Pasquier L - Search Results

1

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.

Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A. Pasquier L, et al. Acta Neuropathol. 2009 Feb;117(2):185-200. doi: 10.1007/s00401-008-0469-9. Epub 2008 Dec 5. Acta Neuropathol. 2009. PMID: 19057916

2

Gastric carcinoma in Sotos syndrome (cerebral gigantism).

Le Marec B, Pasquier L, Dugast C, Gosselin M, Odent S. Le Marec B, et al. Among authors: pasquier l. Ann Genet. 1999;42(2):113-6. Ann Genet. 1999. PMID: 10434127 Review.

3

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

4

Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital.

Bétrémieux P, Lionnais S, Beuchée A, Pladys P, Le Bouar G, Pasquier L, Loeuillet-Olivo L, Azzis O, Milon J, Wodey E, Frémond B, Odent S, Poulain P. Bétrémieux P, et al. Among authors: pasquier l. Prenat Diagn. 2002 Nov;22(11):988-94. doi: 10.1002/pd.454. Prenat Diagn. 2002. PMID: 12424762

5

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

6

[Genetic study of holoprosencephaly].

Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V. Dubourg C, et al. Among authors: pasquier l. Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):679-87. Ann Biol Clin (Paris). 2003. PMID: 14711609 Free article. French.

7

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

8

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

9

Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.

Bétrémieux P, Gaillot T, de la Pintière A, Beuchée A, Pasquier L, Habonimana E, Le Bouar G, Branger B, Milon J, Frémond B, Wodey E, Odent S, Poulain P, Pladys P. Bétrémieux P, et al. Among authors: pasquier l. Prenat Diagn. 2004 Jul;24(7):487-93. doi: 10.1002/pd.909. Prenat Diagn. 2004. PMID: 15300735

10

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.

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