Tranebjaerg L - Search Results

1

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al. Tranebjaerg L, et al. J Med Genet. 1995 Apr;32(4):257-63. doi: 10.1136/jmg.32.4.257. J Med Genet. 1995. PMID: 7643352 Free PMC article.

2

XLMR genes: update 1996.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. Lubs HA, et al. Among authors: tranebjaerg l. Am J Med Genet. 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826465 Review.

3

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. Jin H, et al. Among authors: tranebjaerg l. Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. Nat Genet. 1996. PMID: 8841189

4

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Tranebjaerg L, et al. Am J Med Genet. 1996 Jul 12;64(1):1-14. doi: 10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8826442 No abstract available.

5

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.

Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L. Orstavik KH, et al. Among authors: tranebjaerg l. Am J Med Genet. 1996 Jul 12;64(1):31-4. doi: 10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8826445

6

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Plenge RM, Tranebjaerg L, Jensen PK, Schwartz C, Willard HF. Plenge RM, et al. Among authors: tranebjaerg l. Am J Hum Genet. 1999 Mar;64(3):759-67. doi: 10.1086/302286. Am J Hum Genet. 1999. PMID: 10053010 Free PMC article.

7

XLMR genes: update 1998.

Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G. Lubs H, et al. Among authors: tranebjaerg l. Am J Med Genet. 1999 Apr 2;83(4):237-47. Am J Med Genet. 1999. PMID: 10208155 Review.

8

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.

9

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.

Van Ghelue M, Eriksen HL, Ponjavic V, Fagerheim T, Andréasson S, Forsman-Semb K, Sandgren O, Holmgren G, Tranebjaerg L. Van Ghelue M, et al. Among authors: tranebjaerg l. Ophthalmic Genet. 2000 Dec;21(4):197-209. Ophthalmic Genet. 2000. PMID: 11135490

10

New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.

Tranebjaerg L, Lou H, Andresen J. Tranebjaerg L, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):498-504. doi: 10.1002/ajmg.1320430174. Am J Med Genet. 1992. PMID: 1605232

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