Detalhe da pesquisa
1.
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Clin Genet
; 91(6): 908-912, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861764
2.
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Clin Genet
; 91(2): 333-338, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103078
3.
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Clin Genet
; 92(2): 188-198, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28155230
4.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clin Genet
; 91(1): 92-99, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102954
5.
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.
Br J Dermatol
; 176(1): 204-208, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095246
6.
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Clin Genet
; 89(5): e1-4, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26660953
7.
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Clin Genet
; 89(6): 700-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26757139
8.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
9.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Clin Genet
; 89(4): 501-506, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497935
10.
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
J Eur Acad Dermatol Venereol
; 35(10): e690-e693, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051131
11.
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.
Mol Genet Metab
; 131(1-2): 114-115, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690443
12.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clin Genet
; 87(3): 244-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635570
13.
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Clin Genet
; 94(1): 182-184, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29498412
14.
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Mol Psychiatry
; 16(8): 867-80, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20479760
15.
Evidence of a genetic heterogeneity of familial hydatidiform moles.
Placenta
; 26(1): 5-9, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15664405
16.
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Neurology
; 69(13): 1350-5, 2007 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-17893295
17.
A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13.
Neurology
; 67(5): 900-1, 2006 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-16966564
18.
Programmed cell death (apoptosis) is induced rapidly and with positive cooperativity by activation of cyclic adenosine monophosphate-kinase I in a myeloid leukemia cell line.
J Cell Physiol
; 146(1): 73-80, 1991 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-1846637
19.
Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population.
Mol Psychiatry
; 9(3): 272-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15094788