Detalhe da pesquisa
1.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
2.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
3.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace
; 18(6): 888-96, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498160
4.
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Nat Genet
; 31(1): 55-9, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11967536
5.
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet Oncol
; 13(12): 1242-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140761
6.
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet
; 378(9809): 2081-7, 2011 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036019
7.
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Hum Mol Genet
; 18(14): 2643-55, 2009 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19414485
8.
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Am J Med Genet A
; 152A(9): 2287-96, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803646
9.
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
Eur J Med Genet
; 60(5): 233-238, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249770
10.
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Cold Spring Harb Mol Case Stud
; 3(1): a001271, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050600
11.
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
J Clin Endocrinol Metab
; 91(3): 827-36, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317055
12.
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
BMC Genomics
; 6: 38, 2005 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-15774015
13.
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
J Clin Oncol
; 33(31): 3591-7, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26282643
14.
An audit of screening for familial breast cancer before 50 years in the South Thames Region - have we got it right?
Fam Cancer
; 3(1): 29-34, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15131403
15.
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
Heart Rhythm
; 11(8): 1446-53, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24815523
16.
A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.
Int J Cardiol
; 203: 1084-5, 2016 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26651149
17.
Andersen-Tawil syndrome.
Int J Cardiol
; 148(1): e13-5, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19223265
18.
Novel features in auriculo-condylar syndrome.
Clin Dysmorphol
; 20(1): 1-10, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20733479
19.
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
J Clin Endocrinol Metab
; 96(12): E2009-13, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937622
20.
Clinical features and respiratory complications in Myhre syndrome.
Eur J Med Genet
; 54(6): e553-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21816239