Detalhe da pesquisa
1.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37974505
2.
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
Int J Mol Sci
; 24(4)2023 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36835074
3.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30923172
4.
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Clin Genet
; 94(6): 575-580, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30221343
5.
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
J Med Genet
; 54(7): 502-510, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28270404
6.
[A specialised consultation for children and young adults with trisomy 21]. / Une consultation spécialisée pour l'enfant et le jeune adulte atteints de trisomie 21.
Soins Pediatr Pueric
; 39(302): 36-39, 2018.
Artigo
Francês
| MEDLINE | ID: mdl-29747770
7.
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Genet Med
; 19(6): 701-710, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27906199
8.
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
Hum Reprod
; 31(6): 1164-72, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27094479
9.
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
Am J Med Genet A
; 170A(2): 498-503, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26545049
10.
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
11.
Array-CGH in children with mild intellectual disability: a population-based study.
Eur J Pediatr
; 174(1): 75-83, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24985125
12.
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
Am J Med Genet A
; 164A(6): 1530-6, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24648389
13.
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
Am J Med Genet A
; 158A(10): 2564-70, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22903743
14.
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
Am J Med Genet A
; 164A(8): 2133-5, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24715298
15.
Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.
Clin Chem Lab Med
; 51(4): e41-4, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23072851
16.
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
Basic Clin Androl
; 28: 5, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29760927
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.
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Eur J Hum Genet
; 21(10): 1079-84, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23340515