Tranebjaerg L - Search Results

1

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

Heuertz S, Nelen M, Wilkie AO, Le Merrer M, Delrieu O, Larget-Piet L, Tranebjaerg L, Bick D, Hamel B, Van Oost BA, et al. Heuertz S, et al. Among authors: tranebjaerg l. Genomics. 1993 Oct;18(1):100-4. doi: 10.1006/geno.1993.1431. Genomics. 1993. PMID: 7903956

2

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: tranebjaerg l. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.

3

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M. Tranebjaerg L, et al. Eur J Hum Genet. 2000 Jun;8(6):464-7. doi: 10.1038/sj.ejhg.5200483. Eur J Hum Genet. 2000. PMID: 10878669

4

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M, Puissant H, Piet LL, Mandel JL. Arveiler B, et al. Among authors: tranebjaerg l. Am J Med Genet. 1988 May-Jun;30(1-2):473-83. doi: 10.1002/ajmg.1320300150. Am J Med Genet. 1988. PMID: 3177465

5

9th international workshop on fragile X syndrome and X-linked mental retardation.

Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Among authors: tranebjaerg l. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.

6

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE. McCormick MK, et al. Among authors: tranebjaerg l. Genomics. 1989 Aug;5(2):325-31. doi: 10.1016/0888-7543(89)90065-7. Genomics. 1989. PMID: 2529205 Free article.

7

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Paloneva J, et al. Among authors: tranebjaerg l. Am J Hum Genet. 2002 Sep;71(3):656-62. doi: 10.1086/342259. Epub 2002 Jun 21. Am J Hum Genet. 2002. PMID: 12080485 Free PMC article.

8

394delTT: a Nordic cystic fibrosis mutation.

Schwartz M, Anvret M, Claustres M, Eiken HG, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L. Schwartz M, et al. Among authors: tranebjaerg l. Hum Genet. 1994 Feb;93(2):157-61. doi: 10.1007/BF00210602. Hum Genet. 1994. PMID: 7509310

9

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K. Tranebjaerg L, et al. Ophthalmic Genet. 2001 Dec;22(4):207-23. doi: 10.1076/opge.22.4.207.2220. Ophthalmic Genet. 2001. PMID: 11803487

10

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M. Sun C, et al. Among authors: tranebjaerg l. Eur J Hum Genet. 2001 Dec;9(12):903-9. doi: 10.1038/sj.ejhg.5200736. Eur J Hum Genet. 2001. PMID: 11840191

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