Detalhe da pesquisa
1.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Brain
; 146(11): 4766-4783, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437211
2.
CHARGE syndrome and related disorders: a mechanistic link.
Hum Mol Genet
; 30(23): 2215-2224, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230955
3.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961568
4.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941880
5.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
6.
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
J Med Genet
; 57(9): 581-589, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303604
7.
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
8.
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Hum Mol Genet
; 27(8): 1343-1352, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432577
9.
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Brain
; 142(1): 80-92, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30544257
10.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
11.
An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.
Am J Med Genet A
; 179(8): 1459-1465, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31134750
12.
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
Trends Genet
; 31(10): 600-611, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411921
13.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
14.
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
Am J Med Genet C Semin Med Genet
; 175(4): 397-406, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29171162
15.
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
Am J Med Genet C Semin Med Genet
; 175(4): 450-464, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168326
16.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
17.
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).
Am J Med Genet A
; 173(3): 684-691, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160409
18.
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.
J Pediatr
; 176: 150-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27321065
19.
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
Am J Med Genet A
; 170A(5): 1148-54, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850571
20.
Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.
Am J Med Genet A
; 170(8): 2022-30, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27145116