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Items: 11

1.

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL.

J Med Genet. 1998 Mar;35(3):241-3.

2.

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T, Yoshioka H, Sado Y, Sato H, Sawai T, Sasaki F, Matsuoka M, Fukuda S, Ninomiya Y.

Am J Hum Genet. 1998 Feb;62(2):253-61.

5.

Genetic linkage heterogeneity in myotubular myopathy.

Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier JJ, Pelissier JF, Feingold N, Junien C, Mandel JL, et al.

Am J Hum Genet. 1995 Jul;57(1):120-6.

6.

Molecular analysis of hemophilia A mutations in the Finnish population.

Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J.

Am J Hum Genet. 1990 Jan;46(1):53-62.

7.

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Taylor SA, Deugau KV, Lillicrap DP.

Proc Natl Acad Sci U S A. 1991 Jan 1;88(1):39-42.

8.

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Arveiler B, de Saint-Basile G, Fischer A, Griscelli C, Mandel JL.

Am J Hum Genet. 1990 May;46(5):906-11.

9.

Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

Strautnieks S, Rutland P, Malcolm S.

J Med Genet. 1991 Dec;28(12):871-4.

10.

Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

Prior L, Bordet S, Trifiro MA, Mhatre A, Kaufman M, Pinsky L, Wrogeman K, Belsham DD, Pereira F, Greenberg C, et al.

Am J Hum Genet. 1992 Jul;51(1):143-55.

11.

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