Detalhe da pesquisa
1.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32732226
2.
Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.
Am J Med Genet A
; 179(11): 2207-2213, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31471951
3.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24439109
4.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24319099
5.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25790162
6.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23820807
7.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22323514
8.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet
; 49(4): 227-33, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22499340
9.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23024289
10.
Epithelial phenotypes in the developing human prostate.
J Histochem Cytochem
; 55(9): 885-90, 2007 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-17478449
11.
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Prenat Diagn
; 29(11): 1085-8, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19777540
12.
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Epigenetics
; 9(7): 1007-17, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24782114
13.
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
Hum Gene Ther
; 24(7): 702-13, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23805838
14.
Decreased full breastfeeding, altered practices, perceptions, and infant weight change of prepregnant obese women: a need for extra support.
Pediatrics
; 121(5): e1319-24, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18450874