Pasquier L - Search Results

1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L. El Chehadeh S, et al. Among authors: pasquier l. Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26420639

2

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S. Pasquier L, et al. Eur J Hum Genet. 2000 Oct;8(10):797-800. doi: 10.1038/sj.ejhg.5200540. Eur J Hum Genet. 2000. PMID: 11039582

3

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Faivre L, et al. Among authors: pasquier l. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

4

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: pasquier l. Hum Genet. 2003 Feb;112(2):131-4. doi: 10.1007/s00439-002-0862-8. Epub 2002 Nov 21. Hum Genet. 2003. PMID: 12522553

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

6

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: pasquier l. 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

7

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, Encha-Razavi F. Pasquier L, et al. J Med Genet. 2005 Jan;42(1):e4. doi: 10.1136/jmg.2004.023416. J Med Genet. 2005. PMID: 15635066 Free PMC article. No abstract available.

8

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, Cormier-Daire V. Pasquier L, et al. Arch Dis Child. 2006 Feb;91(2):178-82. doi: 10.1136/adc.2005.080473. Arch Dis Child. 2006. PMID: 16428367 Free PMC article.

9

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Philippe C, et al. Among authors: pasquier l. Eur J Med Genet. 2006 Jan-Feb;49(1):9-18. doi: 10.1016/j.ejmg.2005.04.003. Eur J Med Genet. 2006. PMID: 16473305

10

The incidence of Rett syndrome in France.

Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. Bienvenu T, et al. Among authors: pasquier l. Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013. Pediatr Neurol. 2006. PMID: 16647997

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