Detalhe da pesquisa
1.
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nat Genet
; 38(3): 337-42, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16444271
2.
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nat Genet
; 38(4): 441-6, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16550169
3.
Lifestyle changes in women at genetic risk of breast cancer: an observational study.
Int J Behav Med
; 20(4): 514-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976351
4.
Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker.
Ann Clin Biochem
; 59(4): 272-276, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235491
5.
Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer.
United European Gastroenterol J
; 8(5): 559-566, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213041
6.
Mutations in the chromatin-associated protein ATRX.
Hum Mutat
; 29(6): 796-802, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18409179
7.
Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
J Endocr Soc
; 2(7): 806-816, 2018 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978154
8.
Trimethylaminuria (fish-odor syndrome): a case report.
Arch Dermatol
; 143(1): 81-4, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17224546
9.
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.
J Invest Dermatol
; 126(8): 1770-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16810297
10.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS One
; 11(4): e0153757, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124303
11.
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Hum Mutat
; 25(4): 413, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15776412
12.
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.
Int J Biochem Cell Biol
; 53: 520-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24747516
13.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Nat Genet
; 44(11): 1272-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064416
14.
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Nat Genet
; 43(4): 365-9, 2011 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21358634
15.
Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
J Invest Dermatol
; 119(5): 1202-3, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12445213
16.
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
J Invest Dermatol
; 133(7): 1907-10, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358096
17.
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
J Invest Dermatol
; 127(12): 2795-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17657246
18.
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?
J Invest Dermatol
; 127(10): 2336-44, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17554363