Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Petr, Lnenicka"'
Publikováno v:
Arab journal of nephrology and transplantation. 6(1)
Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::15df937e49b27d0606b143769250efb2
https://pubmed.ncbi.nlm.nih.gov/23282232
https://pubmed.ncbi.nlm.nih.gov/23282232
Autor:
Martina Florianova, J. Soukalova, Renata Gaillyová, Šárka Prášilová, Věra Kebrdlová, Roman Solc, A. Baxova, R. Mihalova, Katerina Hirschfeldova, Stekrová J, Petr Lnenicka, J. Zapletalova
Publikováno v:
Gene. 491(2)
The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e43438f5abd0172710c31b8d4f7739b
https://pubmed.ncbi.nlm.nih.gov/22020182
https://pubmed.ncbi.nlm.nih.gov/22020182
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Autor:
Vera Kebrdlova, Milada Kohoutová, Ondrej Viklicky, Stekrová J, Jana Reiterova, Petr Lnenicka, Miroslav Merta, Stanislava Svobodova
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 78 (2009)
BMC Medical Genetics
BMC Medical Genetics
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly 85% of ADPKD patients) and PKD2 (affecting roughly 14% of ADPKD patients) g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e74b77d32ef5267891778c6e8781f224
http://www.biomedcentral.com/1471-2350/10/78
http://www.biomedcentral.com/1471-2350/10/78
Autor:
Stekrová J, Katerina Hirschfeldova, Vera Kebrdlova, Kamila Veselá, A. Baxova, Romana Mihalova, Petr Lnenicka, Roman Solc
Publikováno v:
Scopus-Elsevier
Aims: The aim of our study was to scan for cryptic rearrangements using the multiplex ligation probe amplification method in a cohort of 64 probands with mental retardation or developmental delays in combination with at least one of the following sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681c27c4b12aed27f7ba630a47d920d3
http://www.scopus.com/inward/record.url?eid=2-s2.0-81455150881&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-81455150881&partnerID=MN8TOARS
