Dubourg C - Search Results

1

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. Among authors: dubourg c. 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

2

Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene.

Dubourg C, Toutain B, Hélias C, Henry C, Lessard M, Le Gall JY, Le Treut A, Guenet L. Dubourg C, et al. Cancer Genet Cytogenet. 2002 Apr 1;134(1):33-7. doi: 10.1016/s0165-4608(01)00605-7. Cancer Genet Cytogenet. 2002. PMID: 11996793

3

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.

Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V. Aguilella C, et al. Among authors: dubourg c. Hum Genet. 2003 Feb;112(2):131-4. doi: 10.1007/s00439-002-0862-8. Epub 2002 Nov 21. Hum Genet. 2003. PMID: 12522553

4

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. Hum Mutat. 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. Hum Mutat. 2004. PMID: 15221788

5

Phenotypic and molecular variability of the holoprosencephalic spectrum.

Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S. Lazaro L, et al. Among authors: dubourg c. Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110. Am J Med Genet A. 2004. PMID: 15266610

6

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M. Traiffort E, et al. Among authors: dubourg c. J Biol Chem. 2004 Oct 8;279(41):42889-97. doi: 10.1074/jbc.M405161200. Epub 2004 Jul 28. J Biol Chem. 2004. PMID: 15292211 Free article.

7

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Levêque J, Pellerin I, Guerrier D. Bendavid C, et al. Among authors: dubourg c. Eur J Med Genet. 2007 Jan-Feb;50(1):66-72. doi: 10.1016/j.ejmg.2006.09.003. Epub 2006 Oct 1. Eur J Med Genet. 2007. PMID: 17081814

8

Holoprosencephaly.

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Dubourg C, et al. 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.

9

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. Among authors: dubourg c. Hum Mutat. 2007 Dec;28(12):1189-97. doi: 10.1002/humu.20594. Hum Mutat. 2007. PMID: 17683084

10

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M. Portnoï MF, et al. Among authors: dubourg c. Clin Dysmorphol. 2007 Oct;16(4):247-52. doi: 10.1097/MCD.0b013e328235a572. Clin Dysmorphol. 2007. PMID: 17786116

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