Beldjord C - Search Results

1

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, et al. Attié T, et al. Among authors: beldjord c. Hum Mol Genet. 1995 Aug;4(8):1381-6. doi: 10.1093/hmg/4.8.1381. Hum Mol Genet. 1995. PMID: 7581377

2

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: beldjord c. Hum Mutat. 2001 Sep;18(3):251-2. doi: 10.1002/humu.1182. Hum Mutat. 2001. PMID: 11524737

3

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. Among authors: beldjord c. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072

4

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. Bienvenu T, et al. Among authors: beldjord c. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719

5

The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.

Beldjord C, Desclaux-Arramond F, Raffin-Sanson M, Corvol JC, De Keyzer Y, Luton JP, Plouin PF, Bertagna X. Beldjord C, et al. J Clin Endocrinol Metab. 1995 Jul;80(7):2063-8. doi: 10.1210/jcem.80.7.7608256. J Clin Endocrinol Metab. 1995. PMID: 7608256

6

Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas.

Rodien P, Jeunemaitre X, Dumont C, Beldjord C, Plouin PF. Rodien P, et al. Among authors: beldjord c. Horm Res. 1997;47(4-6):263-8. doi: 10.1159/000185474. Horm Res. 1997. PMID: 9167962

7

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C. des Portes V, et al. Among authors: beldjord c. Hum Mol Genet. 1998 Jul;7(7):1063-70. doi: 10.1093/hmg/7.7.1063. Hum Mol Genet. 1998. PMID: 9618162

8

Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.

Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: beldjord c. Hum Genet. 1995 Jun;95(6):698-702. doi: 10.1007/BF00209490. Hum Genet. 1995. PMID: 7540587

9

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Bienvenu T, des Portes V, Saint Martin A, McDonell N, Billuart P, Carrié A, Vinet MC, Couvert P, Toniolo D, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Kahn A, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: beldjord c. Hum Mol Genet. 1998 Aug;7(8):1311-5. doi: 10.1093/hmg/7.8.1311. Hum Mol Genet. 1998. PMID: 9668174

10

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: beldjord c. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

147 results

Search Page

Filters