Detalhe da pesquisa
1.
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
J Eur Acad Dermatol Venereol
; 38(2): 413-418, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684051
2.
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
J Eur Acad Dermatol Venereol
; 36(8): 1349-1358, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445468
3.
Children at risk for dyslexia show deficient left-hemispheric memory representations for new spoken word forms.
Neuroimage
; 229: 117739, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454404
4.
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
J Intern Med
; 290(2): 404-415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955087
5.
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
J Eur Acad Dermatol Venereol
; 35(9): 1874-1880, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914963
6.
Enrichment of rare copy number variation in children with developmental language disorder.
Clin Genet
; 94(3-4): 313-320, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851021
7.
Single-cell transcriptome analysis of endometrial tissue.
Hum Reprod
; 31(4): 844-53, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26874359
8.
Evidence of streptococcal origin of acute non-necrotising cellulitis: a serological study.
Eur J Clin Microbiol Infect Dis
; 34(4): 669-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403372
9.
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.
Cleft Palate Craniofac J
; 51(1): 49-55, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23394314
10.
Introduction of complementary foods in infancy and atopic sensitization at the age of 5 years: timing and food diversity in a Finnish birth cohort.
Allergy
; 68(4): 507-16, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23510377
11.
Recurrent cellulitis with benzathine penicillin prophylaxis is associated with diabetes and psoriasis.
Eur J Clin Microbiol Infect Dis
; 32(3): 369-72, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23007460
12.
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
Nat Genet
; 2(2): 157-60, 1992 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-1338910
13.
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.
Nat Genet
; 25(3): 324-8, 2000 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10888883
14.
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Nat Genet
; 13(4): 409-16, 1996 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8696334
15.
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.
Nat Genet
; 14(3): 316-9, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8896562
16.
A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.
Nat Genet
; 28(1): 87-91, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11326283
17.
Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk.
Tissue Antigens
; 78(6): 428-37, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22077623
18.
NANOG priming before full reprogramming may generate germ cell tumours.
Eur Cell Mater
; 22: 258-74; discussio 274, 2011 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22071697
19.
Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing.
Clin Exp Allergy
; 40(3): 458-67, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20210814
20.
Molecular genetic and epigenetic analysis of NCX2/SLC8A2 at 19q13.3 in human gliomas.
Neuropathol Appl Neurobiol
; 36(3): 198-210, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20132488