Fauré S - Search Results

1

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Hillaire D, et al. Among authors: faure s. Hum Mol Genet. 1994 Sep;3(9):1657-61. doi: 10.1093/hmg/3.9.1657. Hum Mol Genet. 1994. PMID: 7833925

2

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D. Fardeau M, et al. Among authors: faure s. Rev Neurol (Paris). 1996 Jan;152(1):11-9. Rev Neurol (Paris). 1996. PMID: 8729391 French.

3

Readjusting the localization of long QT syndrome gene on chromosome 11p15.

Dausse E, Denjoy I, Kahlem P, Bennaceur M, Fauré S, Weissenbach J, Coumel P, Schwartz K, Guicheney P. Dausse E, et al. Among authors: faure s. C R Acad Sci III. 1995 Aug;318(8):879-85. C R Acad Sci III. 1995. PMID: 7583778

4

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. Vincent P, et al. Among authors: faure s. Hum Mol Genet. 1995 May;4(5):945-9. doi: 10.1093/hmg/4.5.945. Hum Mol Genet. 1995. PMID: 7633456

5

A mutation in HERG associated with notched T waves in long QT syndrome.

Dausse E, Berthet M, Denjoy I, André-Fouet X, Cruaud C, Bennaceur M, Fauré S, Coumel P, Schwartz K, Guicheney P. Dausse E, et al. Among authors: faure s. J Mol Cell Cardiol. 1996 Aug;28(8):1609-15. doi: 10.1006/jmcc.1996.0151. J Mol Cell Cardiol. 1996. PMID: 8877771

6

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.

Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Fauré S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. Neyroud N, et al. Among authors: faure s. Nat Genet. 1997 Feb;15(2):186-9. doi: 10.1038/ng0297-186. Nat Genet. 1997. PMID: 9020846

7

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N. Neufeld EJ, et al. Among authors: faure s. Am J Hum Genet. 1997 Dec;61(6):1335-41. doi: 10.1086/301642. Am J Hum Genet. 1997. PMID: 9399900 Free PMC article.

8

A locus for Fanconi anemia on 16q determined by homozygosity mapping.

Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, Weissenbach J, Altay C, Lander ES, Auerbach AD, Botstein D. Gschwend M, et al. Among authors: faure s. Am J Hum Genet. 1996 Aug;59(2):377-84. Am J Hum Genet. 1996. PMID: 8755924 Free PMC article.

9

Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.

Gelb BD, Spencer E, Obad S, Edelson GJ, Faure S, Weissenbach J, Desnick RJ. Gelb BD, et al. Among authors: faure s. Hum Genet. 1996 Aug;98(2):141-4. doi: 10.1007/s004390050177. Hum Genet. 1996. PMID: 8698329

10

Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

Fauré S, Bordelais I, Marquette C, Rittey C, Campos-Castello J, Goutières F, Ponsot G, Weissenbach J, Lebon P. Fauré S, et al. Clin Genet. 1999 Aug;56(2):149-53. doi: 10.1034/j.1399-0004.1999.560210.x. Clin Genet. 1999. PMID: 10517253

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