Detalhe da pesquisa
1.
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Clin Genet
; 104(5): 587-592, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431644
2.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
3.
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Clin Genet
; 101(3): 364-370, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904221
4.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
5.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
6.
LEF1 haploinsufficiency causes ectodermal dysplasia.
Clin Genet
; 97(4): 595-600, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022899
7.
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
em Inglês
| MEDLINE | ID: mdl-30923172
8.
Theoretical investigation of the platinum substrate influence on BaTiO3 thin film polarisation.
Phys Chem Chem Phys
; 21(8): 4367-4374, 2019 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30724921
9.
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Prenat Diagn
; 39(10): 871-882, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172545
10.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
11.
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Am J Med Genet A
; 176(11): 2325-2330, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328679
12.
The nature of the Pt(111)/α-Fe2O3(0001) interfaces revealed by DFT calculations.
J Chem Phys
; 148(20): 204701, 2018 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29865805
13.
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Am J Med Genet A
; 173(8): 2081-2087, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28573701
14.
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
BMC Med Genet
; 16: 77, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26329556
15.
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Prenat Diagn
; 35(1): 35-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118001
16.
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Prenat Diagn
; 35(8): 801-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962607
17.
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Am J Med Genet A
; 164A(9): 2335-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24891185
18.
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Am J Med Genet A
; 164A(10): 2504-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975584
19.
What singles out the G[8-5]C intrastrand DNA cross-link? Mechanistic and structural insights from quantum mechanics/molecular mechanics simulations.
Biochemistry
; 52(2): 425-31, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23256602
20.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenat Diagn
; 33(1): 32-41, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23168908