Detalhe da pesquisa
1.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30508070
2.
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Genet Med
; 20(7): 745-753, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29261186
3.
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Nat Genet
; 40(9): 1119-23, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18677313
4.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn
; 36(6): 523-9, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27018091
5.
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Am J Med Genet A
; 167A(5): 1008-17, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25728055
6.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
J Med Genet
; 51(2): 132-6, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24026985
7.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25167861
8.
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.
Fetal Diagn Ther
; 37(1): 6-17, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25402326
9.
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Am J Hum Genet
; 84(5): 706-11, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19442771
10.
Genetic compensation in a human genomic disorder.
N Engl J Med
; 360(12): 1211-6, 2009 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-19297573
11.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Am J Med Genet A
; 158A(7): 1633-40, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22678713
12.
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
J Med Genet
; 48(6): 417-21, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21415077
13.
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Proc Natl Acad Sci U S A
; 106(6): 1820-5, 2009 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-19190184
14.
Three new BLM gene mutations associated with Bloom syndrome.
Genet Test
; 12(2): 257-61, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18471088
15.
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Eur J Hum Genet
; 26(7): 996-1006, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29695756
16.
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.
J Clin Invest
; 114(10): 1512-7, 2004 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-15546002
17.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Eur J Hum Genet
; 24(6): 844-51, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26508576
18.
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
Eur J Hum Genet
; 13(9): 1013-8, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15915162
19.
MSX2 Gene Duplication in a Patient with Eye Development Defects.
Ophthalmic Genet
; 36(4): 353-8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-24666290
20.
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Eur J Med Genet
; 58(9): 443-54, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26193382