Detalhe da pesquisa
1.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
2.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058622
3.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100091
4.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Blood
; 132(12): 1318-1331, 2018 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29914977
5.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838450
6.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
7.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
8.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026061
9.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
10.
Outcomes of intra-detrusor injections of botulinum toxin in patients with spina bifida: A systematic review.
Neurourol Urodyn
; 36(3): 557-564, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27187872
11.
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Am J Hum Genet
; 93(3): 561-70, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993197
12.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193221
13.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420639
14.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Am J Med Genet A
; 167(6): 1252-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847481
15.
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
16.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
; 9(10): eade1463, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897941
17.
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.
Mol Genet Metab
; 106(3): 345-50, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22647716
18.
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
Am J Med Genet A
; 158A(10): 2407-11, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887781
19.
Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up.
J Pediatr
; 156(5): 771-6, 776.e1, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20171652
20.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Eur J Hum Genet
; 28(8): 1044-1055, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071410