Faivre L - Search Results

1

An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.

Mosca-Boidron AL, Faivre L, Aho S, Marle N, Truntzer C, Rousseau T, Ragon C, Payet M, Thauvin-Robinet C, Thevenon J, El Chehadeh S, Huet F, Sagot P, Mugneret F, Callier P. Mosca-Boidron AL, et al. Among authors: faivre l. PLoS One. 2013;8(4):e59956. doi: 10.1371/journal.pone.0059956. Epub 2013 Apr 2. PLoS One. 2013. PMID: 23565177 Free PMC article.

2

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

3

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

4

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

5

Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation.

Drouineaud V, Sagot P, Faivre L, Michel F, Jimenez C. Drouineaud V, et al. Among authors: faivre l. Fertil Steril. 2003 Jun;79 Suppl 3:1649-51. doi: 10.1016/s0015-0282(03)00341-8. Fertil Steril. 2003. PMID: 12801574 Free article.

6

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.

Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2004 Apr 30;126A(3):303-7. doi: 10.1002/ajmg.a.20596. Am J Med Genet A. 2004. PMID: 15054847 Review.

7

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Faivre L, et al. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. doi: 10.1002/ajmg.a.20597. Am J Med Genet A. 2004. PMID: 15054848

8

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.

Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, Mugneret F. Faivre L, et al. Prenat Diagn. 2004 May;24(5):393-5. doi: 10.1002/pd.891. Prenat Diagn. 2004. PMID: 15164417

9

Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition.

Thauvin-Robinet C, Faivre L, Barbier ML, Chevret L, Bourgeois J, Netter JC, Grimaldi M, Geneviève D, Ogier de Baulny H, Huet F, Saudubray JM, Gouyon JB. Thauvin-Robinet C, et al. Among authors: faivre l. J Inherit Metab Dis. 2004;27(5):700-4. doi: 10.1023/b:boli.0000043017.90837.93. J Inherit Metab Dis. 2004. PMID: 15669689 No abstract available.

10

Prenatal diagnosis of Juberg-Hayward syndrome.

Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Among authors: faivre l. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337

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