Project information
Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

Project Identification

16-29447A (kod CEP: NV16-29447A)

Project Period

4/2016 - 12/2019

Investor / Pogramme / Project type

Ministry of Health of the CR

Ministry of Health Research Programme 2015 - 2022

MU Faculty or unit

Central European Institute of Technology

Cooperating Organization

University Hospital Brno-Bohunice

Responsible person Bc. Kateřina Kolesová

Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

Publications

Total number of publications: 23

2023

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy

TRIZULJAK Jakub DUBEN Jakub BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina ŠTIKA Jiří RADOVÁ Lenka BERGEROVÁ Veronika MEJSTŘÍKOVÁ Soňa HOŘÍNOVÁ Věra JANČÁLEK Radim POSPÍŠILOVÁ Šárka DOUBEK Michael

Article in Periodical

Molecular Syndromology, year: 2023, volume: 14, edition: 5, DOI
Rozsáhlá delece 22q12 u pacienta s oboustranným Schwannomem, mentální retardací, percepční sluchovou poruchou a epilepsií.

TRIZULJAK Jakub DUBEN Jakub BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina ŠTIKA Jiří RADOVÁ Lenka BERGEROVÁ Veronika MEJSTŘÍKOVÁ Soňa HOŘÍNOVÁ Věra JANČÁLEK Radim POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2023, type: Conference abstract

2020

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

TRIZULJAK Jakub PETRUCHOVÁ Terezie BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana HORINOVA Vera DOUBKOVÁ Martina MICHALKA Jozef MAYER Jiří POSPÍŠILOVÁ Šárka DOUBEK Michael

Article in Periodical

Molecular Syndromology, year: 2020, volume: 11, edition: 2, DOI
Functional testing of gene variants in inherited thrombocytopenias.

SKALNÍKOVÁ Magdalena STAŇO KOZUBÍK Kateřina PEŠOVÁ Michaela VRZALOVÁ Zuzana TRIZULJAK Jakub RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2020, type: Conference abstract
Characterization of pathogenic variants associated with hereditary thrombocytopenias in families from the Czech republic.

VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina RADOVÁ Lenka TRIZULJAK Jakub POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2020, type: Conference abstract
Uncovering rare hematological entities: Shwachman-Diamond syndrome in a pair of siblings with neutropenia and recurrent infections.

TRIZULJAK Jakub VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2020, type: Conference abstract

2019

A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia

STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub PEŠOVÁ Michaela PÁL Karol RÉBLOVÁ Kamila RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2019, type: Conference abstract
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

DOUBKOVÁ Martina STAŇO KOZUBÍK Kateřina RADOVÁ Lenka PEŠOVÁ Michaela TRIZULJAK Jakub PÁL Karol SVOBODOVÁ Klára RÉBLOVÁ Kamila SVOZILOVÁ Hana VRZALOVÁ Zuzana POSPÍŠILOVÁ Šárka DOUBEK Michael

Article in Periodical

HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI
A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy

TRIZULJAK Jakub DOUBKOVÁ Martina HRAZDIROVÁ Anna VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2019, type: Conference abstract
Familial leukemia associated with thrombocytopenia

TRIZULJAK Jakub DOUBEK Michael

Chapter of a book

Germ Line Mutations Associated Leukemia, year: 2019, number of pages: 16 s.