P. Vyleťal

发表

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

K. Hodaňová, S. Kmoch, J. Živný, 2010, Clinical nephrology.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Y. Chagnon, M. Kalbáčová, J. Fryns, 2005, Kidney international.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

B. Blumenstiel, K. Hodaňová, O. Viklicky, 2018, Journal of the American Society of Nephrology : JASN.

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

J. Bártl, J. Krijt, B. Stibůrková, 2012, Clinica chimica acta; international journal of clinical chemistry.

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

K. Hodaňová, H. Hartmannová, S. Kmoch, 2022, bioRxiv.

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

D. Cooper, M. Krawczak, H. Blom, 2006, Human mutation.

Uromodulin Biology and Pathophysiology – An Update

S. Kmoch, A. Bleyer, P. Vyleťal, 2010, Kidney and Blood Pressure Research.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

A. Cavalié, K. Hodaňová, V. Helms, 2022, Life Science Alliance.

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases

B. Blumenstiel, Elizabeth Swain, K. Hodaňová, 2019, Genetics in Medicine.