Eiberg H - Search Results

1

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Farrar GJ, McWilliam P, Bradley DG, Kenna P, Lawler M, Sharp EM, Humphries MM, Eiberg H, Conneally PM, Trofatter JA, et al. Farrar GJ, et al. Among authors: eiberg h. Genomics. 1990 Sep;8(1):35-40. doi: 10.1016/0888-7543(90)90223-h. Genomics. 1990. PMID: 2081598

2

Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6.

Eiberg H, Bixler D, Nielsen LS, Conneally PM, Mohr J. Eiberg H, et al. Clin Genet. 1987 Aug;32(2):129-32. doi: 10.1111/j.1399-0004.1987.tb03340.x. Clin Genet. 1987. PMID: 2888553

3

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

Gardiner M, Sandford A, Deadman M, Poulton J, Cookson W, Reeders S, Jokiaho I, Peltonen L, Eiberg H, Julier C. Gardiner M, et al. Among authors: eiberg h. Genomics. 1990 Oct;8(2):387-90. doi: 10.1016/0888-7543(90)90297-8. Genomics. 1990. PMID: 2249854

4

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Eiberg H, Kjer B, Kjer P, Rosenberg T. Eiberg H, et al. Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977. Hum Mol Genet. 1994. PMID: 7951248

5

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sørensen SA. Nielsen JE, et al. Among authors: eiberg h. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257

6

Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q.

Eiberg H, Møller HU, Berendt I, Mohr J. Eiberg H, et al. Eur J Hum Genet. 1994;2(2):132-8. doi: 10.1159/000472353. Eur J Hum Genet. 1994. PMID: 8044658

7

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig.

Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T. Jonasdottir A, et al. Among authors: eiberg h. Hum Genet. 1997 Jan;99(1):115-20. doi: 10.1007/s004390050323. Hum Genet. 1997. PMID: 9003507

8

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.

Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, Hasholt L, Werdelin L, Sørensen SA. Nielsen JE, et al. Among authors: eiberg h. J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):61-6. doi: 10.1136/jnnp.64.1.61. J Neurol Neurosurg Psychiatry. 1998. PMID: 9436729 Free PMC article.

9

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin.

Eiberg H, Marner E, Rosenberg T, Mohr J. Eiberg H, et al. Clin Genet. 1988 Oct;34(4):272-5. doi: 10.1111/j.1399-0004.1988.tb02875.x. Clin Genet. 1988. PMID: 3233780

10

Major locus for red hair color linked to MNS blood groups on chromosome 4.

Eiberg H, Mohr J. Eiberg H, et al. Clin Genet. 1987 Aug;32(2):125-8. doi: 10.1111/j.1399-0004.1987.tb03339.x. Clin Genet. 1987. PMID: 3477350

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