Ronce N - Search Results

1

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S. Laumonnier F, et al. Among authors: ronce n. Am J Hum Genet. 2002 Dec;71(6):1450-5. doi: 10.1086/344661. Epub 2002 Nov 8. Am J Hum Genet. 2002. PMID: 12428212 Free PMC article.

2

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.

Gendrot C, Ronce N, Toutain A, Moizard MP, Müh JP, Raynaud M, Dourlens J, Briault S, Moraine C. Gendrot C, et al. Among authors: ronce n. Clin Genet. 1994 Mar;45(3):145-53. doi: 10.1111/j.1399-0004.1994.tb04012.x. Clin Genet. 1994. PMID: 8026106

3

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

Houdayer CI, Toutain A, Ronce N, Lefort G, Sarda P, Taib J, Briault S, Lambert JC, Moraine CI. Houdayer CI, et al. Among authors: ronce n. Ann Genet. 1993;36(4):194-9. Ann Genet. 1993. PMID: 8166423

4

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Raynaud M, et al. Among authors: ronce n. Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826458

5

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

Toutain A, Ronce N, Dessay B, Robb L, Francannet C, Le Merrer M, Briard ML, Kaplan J, Moraine C. Toutain A, et al. Among authors: ronce n. Hum Genet. 1997 Feb;99(2):256-61. doi: 10.1007/s004390050349. Hum Genet. 1997. PMID: 9048931

6

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C. Ronce N, et al. Am J Hum Genet. 1997 Jul;61(1):233-8. doi: 10.1016/S0002-9297(07)64297-9. Am J Hum Genet. 1997. PMID: 9246006 Free PMC article. No abstract available.

7

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: ronce n. Am J Med Genet. 1997 Nov 28;73(1):87-90. Am J Med Genet. 1997. PMID: 9375929

8

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C. Raynaud M, et al. Among authors: ronce n. Am J Med Genet. 1998 Mar 19;76(3):255-61. Am J Med Genet. 1998. PMID: 9508246

9

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: ronce n. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072

10

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Carrié A, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: ronce n. Pathol Biol (Paris). 1998 Nov;46(9):678. Pathol Biol (Paris). 1998. PMID: 9885813 English, French. No abstract available.

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