J. Laštůvková

发表

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

P. Seeman, F. Cihlář, A. Mészárosová, 2020, Clinical dysmorphology.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

P. Seeman, R. Mazanec, J. Haberlová, 2016, Clinical genetics.

Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

L. Kozák, J. Laštůvková, L. Kotrbová, 2007, Journal of Inherited Metabolic Disease.

Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene.

J. Štekrová, J. Kotlas, K. Hirschfeldova, 2019, Neoplasma.

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

M. Skopkova, D. Gašperíková, P. Seeman, 2020, Orphanet Journal of Rare Diseases.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

P. Seeman, Z. Čada, J. Laštůvková, 2020, Clinical genetics.

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

Z. Sedlacek, M. Vlčková, M. Hancarova, 2018, Cytogenetic and Genome Research.

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

J. Savige, J. Zapletalová, M. Vlčková, 2023, Frontiers in Medicine.

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

P. Seeman, J. Plzák, R. Černý, 2019, European Archives of Oto-Rhino-Laryngology.

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

A. Baxova, M. Tesařová, J. Zeman, 2020, The Journal of dermatology.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

D. Gašperíková, P. Seeman, L. Varga, 2021, Genes.

Author response for "Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by NGS gene panel and WES"

P. Seeman, Z. Čada, A. Mészárosová, 2020 .

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

M. Trková, P. Seeman, J. Laštůvková, 2012, International journal of pediatric otorhinolaryngology.

DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population

M. Trková, H. Štěpánková, P. Seeman, 2012, Clinical genetics.

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

M. Trková, P. Seeman, M. Vyhnálek, 2019, Journal of Clinical Neuroscience.