Iva Sakmaryová - Concepedia

Author

Iva Sakmaryová

Charles University

Also Known As

I Sakmaryová, I. Sakmaryová, IVA SAKMARYOVÁ, Iva Sakmaryová

Publications

384

Citations

H-Index

Concepts

All Affiliations

Charles University Thomayer University Hospital Friedrich-Alexander-Universität Erlangen-Nürnberg

About

Iva Sakmaryová is an author at Charles University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	197
2	Molecular Genetics	4	4	186
3	Public Health	1	1	11
4	Cell Biology	1	1	12
5	Molecular Biology	1	1	12

Iva Sakmaryová

Publications

367

Citations

H-Index

Page 1

	Year	Citations
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe Thilo Dörk, Milan Maçek, Frauke Mekus, Human Genetics FibrosisMendelian DisorderGenetic DisorderMedicineGenetics	2000	145
Spectrum and frequencies of mutations in the <i>GJB2</i> (<i>Cx26</i>) gene among 156 Czech patients with pre‐lingual deafness Pavel Seeman, Marcela Malíková, Dagmar Ras̆ková, Clinical Genetics	2004	56
High prevalence of the IVS 1 + 1 G to A/<i>GJB2</i> mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of <i>GJB2</i> Pavel Seeman, Iva Sakmaryová Clinical Genetics	2006	50
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies Petra Laššuthová, Dana Šišková, Jana Haberlová, Orphanet Journal of Rare Diseases	2014	20
GDAP1 mutations in Czech families with early-onset CMT L. Baránková, Emílie Vyhnálková, Stephan Züchner, Neuromuscular Disorders Mendelian DisorderGenetic DisorderGeneticsCzech FamiliesMolecular Genetics	2007	19
A 71‐nucleotide deletion in the periaxin gene in a Romani patient with early‐onset slowly progressive demyelinating CMT L. Baránková, Dana Šišková, Kathrin Hühne, European Journal of Neurology	2008	18
Three New <i>PLP1</i> Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease Petra Laššuthová, Markéta Žaliová, Ken Inoue, Journal of Child Neurology	2013	16
Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease Dana Šafka Brožková, Radim Mazanec, Jana Haberlová, Genetic Testing and Molecular Biomarkers Mendelian DisorderGenetic DisorderCharcot-marie-tooth DiseaseGeneticsPathogenesis	2009	12
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients Dana Šafka Brožková, Jan Posadka, Petra Laššuthová, Molecular Medicine Reports GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationPeripheral Nerves	2013	11
Quantitative Multiplex Real-Time PCR for Detection of <i>PLP1</i> Gene Duplications in Pelizaeus–Merzbacher Patients Emilie Mikešová, L. Baránková, Iva Sakmaryová, Genetic Testing	2006	10

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