Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
3.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
7.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
8.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
9.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
10.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
11.
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Am J Med Genet A
; 179(11): 2252-2256, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373173
12.
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Hum Genet
; 137(5): 401-411, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796876
13.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
14.
Chromatin-Remodeling-Factor ARID1B Represses Wnt/ß-Catenin Signaling.
Am J Hum Genet
; 97(3): 445-56, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340334
15.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet
; 97(3): 493-500, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340335
16.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
; 136(7): 821-834, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28393272
17.
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL.
Haematologica
; 107(8): 1989-1993, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35081686
18.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862890
19.
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.
Birth Defects Res A Clin Mol Teratol
; 106(1): 16-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26680650
20.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int J Cancer
; 136(6): E578-89, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219767