Detalhe da pesquisa
1.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
J Med Genet
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38849204
2.
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Clin Genet
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38779778
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; 194(7): e63531, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
4.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Hum Genet
; 142(7): 879-907, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148394
5.
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
6.
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Hum Mutat
; 43(9): 1125-1148, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451537
7.
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Hum Mutat
; 43(10): 1443-1453, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801529
8.
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Cytogenet Genome Res
; 162(3): 124-131, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35609520
9.
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
10.
Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Cytogenet Genome Res
; 161(3-4): 143-152, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827072
11.
Performance of diagnostic ultrasound to identify causes of hydramnios.
Prenat Diagn
; 41(1): 111-122, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920845
12.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399598
13.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Mol Hum Reprod
; 26(9): 665-677, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634216
14.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
15.
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
16.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Hum Mutat
; 40(7): 886-892, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924587
17.
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Cytogenet Genome Res
; 159(4): 201-207, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865337
18.
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Am J Med Genet A
; 179(6): 993-1000, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888095
19.
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
20.
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
J Hum Genet
; 63(5): 691-698, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540854