Detalhe da pesquisa
1.
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.
Br J Dermatol
; 180(3): 657-661, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30022487
2.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clin Genet
; 94(1): 141-152, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574747
3.
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Am J Med Genet A
; 176(12): 2813-2818, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365874
4.
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
5.
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Clin Genet
; 91(3): 431-440, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27062609
6.
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
7.
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
8.
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
9.
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Clin Genet
; 91(4): 576-588, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761913
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet
; 89(5): 630-5, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582393
16.
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
17.
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Am J Med Genet A
; 167(7): 1587-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899569
18.
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Eur J Med Genet
; 68: 104919, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355093
19.
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
20.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Clin Genet
; 84(6): 507-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23506379