Faivre L - Search Results

1

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

Di Rocco F, Licci ML, Garde A, Mottolese C, Thauvin-Robinet C, Chevarin M, Guibaud L, Vabres P, Kuentz P, Faivre L. Di Rocco F, et al. Among authors: faivre l. Eur J Med Genet. 2023 Feb;66(2):104678. doi: 10.1016/j.ejmg.2022.104678. Epub 2022 Dec 9. Eur J Med Genet. 2023. PMID: 36503153

2

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M. Faivre L, et al. Prenat Diagn. 1998 Oct;18(10):1055-60. doi: 10.1002/(sici)1097-0223(1998100)18:10<1055::aid-pd405>3.0.co;2-i. Prenat Diagn. 1998. PMID: 9826897 Review.

3

[Prion diseases in pediatrics].

Sol-Caubel I, Castela F, Brousse V, Faivre L, Guigonis V, Thiriez G, Billette de Villemeur T. Sol-Caubel I, et al. Among authors: faivre l. Arch Pediatr. 1999 Mar;6(3):293-301. doi: 10.1016/S0929-693X(99)80269-3. Arch Pediatr. 1999. PMID: 10191898 Review. French.

4

Risk factors for heart defects in Down syndrome.

Faivre L, Vekemans M. Faivre L, et al. Teratology. 1999 Mar;59(3):132. doi: 10.1002/(SICI)1096-9926(199903)59:3<132::AID-TERA3>3.0.CO;2-X. Teratology. 1999. PMID: 10194802 No abstract available.

5

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.

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

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.

10

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

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