Detalhe da pesquisa
1.
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
J Med Genet
; 61(5): 469-476, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38458756
2.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31978331
3.
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Electrophoresis
; 39(24): 3123-3132, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29869806
4.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28954837
5.
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
6.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Genet Med
; 17(8): 651-9, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25394172
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.
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
Clin Chem
; 64(4): 752-754, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29592908
9.
Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children.
J Pediatr
; 162(3): 593-9, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23022111
10.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat
; 33(6): 949-59, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22396310
11.
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
12.
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.
Am J Respir Crit Care Med
; 181(8): 851-61, 2010 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20056902
13.
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
Eur J Med Genet
; 64(4): 104166, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33571694
14.
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Hum Mutat
; 31(1): E1021-42, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19802897
15.
Type I hyperprolinemia: genotype/phenotype correlations.
Hum Mutat
; 31(8): 961-5, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20524212
16.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Transl Psychiatry
; 10(1): 77, 2020 02 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32094338
17.
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Am J Med Genet A
; 149A(6): 1108-15, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19449422
18.
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Hum Mutat
; 28(11): 1098-107, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17565729
19.
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Eur J Hum Genet
; 15(11): 1145-55, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17637808
20.
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Eur J Hum Genet
; 14(9): 1009-17, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16773131