Callier P - Search Results

1

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: callier p. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487

2

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: callier p. 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.

3

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. Among authors: callier p. Prenat Diagn. 2004 May;24(5):393-5. doi: 10.1002/pd.891. Prenat Diagn. 2004. PMID: 15164417

4

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: callier p. 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.

5

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. 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.

6

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: callier p. 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

7

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. 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

8

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: callier p. 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

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: callier p. 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

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: callier p. Prenat Diagn. 2007 Jun;27(6):555-9. doi: 10.1002/pd.1724. Prenat Diagn. 2007. PMID: 17385797

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