Odent S - Search Results

1

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Quélin C, Loget P, Rozel C, D'Hervé D, Fradin M, Demurger F, Odent S, Pasquier L, Cavé H, Marcorelles P. Quélin C, et al. Among authors: odent s. Eur J Med Genet. 2017 Jul;60(7):395-398. doi: 10.1016/j.ejmg.2017.03.014. Epub 2017 Apr 25. Eur J Med Genet. 2017. PMID: 28455154

2

Features of DiGeorge syndrome and CHARGE association in five patients.

de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. Among authors: odent s. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.

3

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Odent S, et al. Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.

4

Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.

Odent S, Loget P, Le Marec B, Delezoïde AL, Maroteaux P. Odent S, et al. J Med Genet. 1999 Apr;36(4):330-2. J Med Genet. 1999. PMID: 10227404 Free PMC article.

5

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: odent s. Ann Genet. 1999;42(2):113-6. Ann Genet. 1999. PMID: 10434127 Review.

6

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. Among authors: odent s. Eur J Hum Genet. 2000 Oct;8(10):797-800. doi: 10.1038/sj.ejhg.5200540. Eur J Hum Genet. 2000. PMID: 11039582

7

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: odent s. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

8

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: odent s. Prenat Diagn. 2002 Nov;22(11):988-94. doi: 10.1002/pd.454. Prenat Diagn. 2002. PMID: 12424762

9

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

10

Perinatal-lethal Gaucher disease.

Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Among authors: odent s. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552

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