Detalhe da pesquisa
1.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
2.
NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis.
Klin Padiatr
; 2023 Mar 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36931311
3.
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.
Front Pediatr
; 11: 1188098, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37351317
4.
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.
Epilepsia Open
; 8(1): 211-216, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36504316
5.
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Ital J Pediatr
; 49(1): 11, 2023 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36658659
6.
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
Nat Commun
; 14(1): 1502, 2023 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36932076
7.
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
Inglês
| MEDLINE | ID: mdl-22581207
8.
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Neurol Genet
; 8(5): e200032, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36324633
9.
Correlation between genetic and geographic structure in Europe.
Curr Biol
; 18(16): 1241-8, 2008 Aug 26.
Artigo
Inglês
| MEDLINE | ID: mdl-18691889
10.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat
; 30(7): 1093-103, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19462466
11.
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
J Cyst Fibros
; 15(6): 752-758, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27461140
12.
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
J Cyst Fibros
; 13(1): 15-23, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23891278
13.
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
Inglês
| MEDLINE | ID: mdl-23276700
14.
[Notes to the article Nekl R., Mockóva, A., Bierhanzlová, J., Kutilová J. "Meconium Ileus as a first symptom of cystic fibrosis in a newborn"]. / Poznámky k clánku autoru Nekl, R., Mocková, A., Bierhanzlová, J., Kutilová, J. "Mekoniový ileus jako první príznak cystické fibrózy u novorozence".
Cas Lek Cesk
; 146(2): 114, 2007.
Artigo
Tcheco
| MEDLINE | ID: mdl-17373104
15.
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Pediatr Rheumatol Online J
; 9(1): 27, 2011 Sep 13.
Artigo
Inglês
| MEDLINE | ID: mdl-21914180
16.
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
Inglês
| MEDLINE | ID: mdl-19208501
17.
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Eur J Hum Genet
; 17(7): 967-75, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19156175