Search details
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38471765
2.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer
; 63(5): e23237, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38722212
3.
Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.
Am J Med Genet A
; : e63605, 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38752492
4.
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
Gynecol Oncol
; 187: 198-203, 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38795508
5.
Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme.
Br J Cancer
; 129(5): 791-796, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37468570
6.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32891193
7.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37307877
8.
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Am J Hum Genet
; 104(6): 1040-1059, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31079900
9.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clin Genet
; 100(6): 692-702, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34463354
10.
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
J Pediatr Surg
; 59(3): 459-463, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37989646
11.
High anaplastic lymphoma kinase immunohistochemical staining in neuroblastoma and ganglioneuroblastoma is an independent predictor of poor outcome.
Am J Pathol
; 180(3): 1223-1231, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22203052
12.
A novel and fast normalization method for high-density arrays.
Stat Appl Genet Mol Biol
; 11(4)2012 Jul 12.
Article
in English
| MEDLINE | ID: mdl-22850064
13.
A large family with MSH3-related polyposis.
Fam Cancer
; 22(1): 49-54, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35675019
14.
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?
Eur J Hum Genet
; 29(5): 789-799, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33437034
15.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Eur J Hum Genet
; 28(1): 40-49, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31488895
16.
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
J Clin Endocrinol Metab
; 103(2): 415-428, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29165578
17.
Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.
Endocr Relat Cancer
; 21(4): 653-61, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24951106
18.
Downregulation of Axl in non-MYCN amplified neuroblastoma cell lines reduces migration.
Gene
; 521(1): 62-8, 2013 May 25.
Article
in English
| MEDLINE | ID: mdl-23523856
19.
Epigenetic drug combination induces genome-wide demethylation and altered gene expression in neuro-ectodermal tumor-derived cell lines.
Cell Oncol (Dordr)
; 36(5): 351-62, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23864224
20.
Anaplastic lymphoma kinase (ALK) inhibitor response in neuroblastoma is highly correlated with ALK mutation status, ALK mRNA and protein levels.
Cell Oncol (Dordr)
; 34(5): 409-17, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21625996