Pembrey M - Search Results

1

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. Dessay S, et al. Among authors: pembrey m. Am J Med Genet. 2002 Sep 15;112(1):6-11. doi: 10.1002/ajmg.10546. Am J Med Genet. 2002. PMID: 12239712 Review.

2

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.

Raynaud M, Dessay S, Ronce N, Opitz J, Pembrey M, Romano C, Moraine C, Briault S. Raynaud M, et al. Among authors: pembrey m. Eur J Hum Genet. 2003 Apr;11(4):352-6. doi: 10.1038/sj.ejhg.5200959. Eur J Hum Genet. 2003. PMID: 12700610

3

A gene for FG syndrome maps in the Xq12-q21.31 region.

Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C. Briault S, et al. Among authors: pembrey m. Am J Med Genet. 1997 Nov 28;73(1):87-90. Am J Med Genet. 1997. PMID: 9375929

4

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, Moraine C. Briault S, et al. Among authors: pembrey m. Am J Med Genet. 2000 Nov 13;95(2):178-81. doi: 10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11078572

5

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

Hanauer A, Alembik Y, Gilgenkrantz S, Mujica P, Nivelon-Chevallier A, Pembrey ME, Young ID, Mandel JL. Hanauer A, et al. Among authors: pembrey me. Am J Med Genet. 1988 May-Jun;30(1-2):523-30. doi: 10.1002/ajmg.1320300154. Am J Med Genet. 1988. PMID: 3177469

6

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Knight SJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, et al. Knight SJ, et al. Among authors: pembrey me. Cell. 1993 Jul 16;74(1):127-34. doi: 10.1016/0092-8674(93)90300-f. Cell. 1993. PMID: 8334699

7

A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

Reardon W, Middleton-Price HR, Sandkuijl L, Phelps P, Bellman S, Luxon L, Pembrey ME, Malcolm S. Reardon W, et al. Among authors: pembrey me. Genomics. 1991 Dec;11(4):885-94. doi: 10.1016/0888-7543(91)90011-3. Genomics. 1991. PMID: 1783396

8

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Bitner-Glindzicz M, et al. Among authors: pembrey me. J Med Genet. 1994 Dec;31(12):916-21. doi: 10.1136/jmg.31.12.916. J Med Genet. 1994. PMID: 7891371 Free PMC article.

9

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ. Ni L, et al. Among authors: pembrey me. Am J Med Genet. 1994 Jun 1;51(2):176-84. doi: 10.1002/ajmg.1320510222. Am J Med Genet. 1994. PMID: 8092199

10

The major cystic fibrosis mutation in a British population.

McMahon CJ, Genet SA, Middleton-Price HR, Rutland P, Pembrey ME, Malcolm S. McMahon CJ, et al. Among authors: pembrey me. Hum Genet. 1990 Dec;86(2):236-7. doi: 10.1007/BF00197712. Hum Genet. 1990. PMID: 2265837

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