Detalhe da pesquisa
1.
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
Am J Med Genet A
; 191(3): 896-898, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541401
2.
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Clin Genet
; 102(4): 350-351, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35791803
3.
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.
J Pediatr
; 225: 65-73.e5, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502478
4.
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Am J Med Genet A
; 182(9): 2152-2160, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618121
5.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
6.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med
; 20(11): 1374-1386, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29517769
7.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435373
8.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genet Med
; 18(9): 914-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820064
9.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110232
10.
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Gene
; 851: 146984, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270459
11.
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
12.
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.
Front Genet
; 13: 824510, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35299955
13.
Structural variation of chromosomes in autism spectrum disorder.
Am J Hum Genet
; 82(2): 477-88, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252227
14.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
J Med Genet
; 47(3): 169-75, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846429
15.
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Int J Cardiol
; 332: 99-104, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662488
16.
Case series, chemotherapy-induced cardiomyopathy: mind the family history!
Eur Heart J Case Rep
; 5(10): ytab333, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703979
17.
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Eur J Hum Genet
; 29(11): 1669-1676, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456334
18.
An updated and upgraded L1CAM mutation database.
Hum Mutat
; 31(1): E1102-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953645
19.
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
Eur J Hum Genet
; 28(2): 222-230, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527860
20.
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Eur J Hum Genet
; 28(6): 763-769, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157189