Laszlo Madar

Debrecen, HB 4032, Hungary

Last Updated: 09/26/2026

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Found 19 publications

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.

Journal: International journal of molecular sciences

Published: September 06, 2023

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Journal: Genes

Published: November 20, 2022

Genetic revision of the Hungarian Cystic Fibrosis Registry

Genetic revision of the Hungarian Cystic Fibrosis Registry

Journal: Orvosi hetilap

Published: August 31, 2022

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Journal: Genes

Published: December 20, 2021

A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.

A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.

Journal: Life (Basel, Switzerland)

Published: June 29, 2021

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Journal: Life (Basel, Switzerland)

Published: June 29, 2021

A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.

A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.

Journal: Cureus

Published: January 25, 2021

Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.

Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.

Journal: Diagnostics (Basel, Switzerland)

Published: December 09, 2020

A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation - Testing several different ITD sequences and rates, simultaneously.

A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation - Testing several different ITD sequences and rates, simultaneously.

Journal: Journal of biotechnology

Published: February 12, 2019

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

Journal: Journal of biotechnology

Published: January 31, 2019

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.

Journal: Prenatal diagnosis

Published: January 22, 2018

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Journal: Pediatric nephrology (Berlin, Germany)

Published: January 09, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026