M. Trková

发表

Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

T. Kalina, M. Vlková, J. Stuchly, 2017, Scientific Reports.

Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

T. Kalina, M. Vlková, J. Stuchly, 2017, Scientific reports.

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

M. Trková, Z. Sedlacek, P. Goetz, 2002, Journal of Human Genetics.

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

M. Trková, S. Tuft, A. Davidson, 2022, Journal of clinical medicine.

Axenfeld-Rieger syndrome: more than meets the eye

Deborah M. Costakos, M. Trková, G. Richard, 2022, Journal of Medical Genetics.

Early Diagnosis of the Chromosomal Deletion 5q14.2-q21.3 in a Preterm Newborn: Case Report

J. Lisý, M. Trková, V. Bečvářova, 2013 .

Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

M. Trková, Z. Sedlacek, M. Kotrová, 2018, American journal of medical genetics. Part A.

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

M. Trková, Z. Sedlacek, D. Sumerauer, 2007, Cancer.

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

M. Trková, J. Horáček, M. Hynek, 2012, American journal of medical genetics. Part A.

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

M. Trková, J. Horáček, V. Bečvářova, 2015, European journal of medical genetics.

Coarctation of the aorta in Noonan‐like syndrome with loose anagen hair

M. Trková, J. Lebl, A. Křepelová, 2014, American journal of medical genetics. Part A.

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

M. Trková, P. Seeman, P. Laššuthová, 2018, Genetic testing and molecular biomarkers.

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

M. Trková, Z. Sedlacek, Z. Zemanová, 2011, Cytogenetic and Genome Research.

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

M. Trková, Z. Sedlacek, R. Kodet, 2005, European journal of cancer.

Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

M. Trková, Z. Sedlacek, M. Macek, 2011, Cancer genetics.

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

M. Trková, L. Forétova, Z. Sedlacek, 2003, Cancer genetics and cytogenetics.

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

M. Trková, Z. Šumník, J. Lebl, 2016, Hormone Research in Paediatrics.

Minimal residual disease in BCR::ABL1-positive acute lymphoblastic leukemia: different significance in typical ALL and in CML-like disease

J. Stuchly, M. Trková, E. Froňková, 2022, Leukemia.

Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer.

M. Babjuk, M. Trková, Z. Sedlacek, 2006, Cancer Letters.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

M. Trková, S. Tuft, V. Plagnol, 2015, European Journal of Human Genetics.

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization

M. Trková, V. Plagnol, Nikolas Pontikos, 2018, Stem Cell Reviews and Reports.

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Jacob C. Ulirsch, M. Daly, S. Orkin, 2015, The Journal of clinical investigation.

TP53 Gene Mutations Are Rare in Nondysplastic Barrett's Esophagus

M. Trková, Z. Sedlacek, D. Kodetová, 2006, Digestive Diseases and Sciences.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

M. Trková, O. Ulmanová, P. Lišková, 2017, Molecular Biology Reports.

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

M. Trková, J. Srovnal, M. Procházka, 2019, PeerJ.

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism

M. Trková, J. Srovnal, M. Procházka, 2019, PeerJ.

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

M. Trková, P. Seeman, M. Malíková, 2018, Journal of Human Genetics.

Increased micronuclei frequencies in couples with reproductive failure.

M. Trková, J. Stankova, J. Staňková, 2000, Reproductive toxicology.

Monitoring of childhood ALL using BCR-ABL1 genomic breakpoints identifies a subgroup with CML-like biology.

M. Trková, E. Froňková, J. Zuna, 2017, Blood.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

M. Trková, Z. Sedlacek, M. Vlčková, 2013, Gene.

Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

T. Kalina, M. Vlková, J. Stuchly, 2017, Scientific Reports.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

The application of comparative genomic hybridization to previously karyotyped cervical cancer cell lines.

M. Trková, J. Parrington, A. Thein, 2000, Cancer genetics and cytogenetics.

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.

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

M. Trková, Z. Sedlacek, M. Havlovicová, 2016, Neuropsychiatric disease and treatment.

The expression of PAX5, p53 immunohistochemistry and p53 mutation analysis in superficial bladder carcinoma tissue. Correlation with pathological findings and clinical outcome

M. Babjuk, M. Trková, Z. Sedlacek, 2004, International Urology and Nephrology.

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

M. Trková, M. Hynek, V. Bečvářova, 2016, American journal of medical genetics. Part A.

Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

T. Kalina, M. Vlková, Ondřej Pelák, 2017, Scientific Reports.

Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

T. Kalina, M. Vlková, Ondřej Pelák, 2017, Scientific Reports.

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

M. Trková, P. Seeman, M. Malíková, 2018, Journal of Human Genetics.

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8

M. Trková, P. Seeman, P. Laššuthová, 2016, Journal of Human Genetics.

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

M. Trková, O. Ulmanová, P. Lišková, 2017, Molecular Biology Reports.

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.

Supplementary Information for : Fetal hemoglobin persistence and neurodevelopmental alterations due to BCL 11 A deletions

M. Daly, S. Orkin, M. Trková, 2015 .