p. World Congres. 1997 (abstract)
 
151  Edwald H, Mors O, Kofoed K, Eiberg H, Kruse T. Susceptibility locus for bipolar affective disorder on chromosome 18?. 1997 (abstract)

152  Sørensen CB, Ladekjær-Mikkelsen AS, Andersen BS, Eiberg H, Kruse TA, Jensen PKA, Bolund L and Gregersen N. Molecular characterization of four new mutations in the genes for kreatinin 5 and 14 associated with the disease Epidermolysis Bullosa Simplex in 6 seemingly unrelated patients.(Amer Soc Human Genet 1997 (abstract)

153  Bennet EP, Hassan H, Mandel U, Mirgorodskaya E, Roepstorff P, Burchell J, Taylor-Papadimitriou J, Hollingsworth MA, Merkx G, van Kessel AG, Eiberg H, Steffensen R, Clausen H (1998) Cloning of a human UDP-N-acetyl-a-D-galactosamine: Polypeptide N- acetylgalactosaminyltransferase, GalNac-T4, that complements other GalNAc-transferases in complete O-Glycosylation of the MUC1 tandem repeat. J Biol Chem 273: 30472-30481.

154  Helin K, Holm K, (Niebuhr A), Eiberg E, (Tommerup N), Hougaard S, Poulsen HS, Spang-Thomsen M, Nørgaard P.(1997) loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma Proc Natl. Acad Sci USA. 94:6933-6938.

155  Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P,.. Eiberg H, et al.(1998) Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C>T, is present at an unexpectedly high frequency in the general population, as was the case for 625G>A, together conferring susceptibility to ethylmalonic aciduria. Hum. Mol. Genet. 7: 619-627.

156  Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sørensen SA (1997) CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Human Mol Genetics 6:1811-1816.

157  Sørensen CB, Ladekjær-Mikkelsen AS, Andersen BS, Brandrup F, Veien NK, Buus SK,
Anton-Lamprecht I, Kruse TA, Jensen PKA, Eiberg H, Bolund L and Gregersen N. (1999)
Identification of Novel and Known mutations in the genes for keratin 5 and 14 in Danish
patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype. J invest Dermatol 112:184-190

158  Hansen L, Hansen T, Urhammer SA, Eiberg H, Pedersen O. Mutational analysis of the
Human Insulin Promoter Factor-1 (IPF-1) in Danish Caucasian NIDDM families. Diabetes
(submit)

159  Urhammer SA, Hansen T, Clausen J, Eiberg H, Pedersen O.(1998) The g/a nucleotide variant at position -30 in the beta-cell specific glucokinase gene promoter has no impact on the beta-Cell function in Danish caucasians. Diabetes 47: 1359-1361

160  Eiberg H.(1998) Total genome scan analysis in a single extended family for primary nocturnal enuresis: evidence for a new locus (ENUR3) for primary nocturnal enuresis on chromosome 22q11. Eur Urol 33: 34-36.

161  Koefoed P, Hasholt L, Fenger K, Nielsen JE, Eiberg H, Buschard KS, Sørensen SA (1998). Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1. Human Genet. 103: 564-569.

163a Bross P, Gregersen N, Petersen P, Winter V, Nyholm M, Johansen BN, Corydon MJ,
Andresen BS, Eiberg H, K›lvraa S, (1998). Investigation of the consequences of two amino
acid polymorphisms in human electron transfer flavoprotein and assessment of their possible involvement as susceptibility factor in different patient groups. Society of the study of inborn errors of metabol. sept 1998. (abs)

163  Bross P, Petersen P, Winter V, Nyholm M, Johansen BN, Olsen KJ, Corydon MJ, Andresen BS, Eiberg H, K›lvraa S, Gregersen N (1999). A polymorphic variant in the human electron transferring flavoprotein a-chain (a-T171) displays decreased thermal stability and is over-represented in very-long-chain acyl-CoA dehydrogenase deficient patients with mild childhood presentation. Mol Genet and Metabol (in press).

164  Eiberg H, Dahl N, Arnell A, Hollmann E, Gontard A von, Mohr J.(1998) Assignment of a locus for monosymptomatic primary enuresis (ENUR3) to chromosome 22 by a total genome scan in a large Danish pedigree. HGM'98, 19 (abstract 79).

165  Gontard A von, Eiberg H, Hollmann E, Rittig S, Lehmkuhl G. Molecular genetics of
nocturnal enuresis- linkage to a locus on chromosome No. 22 (in press)

166  Urhammer SA, M›ller AM, Nyholm B, Ekstr›m CT, Eiberg H, Clausen JO, Hansen T,
Pedersen O, Schmitz O (1998) The effect of two frequent amino acid variants of the
hepatocyte nuclear factor-1alpha gene on estimates of the pancreatic beta-cell function in
Caucasian glucose tolerant first-degree relatives of type 2 diabetes patients. J Clin Endocrinol Metab. 83:3992-3995.

167  Dalgaard LT, Hansen T, Urhammer SA, Clausen JO, Eiberg H, Pedersen O.(1999)
Intermediate expressions of a GAA repeat in the Frataxin gene are not associated with type 2 diabetes mellitus or altered glucose-induced beta-cell function in Danish Caucasians. Diabetes 48: 914-917.

186  Kitsos G, Eiberg H, Economou-Petersen E, Tommerup N, Petersen MB, Psilas K. Genetic linkage of adult onset primary open angel glaucoma to chromosome 3q in a Greek pedigree. Amer Soc Human Genetics 1998 (abstracts).

169  von Gontard A, Eiberg H, Hollmann E, Rittig S, Lehmkuhl G. Molecular genetics of
Nocturnal enuresis. Cong. Psychiat. Genetics 1998, Bonn (abstracts)

170  von Gontard A, Eiberg H, Hollmann E, Rittig S, Lehmkuhl G. Associations between
genotype and behavioural phenotype in nocturnal enuresis. Cong. Behavior Genetics,
Baltimore 1998 (abstracts)

171  Hollmann E, von Gontard A, Eiberg H, Rittig S, Lehmkuhl G.(1998) Molecular genetic,
clinical and psychiatric associations in nocturnal enuresis. Brit. J. Urol. 81, Suppl. 3, 37-39.

172  Møller AM, Ek J, Durviaux SM, Urhammer SA, Clausen JO, Eiberg H, Hansen T, Rousseau GG, Lemaigre FP,Petersen O (1999). Hepatocyte nuclear factor-6: Studies of associations between Genetic variability and type 2 diabetes and intermediate prediabetic phenotypes. Diabetologia 42: 1011-1016.

173  Behrends S, Kazmierczak B, Steenpass A, Knauf B, Bullerdiek J Scholz H, Eiberg H (1999) Assignment of GUCY1B2, the gene coding for the beta2 subunit of human guanylyl cyclase to chromosomal band 13q14.3 between markers D13S168 and D13S155. Genomic 55: 126-127.

174  Eksandh L, Ponjavic V, Mole S, Munroe P, Eiberg H, Andreasson S, Ehinger B (1998) Full-field ERG in patients with Spielmeyer-Vogt/Batten disease caused by mutations in the CLN3 gene. ARVO 1999 (abstract).

175  Urhammer SA, Hansen T, Ekstrøm CT, Eiberg H, Pedersen O.(1998) The Ala/Val98 polymorphism of the Hepatocyte Nuclear factor-1? gene contributes to the interindividual variation in serum C-peptide response during an oral glucose tolerance test: Evidence from studies of 231 glucose-tolerant first degree relatives of type 2 diabetic probands. J Clin Endocrinol Metab. 83: 4506-4509.

176 Kitsos G, Eiberg H, Economou-Petersen E, Aspiotis M, Tommerup N, Petersen MB, Psilas K. (1999) Genetic linkage of adult onset primary open angle glaucoma to chromosome 3q in a Greek pedigree. J. Eur. Hum. Genet. 7. suppl. 1: P-543.

177 Eiberg H, Nielsen IM.(1999) Linkage of Cholestasis Familiaris Groenlandica/Byler disease to chromosome 18. J. Eur. Hum. Genet. 7.suppl. 1: P-532.

178 Eiberg H, Nielsen IM.(2000) Linkage of Cholestasis Familiaris Groenlandica/Byler disease to chromosome 18. Int. J Circumpolar Health. 59: 57-62.

(142a)
179 von Gontard, A, Hollmann E, Benden B, Eiberg H, Rittig S, Lehmkuhl G. (1997) Clinical enuresis phenotypes in familial nocturnal enuresis. Scand. J. Urol. Nephrol. 31 Suppl 183: 11-16.

180 Behrends S, Eiberg H, Scholtz H (1999) The human b2 subunit of nitric oxide sensitive guanylyl cyclase contains a C-terminal prenylation signal and is a candidate gene for familial nocturnal enuresis. Naunyn-Schmiedebergs Arch Pharmacology  (abstr)

181 Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, Tommerup N, Petersen MB, Psilas K. (1999) Genetic linkage of adult onset primary open angle glaucoma to chromosome 3q in a Greek pedigree. (in prep)  -> #189

182
157a Jensen PKA, Sørensen CB, Ladekjær-Mikkelsen AS, Andersen BS, Eiberg H, Kruse TA, Bolund L and Gregersen N. (1998) Molecular characterisation of four new mutations in the genes for keratin 5 and 14 associated with the disease epidermolysis bullosa simplex in 7 seemingly unrelated patients. J. Eur. Med. Genet. 6, suppl. 2: P1.006.

183 Echwald,SM, Hansen T, Ekstrøm CT, Urhammer SA, Eiberg H Pedersen O. (1999) Familiality of quantitative traits associated with the metabolic syndrome in normoglycaemic offspring of one type 2 diabetic parent. EASD (abs.)

184 Ekstrøm CT, Hansen T, Urhammer SA, Eiberg H, Holst JJ, Pedersen O. (1999) Familiality of quantitative traits derived during an oral glucose tolerance test in normoglycaemic relatives of one type diabetic 2 parent. EASD (abs.)

185 von Gontard A, Schaumburg H, Hollmann E, Eiberg H, Rittig S.(2001). The genetics of enuresis: a review. J.  Urol 166: 2438-43. (=165)

186 Eiberg H, Schaumburg HL, Rittig S, von Gontard A. Dominant inheritance of a gene which mainly causes urge incontinence in a large four generation Danish family. Denver Meeting aug. 1999 (abs.)

187 Sørensen CB, Ladekjær-Mikkelsen A-S, Andersen BS, Brandrup F, Veien NK, Buus SK, Kruse T, Jensen PKA, Eiberg H, Bolund L Gregersen N.(2000) Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype i danske patienter. Ugeskrift for Læger 162: 1873-1876.

188 Votruba M, Thiselton D, Moore AT, Shomi S, Bhattacharya SS, Rosenberg T, Eiberg H (1999) demonstration of a founder effect in British and Danish pedigrees mapping to the dominant optic atrophy locus on 3q28-qter. Amer J Hum Genet 65: (Suppl A451) 2561 (abs).

189 Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, Tommerup N, Petersen MB, Psilas K. (2001) Genetic linkage of adult onset primary open angle glaucoma to chromosome 3q in a Greek pedigree. Eur J Hum. Genetics 9: 452-457.

190 Hansen L, Jensen JN, Urioste S, Petersen HV, Pociot F, Eiberg H, Kristiansen OP, Hansen T, Serup P, Nerup J, DSGD, DIEGG, Pedersen O. (2000) NeuroD/Beta2 gene variability and Diabetes Mellitus: No associations to Late-Onset type 2 diabetes Mellitus but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Diabetes 49: 876-8.

192 Eksandh L, Ponjavic V, Munroe PB, Eiberg H, Uvebrant P, Ehinger B, Mole S, Andréasson (2000). Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genet. 21: 69-77. (1381-6810).

193 Klomp LWJ, Bull LN, Knisely AS, Doelen MAM, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RHJ (2000). A missense mutation in FIC1 is associated with Greenland Familial Cholestasis. Hepatology 32: 1337-41.

193 Klomp LWJ, Bull LN, Knisely AS, Doelen MAM, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RHJ (2000). Greenland Familial cholestasis is caused by a missense mutation in FIC1. (abstract)

194 Eiberg H,  Mohr J. (2000) A psoriasis susceptibility locus on chromosome 2q35  found by a genome-wide scan i a material of Danish random families. HGM2000 (abstract)

195 Eiberg H,  Edwards J. (2000) Sib similarity in Danish families. HGM2000 (abstract)

196 Hansen L, Urioste S, Petersen HV, Jensen JN, Eiberg H, Barbetti F, Serup P, Hansen T, Pedersen O (2000) Missense mutations in the Human insuline promotor factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians. J Clin Endocrinol Metab 85: 1323-1326.

197 Ek J, Andersen G, Urhammer SA, Eiberg H, Borch-Johansen K, Drivsholm T, Berglund L, Hansen T, Lithell H, Pedersen O (2001) Lack of association between the Pro12Ala polymorphism of the peroxisome proliferator activated receptor-y2 (hPPAR-y2) and insulin sensitivity or Type 2 diabetes mellitus in Scandinavian Caucasians. diabetologia (submit). Ej 2001-2003

197a Andersen G, Ek, Urhammer SA, Eiberg H, Borch-Johansen K, Drivsholm T, Hansen T, Pedersen O (2001) The Pro12Ala polymorphism of the peroxisome proliferator activated receptor-y2 is not associated with Type 2 diabetes mellitus. EASD  Jerusalem (abstract).

198 Eiberg H, Schaumburg HL, Rittig S, von Gontard A (2001) Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal.  J. Urology 166: 2401-3.

199 Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, BhattachatyaS, Votruba M. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet 2001 109: 498-502.

200 Eiberg H,  Hansen L, Hansen C, Teglbjerg PS, Mohr J, Kjær K. (2005) Assignment of a susceptibility gene (TRICY1) for hereditary trichilemmal cyst to chromosome 3p. Am J Med Genet. 133A: 44-47.

201 Hansen T, Ekstrøn CT, Urhammer SA, Major-Petersen A, Eiberg H, Holst JJ, Petersen O. Familiality of type 2 diabetes related quantitative traits. J C I (submit).

202 Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui M, Cui B, Xia Y, Lui L, Zhao G, Hayden MR, Kong X. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nature Genetics 31: 276-278 (2002).

203 Hansen S, Parrizas M, Jensen ML, Pruhova S, Ek J, Boj SF, Johansen A, Maestro MA, Rivera F, Eiberg H, Andel M, Lebl J, Pedersen O, Hansen T. (2002) Genetic evidence indicating that transcriptional control of HNF-4? by HNF-1? is essentiel for human pancreatic ? cell function. J Clinical Invest 110: 827-833.

204 Schaumburg H, Kapilin U, Blåsværd C, Eiberg H, Gontard A, Djurhuus C, Rittig S. Hereditary phenotypes in nocturnal enuresis (in prep).

205 Schaumburg H, Kapilin U, Blåsværd C, Eiberg H, Gontard A,  Rittig S.  A novel form of dominant nocturnal enuresis,- linkage to chromosome 17 in a large tree-generation family (in prep)

206 Buckvald F, Eiberg H, Bisgaard H.(2003) Heterogeneity of FeNO response to inhaled steroid in asthmatic children.  Clinical and experimental allergy. 33:12, 1735-1740.

207 Hansen T, Ekstrøm CT, Urhammer S, Major-Petersen A, Eiberg H, Holst JJ, Pedersen O. Familiarity of type 2 diabetes related quantitative traits.  J. Clin. Invest. 135-150.

208 Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sørensen SA (2003). A novel mutation in the e-sarcoglycan gene causing myoclonus-dystonia syndrome. Neurology 60: 1536-1539.

209 Nørremølle A, Hasholt L, Bie C, Eiberg H, Sørensen SA. (2004) Clinical discordancy in monozygotic twins displaying mosaicism of an expanded and an intermediate CAG-repeat allele in the Huntington disease gene. Am. J. Med Genet. 130: 154-159.

210 Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N (2004) Novel Connexin 43 (GJA1) mutation causes Oculo-Dento-Digital Dysplasia with curly hair. Am J Med Genet 127A:152-7.

211 Bor P, Hindkær J, Kølvraa S, Rossen P, Maase von der H, Jørgensen TM, Sørensen VT, Eiberg H, Ingerslev H. Screening for Y microdeletions in men with testicular cancer and undescended testes (submit).

212 Nielsen JE, Johansen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K,Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld J, Krarup K, Paulsen OB, Hasholt L, Sørensen SA.(2005). Hereditary spastic paraplegia with cerebellar ataxia: a new complex haplotype  associated with a new SPG4 gene mutation. Eur J Neurology (2004) 11: 817-824.

213 Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. Related Articles, Links . A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.  Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24.

214 Bak M, Hansen C, Henriksen KF, Hansen L, Pakkenberg H, Eiberg H, Tommerup N. (2004) Exclusion of Sonic hedgehog as a candidate gene for Parkinson's disease. Mol Brain Res 126: 207-211.

215 Hansen JJ, Bross P, Westergaard M, Nielsen MN, Eiberg H, Børglum AD, Mogensen J, Kristiansen K, Bolund L, Gregersen N (2003). Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Human Genet 112: 71-77.

216 Nielsen IM., Eiberg H,  Cholestasis Familiaris Groenlandica. Nuna Med 2000.(abstract  p.230-231)

217 Eiberg H, Nørgaard Petersen, Nielsen IM. Cholestasis Familiaris Groenlandica/Byler like disease. A population study (Abstract ICCH12-Nuuk 2003).

218 Eiberg H, Nørgaard Petersen, Nielsen IM. Cholestasis Familiaris Groenlandica/Byler like disease. A population study.  Int J Circumpolar Res. 2004,  186-187.

219 Milman N, Koefoed P, Pedersen P, Nielsen FC, Eiberg H, (2004) Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods Eur J Haematol. 71: 403-407.

220 Gao S, Worm J, Guldberg P, Eiberg H, Krogdahl A, Liu CJ, Reibel J, Dabelsteen E(2004) Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma. Int. J. Cancer. 109: 230-7.

221 Gao S, Worm J, Guldberg P, Eiberg H, Krogdahl A, Liu CJ, Reibel J, Dabelsteen E (2004) Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma Br J Cancer vol 1-5, p10.1038 –web 2004

222 Gao S, Worm J, Guldberg P, Eiberg H, Krogdahl A, Liu CJ, Reibel J, Dabelsteen E (2004) LOH  and hypermethylation of the APC gene - infrequent event in oral squamous cell carcinomas British J of cancer (2004) 1-5.

223 Olesen C, Silber J, Eiberg H, Ernst E, Petersen K Lindenberg S Tommerup N (2003) Mutation analysis of the human FATE gene in 144 infertile men Human Genetics 113: 195-201.

224 Kjaer KW, Hansen L, Schwabe GC, Marques-de-la Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause Ectodermal dysplasia, Ectrodactyly, Macular Dystrophy (EEM syndrome). J Med. Genet 2005 (in press)

225 Gao  S, Eiberg H, Krogdahl A, Liu C-J, Sørensen JA (2005) Cytoplasmic expression of E-Cadherin and ?- Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas. J Oral Pathol Med. 34: 116-9.

226  Eiberg  H,  Hansen L,  Kjer B,  Hansen T, Pedersen O,  Bille M, Rosenberg T, Tranebjerg L. (2006) Autosomal dominant optic atrophy associated with hearing impairment and  impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 43:435-440

227 Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjærg L, Rosenberg T. (2005)  Mutation analyse of the WFS1 gene in seven Wolfram Syndrome families; four new mutations identified. Eur J Hum Genet 13: 1275-1284.

228  Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup P (2005) A 72 years old Danish puzzle resolved: Genotype-Phenotype analysis in families with HOXD13 polyalanine expansions. Am J Med Genet 138A: 328-339.

229  Kjaer KW, Hansen L, Eiberg H, Christensen KS, Opitz JM, Tommerup N (2005) Male to male transmission in Laurin-Sandow Syndrome and exclusion of RARB and RARG. Am J Med Genet 137A: 148-152.

230   Singh R, Kolvraa S, Bross P, Christensen K, Gregersen N, Tan Q, Jensen UB, Eiberg H, Rattan SI. Heat-shock protein 70 genes and human longevity: a view from Denmark. Ann N Y Acad Sci. 2006 May;1067:301-8.

230a      Singh R, Kølvraa S, Bross P, Gregersen N, Jensen UB, Nexø BA, Frederiksen H, Christensen K, Eiberg H, Sild M, Knudsen C, Rattan SIS. Genetic polymorphism in heat shock protein gene 70 in association with human  longevity in Danish population. (Abstract)

231         Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Maréchal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Böck W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfützer R, Löhr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Güldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Férec C. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nature Genetics (2006) 38(6) 668-73. 

232         Kjer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. .  J Med Genet. 2006    Mar;43(3):225-31

233         Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel nonsense mutation in PAX9 is associated with  marked variability in number of teeth. Eur J Oral Sci. 2007 Aug;115(4):330-3.

234a      Kjær KW, Eiberg H, Tommerup N. Exclusion of  NOG as the cause of medial talus-calcaneus coalition with short stature: genetic heterogeneity in Tarsal-carpal Coalition syndrome (TCC). ESHG 2004 (abstract)

235         Nielsen I-M, Eiberg H. Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study. Int J Circumpolar Health 2004; 63 192-194.

236         Gjesing AP, Lansen LH, , Torekov SS, Hainerová I, Johansen A, Albrechtsen A, Nicot C, Holst B, Harper A, Urhammer AS, Black E, Hamid YH, Glümer C, Broch-Johnsen K, Jørgensen T, Holst JJ, Echwald SM, Eiberg H, Astrup A, Sørensen TIA, Lebl J, Ferrer J, Schwartz TW, Hansen T, Pedersen O.  Family and population-based studies of genetic variation in the ghrelin receptor locus and relationship to an increased susceptibility for obesity. PLoS One.2010 Apr 9;5(4):e10084. doi: 10.1371/journal.pone.0010084.

237         Margolin M, Eiberg H, Lindblom A, Bisgaard ML. CHEK2 1100delC in Swedish familial and sporadic breast cancer.  BMC Cancer  2007; 7: Art no 163

238         Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulus C, Ang D, Lundemose JB, Niezen-Koning K, Eiberg H, Yang H, Kølvraa S, Bolund L, Gregersen N. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
J Hum Genet. 2007;52(1):56-65

239         Hansen L, Yao W, Eiberg H, Kjaer K, Funding M, Hejtmancik JF, Rosenberg T. Family CC00103: the congenital “Ant-Egg-Cataract” phenotype is caused by a missense mutation in Connexin 46.  Journal: Molecular Vision 2006; 12: 1033-9

239a      Hansen L, Yao W, Eiberg H, Kjaer K, Funding M, Hejtmancik JF, Rosenberg T. Ant-egg cataract - Distinct phenotype for an autosomal dominant congenital cataract first described in a Danish family in 1967  (abstr 2006, ESHG)  

240         Jensen DJ, Urhammer AS, Eiberg H, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic trait: studies in 6018 whites.  Mol Genet Metab. 2006; 89: 360-367

241         Sanggard KM, Rendtorff ND ,Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lange K, Tranebjaerg L. Branchio-Oto-Renal Syndrome: Detection of EYA1 and SIX mutations in five out of six Danish families by combining linkage, sequencing and MPLA analysis. Europ. J Human Genet.  2007;15:1121–1131.

242         Gao S, Krogdahl A, Eiberg H, Liu CJ, Sørensen JA. LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas. J Oral Pathol Med. 2007 Mar;36(3):173-6

243a      Jensen DP, Andersen KL, Broch-Johnsen K, Jørgensen T, Maeda T, Nakamura Y, Hansen T, Pedersen O. Single nucleotide polymorphisms in the Krüppel-like factor 7 (KLF7) gene are involved in the pathogenesis of obesity (abstr 2006, Barcelona).

244a      Rosenberg T., Yao W, Eiberg H, Hejtmancik JF, Hansen L. Mutation analysis in a families with congenital cataract with and without microcornea (abstr 2006, ESHG)

245         Thiel S, Steffensen R, Christensen IJ, Lau YL, Reason IJL, Eiberg H, Gadjeva M, Ruseva M, Jensenius JC. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Immun. 2007 Mar;8(2):154-63.

246         Eiberg H, Troelsen J, Nielsen M, Mikkelsen A,  Mengel-From J, Kjaer KW, Hansen L.  Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 inhibiting OCA2 expression. Hum Genet 2008 Jan 3;; 123(2): 177-87

247         Kier-Swiatecka E, Kock M, Marker P, Eiberg H, Kjaer KW. The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype. Am J Med Genet A. 2007 Apr 15;143A(8):891-4.

248         Jensen DP, Andreasen CH, Andersen MK, Hansen L, Eiberg H, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites. J Mol. Medicine 2007, 85:445-9. 

249         Jakobsen LP, Ullmann R, Kjær KW, Knudsen MA, Tommerup N, Eiberg H.  Suggestive linkage to a neighbouring region of IRF6 in a cleft lip and palate multiplex family. Amer J Med Genet. 2007; 143A: 2716-21.

250         Kragelund C, Hansen C, Reibel J, Nauntofte B, Brøsen K, Pedersen AML, Smidt D, Eiberg H, Torpet LA. Oral lichen planus and polymorphisms of drug metabolising cytochrome P450 enzymes (CYP). (article in PhD thesis 2006).

251         Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Heitmancik JF, Rosenberg T. Genetic heterogeneity in microcornea-cataract. Five novel mutations in CRYAA, CRYGD and GJA8. Invest Ophthalmol Vis Sci. 2007; 48:3937-44.

252         Nielsen I-M, Kern P, Eiberg H. Fra forskning til forebyggelse – om 2 arvelige sygdomme I Grønland. Ugeskrift for Læger  2007; 169:1105.

253         Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Aguiar CC, Eiberg H, Andersen PS, Mors O, Brøndum-Nielsen K, Cotterill RMJ, Lundsteen C,  Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. Identification of several putative susceptibility genes for childhood autism. Eur J Human Genet. Eur J Hum Genet. 2008,16:312-9.

254         Medeiros F. Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jacobsen LP. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.. Am J Med Genet 2008;146A:1605-8.

255         Djureinovic T, Lindblom A, Dalen J, Dedorson S, Edler D, Hjern F, Holm J, Lenander C, Lindforss U, Lundqvist N, Olivecrona H, Olsson L, Pahlman L, Rutegard J, Smedh K, Tornqvist A, Eiberg H, Bisgaard ML.   The CHEK2 1100delC variant in Swedish colorectal cancer. Anticancer Res. 2006;26(6C):4885-8.

256         Gao S, Krogdahl A, Eiberg H, Liu CL, Sørensen JA. LOH at chromosome 9q34.3 and the Notch I gene methylation are less involved in oral squamous cell carcinomas. J Oral Pathol Med (2007) 36: 173-6.

257a      Hansen L, Eiberg H, Kjær KW, Rosenberg T. Congenital cataract – a national wide study in Denmark. ESHG 2007 (Abstract). 

258.        Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Hoffmann K, Jensen H,  Sørum C,   Rendtorff ND,  Tranebjærg L. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am. J Med Genet 2008  146A: 1017-25

259         Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, deLozier-Blanchet C, Lespinasse J, Tranebjaerg L, Hahnemann JMD, Rasmussen K, Pedersen GB, Duprez L, Tommerup N, Pedersen MB. Non-disjunction of chromosome 13. Human Molecular Genetics, doi:10.1093/hmg/ddm148 June 21, 2007. Hum Mol Genet 2007; 16: 2004-2010.

260a      Nielsen I-M, Kern P, Olsen B, Veje JO, Eiberg H. Den forebyggende undersøgelse af gravide for anlægsbærertilstand for cholestase (CFG) og propionsyreæmi (PCCB). NunaMed 2007 (Abstract).

261a      Harboe TL, Ejlertsen B, Nielsen I-M, Eiberg H, Bisgaard ML. Hyppigheden af arvelig disposition til bryst- og æggestokkræft i den sydøstgrønlandske befolkning. NunaMed 2007 (Abstract).

262         Ellard S, Thomas K, Edghil E L, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H,  Pedersen O, Shepherd MH, Hansen T, Harries L W, Hattersley AT. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young  Diabetologia 2007, 50: 2313-2317.

263         Gonsorcikova L, Pruhova S, Cinek O, Ek J, Pelikánová T, Eiberg H, Pedersen O, Hansen T and Lebl J. Two families with a novel H241Q mutation in NEUROD1 causing Mody diabetes. Pediatr Diabetes. 2008; 9:367-72.

264         Hansen L, Eiberg H, Rosenberg T. Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol. Vis. 2007;13:2019-22.

265       Muhammad F, Baig SM, Hansen L, Aslam M, Hussain MS, Rasool M,  Qureshi JA, Wajid M, Eiberg H, Tommerup N, Kjaer KW. Compound heterozygous ASPM mutations in Pakistani MCPH families.  J Mol. Genet A: 149A(5): 926-30.

266         Kragelund C, Hansen C, Reibel J, Nauntofte B, Broesen K, Pedersen AM, Smidt D, Eiberg H, Torpet LA. Polymorphic drug metabolizing CYP-enzymes--a pathogenic factor in oral lichen planus? J Oral Pathol Med. 2009 Jan;38(1):63-71. doi: 10.1111/j.1600-0714.2008.00702.x.

267         Mengel-From J, Børsting C, Sanchez J, Eiberg H, Morling N. Determination of cis/trans phase of variations in the MC1R gene with allele specific PCR and single base extension Electrophoresis 2008, 29: 4780-7.

268         Zobel DP, Andreasen CH, Burgdorf  KS,  Andersen EA, Sandbæk, A, Lauritzen T,  Broch-Johnsen K, Jørgensen T,  Eiberg E, Pedersen O, Hansen T. Variation in the gene encoding Krüppel-like factor 7 influence body fat accumulation: studies in 14,813 Danes. Eur J Endocrinol 2009. 160: 603-9

269         Zobel DP, Andreasen CH, Eiberg E, Sandbæk A,  Lauritzen T, Borch-Johnsen K, Jørgensen T,  Hansen T, and  Pedersen O. Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes. Diabetes 2009 58:757-64.

270         Hansen TVO, Bisgaard ML, Jønson L, Albrechtsen A, Filtenborg-Barnkob B, Eiberg H, Ejlertsen B, Nielsen FC. Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. BMC Medical Genetics 2008, 9:58      doi:10.1186/1471-2350-9-58 

271         Harboe TL, Eiberg H, Kern P, Ejlertsen B, Nedergaard L, Timmermans-Wielenga V, Nielsen IM, Bisgaard ML. A high frequent BRCA1 founder mutation identified in the Greenlandic population. Fam Cancer. 2009, 8: 413-419.  (2009 Jun 7. PMID: 19504351)

272         Bech S, Petersen T, Nørremølle A, Gjedde A, Ehlers L, Eiberg H, Hjermind LE, Hasholt L, Lundorf E, Nielsen JE. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. Parkinsonism Relat Disord. 2010 Jan;16(1):12-5. doi: 10.1016/j.parkreldis.2009.06.006.

273a      Hansen L, Riis AK, Eiberg H, Hove HD, Lauritsen E, Kreiborg S.  RUNX2 mutation analyses in 19 Danish families with Cleidocranial Dysplasia revealed two large deletions and 14 point mutations (ESHG abstract 2009)

274a      Hansen L, Riis AK, Lauridsen E, Eiberg H, Kreiborg S.  Analysis of RUNX2 in a Danish cohort of cleidocranial dysplasia patients revealed two large chromosomal deletions and 14 pathogenic point mutations. (ESHG abstracts 2008)

275a      Nielsen IM, Kern P, Eiberg H. From research to prevention in Greenland. Three years prenatal screening of pregnant women for two lethal autosomal recessive inherited diseases: Cholestasis familiaris groenlandica and Propionic Acedemia. (abs. ICCH14  Yellowknife 2009).

276a      Homøe P, Tranebjærg L, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Kock A. Polymorphisms and mutations in GJB2 associated with hereditary hearing loss in East Greenlanders . (abs. ICCH14  Yellowknife 2009).

277         Svenstrup K, Bross  P,  Koefoed P, Hjermind L, Eiberg H, Nørremølle A, Hasholt L, Nielsen JE Sequence variants and intra- and intergenic modifiers in the SPAST, SPG3A and HSPD1 genes in hereditary spastic paraplegia.  J  Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6.

278         Gjesing AP, Larsen LH, Torekov SS, Hainerová IA, Kapur R, Johansen A, Albrechtsen A, Boj S, Holst B, Harper A, Urhammer SA, Borch-Johnsen K, Pisinger C, Echwald SM, Eiberg H, Astrup A, Lebl J, Ferrer J, Schwartz TW, Hansen T, Pedersen O. Family and Population-based Studies of Variation within the Ghrelin Receptor Locus in Relation to Measures of Obesity. PLoS One. 2010 Apr 9;5(4):e10084.  doi:10.1371/journal.pone.0010084

279         Hansen L. , Mikkelsen A., Nürnberg P. , Nürnberg G., Anjum P, Eiberg H. and  Rosenberg T. Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract  Inv. Ophth. Vis. Sci.: 2009 50: 3291-3303. First Published on January 31 2009 as doi:10.1167/iovs.08-3149.

280         Farooq, M , Troelsen, JT , Boyd, M , Eiberg, H , Hansen, L , Hussain, MS , Rehman, SU , Azhar, A, Ali, A , Bakhtiar, SM , Tommerup, N , Baig, SM & Kjaer, KW 2010, ' Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS ' European Journal of Human Genetics , vol 18, nr. 6, s. 733-6., http://dx.doi.org/10.1038/ejhg.2009.225

281         Mengel-From J, Børsting C, Sanchez J, Eiberg H, Morling N. Human Eye colour and HERC2, OCA2 and MATP. Forensic Science Int. doi:10 1016/fsigen 2009.12.004. 12 jan 2010.  Genetics 4;  323-328 

282         Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family  Molecular Vision 2010; 16:549-555

283         Nielsen I-M, Kern P, Bisgaard ML, Eiberg H. Prænatal screening for leversygdommen (CFG) og stofskiftesygdommen (PCCB). Nakorsanut, 2010; 1: 12-17.

284         Riede F, Sørensen LMS, Eiberg H, Forster P. Using mtDNA to evaluate different pioneer colonization scenarios for prehistoric southern Scandinavia. Journal of  Nordic Archaeological Science (2013) 18: 3-11. 

285         Lauenborg J, Jørgensen MK, Damm P, Major-Pedersen A, Urhammer S, Eiberg H, Pedersen O, Hansen T. The influence of parental history of diabetes and offspring birth weight on offspring glucose metabolism in adulthood.  Acta Obstet Gynecol Scand. 2011 Dec;90(12):1357-63. doi: 10.1111/j.1600-0412.2011.01276.x.

286         Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S. RUNX2 analysis of Danish cleidocranial dysplasia families revealed both point mutations, large deletion and a duplication. Clin Genet. 2011 Mar;79(3):254-63. doi: 10.1111/j.1399-0004.2010.01458.x.

287         Pilgaard K,   Mosbech TH, Grunnet L, Eiberg H, Hall GV, Fallentin E, Larsen R, Poulsen P, Vaag A. Differential non-genetic impact of birth weight versus 3rd trimester growth velocity on glucose metabolism and abdominal adiposity as determined by magnetic resonance imaging in young healthy twins. J Clin Endocrinol Metab. 2011 Sep;96(9):2835-43. Epub 2011 Jul 6.

288         Rehman S, Baig SM, Eiberg H, Ahmad I, Malik NA, Tommerup N, Hansen L. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics 2011 , vol 12, nr. 3, s. 247-51., http://dx.doi.org/10.1007/s10048-011-0286-5

289         Eiberg H, Hansen L, Korbo L, Nielsen I-M, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome Clin Genet 2012:82: 256-263. http://dx.doi.org/10.1111/j.1399-0004.2011.01745.x

290         Jakobsen, LP , Bugge, M , Ullmann, R, Schjerling, CK, Borup, R , Hansen, L , Eiberg, H & Tommerup, N2011, ' 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip ' American Journal of Medical Genetics. Part A , vol 155, nr. 3, s. 652-5., http://dx.doi.org/10.1002/ajmg.a.33855

291        Nielsen TT, Svenstrup K, Budtz-Jørgensen E, Eiberg H, Hasholt L, Nielsen JE. ATXN2 with Intermediate-   length CAG/CAA repeats does not seem to be a risk factor in Hereditary Spastic Paraplegia.  Journal of the Neurological Sciences.   08/2012; 321(1-2):100-2. DOI:10.1016/j.jns.2012.07.036

292         Sajid Hussain, M , Bakhtiar, SM , Farooq, M , Anjum, I , Janzen, E, Reza Toliat, M , Eiberg, H , Kjaer, KW, Tommerup, N , Noegel, AA, Nürnberg, P, Baig, SM & Hansen, L 2013, ' Genetic heterogeneity in Pakistani microcephaly families ' Clinical Genetics , vol 83, nr. 5, s. 446-51., http://dx.doi.org/10.1111/j.1399-0004.2012.01932.x

293         Gjesing AP1, Ekstrøm CT, Eiberg H, Urhammer SA, Holst JJ, Pedersen O, Hansen T. Fasting and oral glucose-stimulated levels of GIP and GLP-1 are highly familial traits. Diabetologia. 2012 May;55(5):1338-45. doi: 10.1007/s00125-012-2484-6.

294         Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K . Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65.

295         Sanggard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S et al. Branchio-Oto-Renal Syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, sequencing and MLPA analyses . European journal of human genetics. 2007;(11):1121-31.

296         Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007;15:1121-31.

297         Homøe P, Koch A, Rendtorff  ND, Lodahl  M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L. GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland. Int J Audiol. 2012;51:433-6.

298         Jakobsen LP, Pfeiffer P, Andersen M,  Eiberg H, Hansen L, Mang Y, Bak M, Møller RS, Klitten LL, Tommerup N. Genetic Studies in Congenital Anterior Midline Cervical Cleft. Clinical Report to American Journal of Medical Genetics. Part A, Vol. 158A, Nr. 8, 08.2012, s. 2021-6.

299         Lund M, Diaz LJ, Ranthe MF, Petri H, Duno M, Juncker I, Eiberg H, Vissing J, Bundgaard H, Wohlfahrt J, Melbye M. Cardiac involvement in myotonic dystrophy: a nationwide cohort study. Eur Heart J 2014; [Epub ahead of print].

300         Ghisari M, Eiberg H, Long M, Bonefeld-Jørgensen EC. Polymorphisms in Phase I and Phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women Environmental Health 2014, 13:19 doi:10.1186/1476-069X-13-19

301         Lund M, Diaz LJ, Gørtz S, Feenstra B, Duno M, Juncker I, Eiberg H, Vissing J, Wohlfahrt J, Melbye M. Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study.Eur J Neurol. 2014 May 17. doi: 10.1111/ene.12466.

302         Gjesing AP,  Ekstrøm CT, Eiberg H, Urhammer SA,  Holst JJ, Pedersen O,  Hansen T. Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial trait. Diabetologia. 2014 Jun;57(6):1173-81. doi: 10.1007/s00125-014-3207-y. Epub 2014 Mar 7.

303         Dad Shzeena, Østergaard Elsebet, Wadt Karin, Jytte Lunding, Eiberg Hans and Møller Lisbeth Birk. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family. Clin Genet. 2014 Apr;85(4):390-2. doi: 10.1111/cge.12161. Epub 2013 Apr 29.

304         Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D. The myosin chaperone UNC45B is involved in lens development and autosomal dominant infantile cataract. Eur J Hum Genet. 2014 Feb 19. doi: 10.1038/ejhg.2014.21.

305         Besenbacher S, Liu S, Izarzugaza JM, Grove J, Belling K, Bork-Jensen J, Huang S, Als TD, Li S, Yadav R, Rubio-García A, Lescai F, Demontis D, Rao J, Ye W, Mailund T, Friborg RM, Pedersen CN, Xu R, Sun J, Liu H, Wang O, Cheng X, Flores D, Rydza E, Rapacki K, Damm Sørensen J, Chmura P, Westergaard D, Dworzynski P, Sørensen TI, Lund O, Hansen T, Xu X, Li N, Bolund L, Pedersen O, Eiberg H, Krogh A, Børglum AD, Brunak S, Kristiansen K, Schierup MH, Wang J, Gupta R, Villesen P, Rasmussen S. Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nature Communication, 19 jan. 2015 I : Nature Communications. 6, s. 5969.

306a      Bugge M, Nielsen IM, Eiberg H. Arvelige faktorers betydning for gastroschise. NunaMed 2013(abstracts)

307a      Nielsen IM Eiberg H. Syv års screening for CFG og PCCB. NunaMed 2013 (abstract).

308          Gjesing, A. P., Ribel-Madsen, R., Harder, M. N., Eiberg, H., Grarup, N., Jørgensen, T., Ekstrøm, C. T., Pedersen, O. & Hansen, T. Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data 9  feb. 2015 I : Diabetologia. 

309         Silahtaroglu AN,  Kim H-G, Tumer Z, Hansen C, Henriksen KF, Guldberg P, Moller M,  Deloukas P,  Eiberg H, (Kauppinen S) ,Nielsen J, Hertz JM,  Bugge M,  Ropers H-H,       Tommerup N and Vera M. Kalscheuer. Translocation (8;20) results in altered methylation of a CpG island within DLGAP4 gene in a family with  early-onset, non-progressive cerebellar ataxia. Human Molecular Genetics . 07/2014; 23(23).DOI: 10.1093/hmg/ddu337

310         Gjesing AP, Hornbak M, Allin KH, Ekstrøm CT, Urhammer SA, Eiberg H, Pedersen O,  Hansen T. High heritability and genetic correlation of intra-venous glucose- and tolbutamide-induced insulin secretion. Diabetica  Diabetologia. 2014 Jun;57(6):1173-81. doi: 10.1007/s00125-014-3207-y. Epub 2014 Mar 7.

311         Minocherhomji S , Hansen  C, Kim H-G , Mang  Y, Bak M, Guldberg  P,  Papadopoulos  N, Eiberg  H, Dayebga Doh G , Møllgård K , Hertz JM, Nielsen JE , Ropers H-H , Tümer Z , Tommerup N , Kalscheuer VM , and Silahtaroglu A. Epigenetic remodeling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia Hum. Mol. Genet. (2014) 23 (23): 6163-6176  first published online July 1, 2014 doi:10.1093/hmg/ddu337

312         Laura Aviaja Rudkjoebing, Hans Eiberg, Hanne B. Mikkelsen, Marie Louise Mølgaard Binderup and Marie Luise Bisgaard. The analysis of a large Danish family supports presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.  Familial Cancer (in press) 2015