Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
Hum Mol Genet
; 32(12): 2016-2031, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821639
3.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet
; 109(8): 1549-1558, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858628
4.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
5.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
J Eur Acad Dermatol Venereol
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38595321
6.
Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders.
Int J Paediatr Dent
; 34(2): 145-152, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37655712
7.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
8.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
9.
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am J Med Genet A
; 191(9): 2428-2432, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462082
10.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
11.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
12.
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
Am J Med Genet A
; 188(7): 1954-1963, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285131
13.
Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.
Amino Acids
; 54(4): 485-499, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273022
14.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820033
15.
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Neurogenetics
; 22(2): 137-141, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677721
16.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Hum Genet
; 140(9): 1395-1401, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313816
17.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
18.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Clin Genet
; 100(5): 628-633, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415064
19.
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Hum Mutat
; 41(9): 1645-1661, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623794
20.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190