Faivre L - Search Results

1

GLI3 is rarely implicated in OFD syndromes with midline abnormalities.

Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, Huet F, Attié-Bitach T, Faivre L, Thauvin-Robinet C. Avila M, et al. Among authors: faivre l. Hum Mutat. 2011 Nov;32(11):1332-3. doi: 10.1002/humu.21570. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21796731 No abstract available.

2

Unique survival in chrondrodysplasia-hermaphrodism syndrome.

Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417. Am J Med Genet A. 2005. PMID: 15578577 No abstract available.

3

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F. Callier P, et al. Among authors: faivre l. Am J Med Genet A. 2005 Aug 30;137(2):204-7. doi: 10.1002/ajmg.a.30783. Am J Med Genet A. 2005. PMID: 16059936 Review.

4

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

5

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

6

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F. Callier P, et al. Among authors: faivre l. Am J Med Genet A. 2006 Sep 1;140A(17):1859-63. doi: 10.1002/ajmg.a.31395. Am J Med Genet A. 2006. PMID: 16892304

7

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

Thauvin-Robinet C, Laurent N, Rousseau T, Couvreur S, Cusin V, Callier P, Mugneret F, Durand C, Huet F, Sagot P, Faivre L. Thauvin-Robinet C, et al. Among authors: faivre l. Eur J Med Genet. 2007 Jan-Feb;50(1):85-91. doi: 10.1016/j.ejmg.2006.08.001. Epub 2006 Sep 9. Eur J Med Genet. 2007. PMID: 17056308

8

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

9

Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.

Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F. Thauvin-Robinet C, et al. Among authors: faivre l. Prenat Diagn. 2007 Jun;27(6):555-9. doi: 10.1002/pd.1724. Prenat Diagn. 2007. PMID: 17385797

10

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F. Callier P, et al. Among authors: faivre l. Eur J Med Genet. 2007 Nov-Dec;50(6):455-64. doi: 10.1016/j.ejmg.2007.06.004. Epub 2007 Jul 20. Eur J Med Genet. 2007. PMID: 17720646

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