Detalhe da pesquisa
1.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 143(6): 761-773, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
2.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
3.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
4.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
5.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet
; 98(1): 91-98, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335897
6.
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
Am J Hum Genet
; 97(4): 621-6, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387593
7.
The ontogeny of Robin sequence.
Am J Med Genet A
; 176(6): 1349-1368, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696787
8.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
9.
Mortality in Robin sequence: identification of risk factors.
Eur J Pediatr
; 177(5): 781-789, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29492661
10.
Robin Sequence: Continuing Heterogeneity in Nomenclature and Diagnosis.
J Craniofac Surg
; 29(4): 985-987, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29485558
11.
Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study.
Prenat Diagn
; 37(2): 162-167, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943390
12.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
13.
Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.
Am J Med Genet A
; 167A(9): 1972-82, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25994858
14.
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Am J Med Genet A
; 167A(9): 1983-92, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033782
15.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
16.
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Eur J Paediatr Neurol
; 41: 91-98, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410285
17.
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Hum Mutat
; 32(2): E2018-25, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21280141
18.
Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder.
Front Pediatr
; 9: 651995, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34277514
19.
Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary.
J Clin Med
; 10(21)2021 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768332
20.
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Eur J Hum Genet
; 27(7): 1101-1112, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850703