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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. Among authors: gicquel i. 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.
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S. Mercier S, et al. Among authors: gicquel i. J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940735 Free PMC article.
Holoprosencephaly: An update on cytogenetic abnormalities.
Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V. Bendavid C, et al. Among authors: gicquel i. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):86-92. doi: 10.1002/ajmg.c.30250. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104602 Free article. Review.
NOTCH, a new signaling pathway implicated in holoprosencephaly.
Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Kini U, Thauvin-Robinet C, Bohan TP, Odent S, Dubourg C, David V. Dupé V, et al. Among authors: gicquel i. Hum Mol Genet. 2011 Mar 15;20(6):1122-31. doi: 10.1093/hmg/ddq556. Epub 2010 Dec 31. Hum Mol Genet. 2011. PMID: 21196490 Free PMC article.
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. Among authors: gicquel i. Hum Mutat. 2009 Aug;30(8):1175-82. doi: 10.1002/humu.21016. Hum Mutat. 2009. PMID: 19431187 Free article.
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: gicquel i. 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
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.
Démurger F, Pasquier L, Dubourg C, Dupé V, Gicquel I, Evain C, Ratié L, Jaillard S, Beri M, Leheup B, Lespinasse J, Martin-Coignard D, Mercier S, Quelin C, Loget P, Marcorelles P, Laquerrière A, Bendavid C, Odent S, David V. Démurger F, et al. Among authors: gicquel i. Mol Syndromol. 2013 Sep;4(6):267-72. doi: 10.1159/000353878. Epub 2013 Aug 1. Mol Syndromol. 2013. PMID: 24167461 Free PMC article.
26 results