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Role of carnitine and its derivatives in the development and management of type 2 diabetes

Nutrition & diabetes, 2018-03, Vol.8 (1), p.8-10, Article 8

2018

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Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies

International journal of molecular sciences, 2024-08, Vol.25 (15), p.8189

2024

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Copy Number Variations in Neuropsychiatric Disorders

International journal of molecular sciences, 2023-09, Vol.24 (18), p.13671

2023

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Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome

Current molecular medicine, 2023-01, Vol.23 (5), p.433-441

2023

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Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis

Current molecular medicine, 2020-01, Vol.20 (5), p.336-354

2020

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Editorial: Copy Number Variation in Rare Disorders

Frontiers in genetics, 2022-04, Vol.13, p.898059

2022

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Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5709

2024

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NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5732

2024

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Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101056, Article 101056

2024

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Identification of an NF1 Microdeletion with Optical Genome Mapping

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13580

2023

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Neurofibromatosis-1 microdeletiós szindróma: Molekuláris genetika és klinikai heterogenitás

Orvosi hetilap, 2022-12, Vol.163 (51), p.2041-2051

2022

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Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma

International journal of molecular sciences, 2023-08, Vol.24 (16), p.12886

2023

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Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene

International journal of molecular sciences, 2023-07, Vol.24 (15), p.12154

2023

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Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods

Pathology oncology research, 2024-08, Vol.30, p.1611813

2024

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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis

Pathology oncology research, 2024-05, Vol.30, p.1611768-1611768

2024

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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report

BMC pediatrics, 2023-03, Vol.23 (1), p.110-110, Article 110

2023

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Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

Molecular genetics & genomic medicine, 2023-07, Vol.11 (7), p.e2166-n/a

2023

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Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.869-878

2019

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Frontiers in genetics, 2021-06, Vol.12, p.673025-673025

2021

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Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations

Drug metabolism and pharmacokinetics, 2015-12, Vol.30 (6), p.453-456

2015

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Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients

World journal of gastroenterology : WJG, 2010-01, Vol.16 (2), p.176-183

Veronika Csngei Luca Járomi EnikSáfrány Csilla Sipeky Lili Magyari Bernadett Faragó Judit Bene Noémi Polgár Lilla Lakner Patrícia Sarlós Márta Varga Béla Melegh

2010

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MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

PloS one, 2015-04, Vol.10 (4), p.e0124232-e0124232

2015

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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

Journal of human genetics, 2011-03, Vol.56 (3), p.183-187

2011

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Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus

Orvosi hetilap, 2017-11, Vol.158 (47), p.1873-1882

2017

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Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases

Orvosi hetilap, 2017-07, Vol.158 (30), p.1188

2017

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Role of carnitine and its derivatives in the development and management of type 2 diabetes

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies

Copy Number Variations in Neuropsychiatric Disorders

Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome

Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis

Editorial: Copy Number Variation in Rare Disorders

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy

Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly

Identification of an NF1 Microdeletion with Optical Genome Mapping

Neurofibromatosis-1 microdeletiós szindróma: Molekuláris genetika és klinikai heterogenitás

Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene

Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations

Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus

Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases

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