Delague V - Search Results

1

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.

De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N. De Sandre-Giovannoli A, et al. Among authors: delague v. J Med Genet. 2005 Mar;42(3):260-5. doi: 10.1136/jmg.2004.024364. J Med Genet. 2005. PMID: 15744041 Free PMC article. No abstract available.

2

Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.

Mégarbané A, Delague V, Salem N, Loiselet J. Mégarbané A, et al. Among authors: delague v. Am J Med Genet. 1999 Nov 5;87(1):88-90. Am J Med Genet. 1999. PMID: 10528257 No abstract available.

3

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: delague v. Hum Mutat. 2000 Apr;15(4):384. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U. Hum Mutat. 2000. PMID: 10737992

4

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Mégarbané A, et al. Among authors: delague v. Am J Med Genet. 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10797435 Review.

5

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.

6

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Delague V, et al. Horm Res. 2000;53(2):77-82. doi: 10.1159/000023518. Horm Res. 2000. PMID: 10971093

7

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family.

Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Mégarbané A, et al. Among authors: delague v. Clin Genet. 2000 Dec;58(6):473-8. doi: 10.1034/j.1399-0004.2000.580608.x. Clin Genet. 2000. PMID: 11149617

8

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: delague v. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

9

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Mégarbane A, Naman R. Mansour I, et al. Among authors: delague v. Eur J Hum Genet. 2001 Jan;9(1):51-5. doi: 10.1038/sj.ejhg.5200574. Eur J Hum Genet. 2001. PMID: 11175300

10

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

Mégarbané A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A. Mégarbané A, et al. Among authors: delague v. Am J Med Genet. 2001 Jun 15;101(2):135-41. doi: 10.1002/1096-8628(20010615)101:2<135::aid-ajmg1134>3.0.co;2-j. Am J Med Genet. 2001. PMID: 11391656

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

97 results

Search Page

Filters