Detalhe da pesquisa
1.
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Eur J Pediatr
; 171(8): 1223-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581207
2.
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.
Hum Genet
; 126(6): 763-78, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19662435
3.
Detection of two Alu insertions in the CFTR gene.
J Cyst Fibros
; 7(1): 37-43, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17531547
4.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23276700
5.
Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
J Invest Dermatol
; 131(8): 1644-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21490620
6.
Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
J Cyst Fibros
; 8(3): 224-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208501
7.
A common variant on chromosome 11q13 is associated with atopic dermatitis.
Nat Genet
; 41(5): 596-601, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19349984
8.
Genetic structure of Europeans: a view from the North-East.
PLoS One
; 4(5): e5472, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19424496