Faivre L - Search Results

1

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: faivre l. Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447. Am J Med Genet A. 2008. PMID: 18629884

2

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Faivre L, et al. Prenat Diagn. 1999 Jan;19(1):49-53. Prenat Diagn. 1999. PMID: 10073907 Review.

3

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Apr 10;91(4):273-6. Am J Med Genet. 2000. PMID: 10766982

4

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.

Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans M. Faivre L, et al. Ann Genet. 2000 Jan-Mar;43(1):35-8. doi: 10.1016/s0003-3995(00)00016-2. Ann Genet. 2000. PMID: 10818219

5

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Nov 27;95(3):233-6. doi: 10.1002/1096-8628(20001127)95:3<233::aid-ajmg9>3.0.co;2-3. Am J Med Genet. 2000. PMID: 11102929

6

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A. Thauvin-Robinet C, et al. Among authors: faivre l. Prenat Diagn. 2001 Jun;21(6):466-70. doi: 10.1002/pd.92. Prenat Diagn. 2001. PMID: 11438951

7

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome.

Rousseau T, Laurent N, Thauvin-Robinet C, Lionnais S, Durand C, Faivre L, Sagot P. Rousseau T, et al. Among authors: faivre l. Prenat Diagn. 2002 Aug;22(8):692-6. doi: 10.1002/pd.381. Prenat Diagn. 2002. PMID: 12210578

8

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.

Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A. Thauvin-Robinet C, et al. Among authors: faivre l. Prenat Diagn. 2002 Aug;22(8):710-4. doi: 10.1002/pd.385. Prenat Diagn. 2002. PMID: 12210581

9

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940

10

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. Faivre L, et al. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34. J Med Genet. 2003. PMID: 12525539 Free PMC article.

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