Bendavid C - Search Results

1

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: bendavid c. Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090. Hum Mutat. 2009. PMID: 19603532 Free PMC article.

2

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: bendavid c. Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982. Hum Mutat. 2009. PMID: 19177455 Free PMC article.

3

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M. Roessler E, et al. Among authors: bendavid c. Hum Genet. 2009 May;125(4):393-400. doi: 10.1007/s00439-009-0628-7. Epub 2009 Jan 31. Hum Genet. 2009. PMID: 19184110 Free PMC article.

4

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.

Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M. Bendavid C, et al. J Med Genet. 2006 Jun;43(6):496-500. doi: 10.1136/jmg.2005.037176. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199538 Free PMC article.

5

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V. Dubourg C, et al. Among authors: bendavid c. Hum Mutat. 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. Hum Mutat. 2004. PMID: 15221788

6

Holoprosencephaly.

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Dubourg C, et al. Among authors: bendavid c. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Orphanet J Rare Dis. 2007. PMID: 17274816 Free PMC article. Review.

7

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.

Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V. Bendavid C, et al. Hum Mutat. 2007 Dec;28(12):1189-97. doi: 10.1002/humu.20594. Hum Mutat. 2007. PMID: 17683084

8

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.

Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V. Bendavid C, et al. Hum Mutat. 2009 Aug;30(8):1175-82. doi: 10.1002/humu.21016. Hum Mutat. 2009. PMID: 19431187 Free article.

9

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA. Bendavid C, et al. Hum Genet. 2004 Nov;115(6):510-4. doi: 10.1007/s00439-004-1170-2. Epub 2004 Sep 9. Hum Genet. 2004. PMID: 15365816

10

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V. Bendavid C, et al. Hum Genet. 2006 Mar;119(1-2):1-8. doi: 10.1007/s00439-005-0097-6. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323008

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