Cruaud C - Search Results

1

Identification and characterization of a spinal muscular atrophy-determining gene.

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Lefebvre S, et al. Among authors: cruaud c. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3. Cell. 1995. PMID: 7813012 Free article.

2

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K, et al. Helbling-Leclerc A, et al. Among authors: cruaud c. Nat Genet. 1995 Oct;11(2):216-8. doi: 10.1038/ng1095-216. Nat Genet. 1995. PMID: 7550355

3

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. Bussaglia E, et al. Among authors: cruaud c. Nat Genet. 1995 Nov;11(3):335-7. doi: 10.1038/ng1195-335. Nat Genet. 1995. PMID: 7581461

4

Structure and organization of the human survival motor neurone (SMN) gene.

Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Bürglen L, et al. Among authors: cruaud c. Genomics. 1996 Mar 15;32(3):479-82. doi: 10.1006/geno.1996.0147. Genomics. 1996. PMID: 8838816

5

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

Viollet L, Bertrandy S, Bueno Brunialti AL, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guénet JL, Munnich A, Melki J. Viollet L, et al. Among authors: cruaud c. Genomics. 1997 Feb 15;40(1):185-8. doi: 10.1006/geno.1996.4551. Genomics. 1997. PMID: 9070939

6

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Bonne G, et al. Among authors: cruaud c. Nat Genet. 1995 Dec;11(4):438-40. doi: 10.1038/ng1295-438. Nat Genet. 1995. PMID: 7493026

7

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.

Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: cruaud c. Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0. Nature. 1996. PMID: 8878478

8

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. Among authors: cruaud c. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.

9

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.

Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M. Guicheney P, et al. Among authors: cruaud c. Neuromuscul Disord. 1997 May;7(3):180-6. doi: 10.1016/s0960-8966(97)00460-4. Neuromuscul Disord. 1997. PMID: 9185182

10

Localization and expression analysis of a novel conserved brain expressed transcript, Brx/BRX, lying within the Xic/XIC candidate region.

Simmler MC, Heard E, Rougeulle C, Cruaud C, Weissenbach J, Avner P. Simmler MC, et al. Among authors: cruaud c. Mamm Genome. 1997 Oct;8(10):760-6. doi: 10.1007/s003359900561. Mamm Genome. 1997. PMID: 9321471

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