Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36368327
2.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38288683
3.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32227665
4.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31363182
5.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31793730
6.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32319008
7.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Clin Genet
; 95(1): 177-181, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30298622
8.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31273809
9.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27008887
10.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29236161
11.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25466283
12.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25790162
13.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26288984
14.
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Eur J Hum Genet
; 2024 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38806662
15.
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Arch Pediatr
; 31(2): 112-116, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38262863
16.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37035737
17.
Barth syndrome in a female patient.
Mol Genet Metab
; 106(1): 115-20, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22410210
18.
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Hum Reprod
; 27(11): 3337-46, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22888167
19.
Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome.
Prenat Diagn
; 32(5): 423-6, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22495616
20.
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Prenat Diagn
; 32(7): 692-4, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22517486