Detalhe da pesquisa
1.
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Acta Neuropathol;
147(1): 64, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38556574
2.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
J Hum Genet;
68(4): 273-279, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36599954
3.
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Kidney Int;
88(6): 1402-1410, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26352300
4.
Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
J Am Acad Dermatol;
83(2): 604-607, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31374299
5.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
J Med Genet;
50(8): 500-6, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23592887
6.
Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with 'capsulomas' without FCLN gene abnormality.
Pathol Int;
63(10): 510-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24134681
7.
Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.
Thorax;
67(4): 289-95, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22271776
8.
Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.
J Inherit Metab Dis;
35(4): 635-40, 2012 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22302635
9.
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
J Am Acad Dermatol;
66(2): 259.e1-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21794948
10.
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
J Med Genet;
48(12): 860-3, 2011 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22058428
11.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Lancet Oncol;
12(1): 49-55, 2011 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21145788
12.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Nat Genet;
54(12): 1786-1794, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36411364
13.
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Hum Mutat;
32(4): 407-14, 2011 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21309036
14.
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
J Med Genet;
47(6): 385-90, 2010 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20522427
15.
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Hum Mutat;
31(1): E1043-51, 2010 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19802896
16.
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium.
Cancer Epidemiol Biomarkers Prev;
29(2): 368-378, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31792088
17.
Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.
J Community Genet;
10(2): 249-257, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30229537
18.
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
J Cyst Fibros;
18(1): 54-63, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30146269
19.
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.
Genet Test;
12(1): 25-35, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18373402
20.
Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.
J Pediatr Endocrinol Metab;
31(12): 1381-1386, 2018 Dec 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30447145