Detalhe da pesquisa
1.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Ann Oncol
; 33(12): 1318-1327, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122798
2.
Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
BJOG
; 125(11): 1451-1458, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460478
3.
Antibody deficiency in Rubinstein-Taybi syndrome.
Clin Genet
; 89(3): 355-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307339
4.
Help or hindrance: young people's experiences of predictive testing for Huntington's disease.
Clin Genet
; 87(6): 563-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24891047
5.
Common genetic variants on 1p13.2 associate with risk of autism.
Mol Psychiatry
; 19(11): 1212-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24189344
6.
An investigation of the clinical impact and therapeutic relevance of a DNA damage immune response (DDIR) signature in patients with advanced gastroesophageal adenocarcinoma.
ESMO Open
; 9(5): 103450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744099
7.
Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
Clin Genet
; 82(1): 71-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21651513
8.
Deregulation of EIF4E: a novel mechanism for autism.
J Med Genet
; 46(11): 759-65, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19556253
9.
Amniocentesis in the second trimester and congenital talipes equinovarus in the offspring: a population-based record linkage study in Scotland.
Prenat Diagn
; 29(6): 613-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19294682
10.
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
J Med Genet
; 43(5): 451-6, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16183801
11.
Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study.
BMC Musculoskelet Disord
; 8: 62, 2007 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17610748
12.
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.
Eur J Hum Genet
; 7(6): 729-32, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10482964
13.
Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach.
Eur J Hum Genet
; 9(12): 953-6, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11840198
14.
Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: results from a large population-based study and systematic review.
Thromb Haemost
; 87(5): 779-85, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12038776
15.
Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR).
Cancer Lett
; 181(1): 65-71, 2002 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-12430180
16.
Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening.
BMJ
; 310(6976): 353-7, 1995 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-7866213
17.
Epidemiology and genetic theories in the etiology of congenital talipes equinovarus.
Bull Hosp Jt Dis
; 58(1): 59-64, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10431636
18.
Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.
Health Technol Assess
; 16(17): 1-266, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22469073
19.
Genetic information but not termination: pregnant women's attitudes and willingness to pay for carrier screening for deafness genes.
J Med Genet
; 40(6): e80, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12807979
20.
Counting the benefits of screening: a pilot study of willingness to pay for cystic fibrosis carrier screening.
J Med Screen
; 1(2): 82-3, 1994 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-8790491