Faivre L - Search Results

1

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE. Lambacher NJ, et al. Among authors: faivre l. Nat Cell Biol. 2016 Jan;18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23. Nat Cell Biol. 2016. PMID: 26595381 Free PMC article.

2

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

3

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

4

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.

5

Should chromosome breakage studies be performed in patients with VACTERL association?

Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Faivre L, et al. Am J Med Genet A. 2005 Aug 15;137(1):55-8. doi: 10.1002/ajmg.a.30853. Am J Med Genet A. 2005. PMID: 16015582 Review.

6

Another observation with VATER association and a complex IV respiratory chain deficiency.

Thauvin-Robinet C, Faivre L, Huet F, Journeau P, Glorion C, Rustin P, Rötig A, Munnich A, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: faivre l. Eur J Med Genet. 2006 Jan-Feb;49(1):71-7. doi: 10.1016/j.ejmg.2005.04.001. Eur J Med Genet. 2006. PMID: 16473312

7

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L. Colombani M, et al. Among authors: faivre l. Eur J Med Genet. 2006 Nov-Dec;49(6):466-71. doi: 10.1016/j.ejmg.2006.05.001. Epub 2006 Jun 12. Eur J Med Genet. 2006. PMID: 16807158

8

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L. Colombani M, et al. Among authors: faivre l. Prenat Diagn. 2006 Dec;26(12):1151-5. doi: 10.1002/pd.1576. Prenat Diagn. 2006. PMID: 17009344

9

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Mosca AL, Laurent N, Guibaud L, Callier P, Thauvin-Robinet C, Mugneret F, Huet F, Grimaldi M, Gouyon JB, Sandre D, Faivre L. Mosca AL, et al. Among authors: faivre l. Eur J Med Genet. 2007 Jan-Feb;50(1):48-53. doi: 10.1016/j.ejmg.2006.08.002. Epub 2006 Sep 12. Eur J Med Genet. 2007. PMID: 17067864

10

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: faivre l. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.

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