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Personal data sheet
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personal data approved: 2023. XII. 07.
Personal data
name Judit Bene
name of institution
doctoral school
PTE Doctoral School of Interdisciplinary Medical Sciences (Announcer of research topic)
the share of work in the different doctoral schools. PTE Doctoral School of Interdisciplinary Medical Sciences 100%
accreditation statement submitted to: University of Pécs
Contact details
E-mail address bene.juditpte.hu
phone number +36 72 536-097
Academic title
scientific degree, title Ph.D.
year degree was obtained 2009
discipline to which degree belongs multidisciplinary medicine
institution granting the degree Pécsi Tudományegyetem (to be translated)
Employment
1999 - University of Pécs
university professor or researcher
Thesis topic supervisor
number of doctoral students supervised until now 2
number of students who fulfilled course requirements 1
students who obtained their degrees:
Gergely Büki PhD 2023  DSIMS
completed course requirement:
Gréta Antal (PhD) 2022/08  DSIMS
  Thesis topic proposals
Research
research area Study of carnitine metabolism, as well as genetic, genomic and metabolomic investigation of rare diseases.
research field in which current research is conducted theoretical medicine
Publications
2023

 Büki Gergely, Bekő Anna, Bödör Csaba, Urbán Péter, Németh Krisztina, Hadzsiev Kinga, Fekete György, Kehrer-Sawatzki Hildegard, Bene Judit: Identification of an NF1 Microdeletion with Optical Genome Mapping, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 24: (17) 13580
type of document: Journal paper/Article
language: English
URL 
2023

 Buki Gergely, Hadzsiev Kinga, Bene Judit: 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 : A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome, CURRENT MOLECULAR MEDICINE 22: (5) pp. 433-441.
type of document: Journal paper/Article
language: English
URL 
2021

 Büki Gergely, Zsigmond Anna, Czakó Márta, Szalai Renáta, Antal Gréta, Farkas Viktor, Fekete György, Nagy Dóra, Széll Márta, Tihanyi Marianna, Melegh Béla, Hadzsiev Kinga, Bene Judit: Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions, FRONTIERS IN GENETICS 12: 673025
type of document: Journal paper/Article
number of independent citations: 10
language: English
URL 
2020

 Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kinga: Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy, SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 74: pp. 8-13.
type of document: Journal paper/Article
number of independent citations: 5
language: English
URL 
2019

 Schrauwen Isabelle, Melegh Béla I, Chakchouk Imen, Acharya Anushree, Nasir Abdul, Poston Alexis, Cornejo-Sanchez Diana M, Szabo Zsolt, Karosi Tamás, Bene Judit, Melegh Béla, Leal Suzanne M: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma., EUROPEAN JOURNAL OF HUMAN GENETICS 27: (6) pp. 869-878.
type of document: Journal paper/Article
number of independent citations: 8
language: English
URL 
2018

 Bene J, Hadzsiev K, Melegh B: Role of carnitine and its derivatives in the development and management of type 2 diabetes., NUTRITION & DIABETES 8: (1) 8
type of document: Journal paper/Review paper
number of independent citations: 108
language: English
URL 
2014

 Bene J, Melegh B: Biological insights from 108 schizophrenia-associated genetic loci, NATURE 511: (7510) pp. 421-427.
type of document:
number of independent citations: 4533
language: English
URL 
2013

 Bene J, Marton M, Mohas M, Bagosi Z, Bujtor Z, Oroszlan T, Gasztonyi B, Wittmann I, Melegh B: Similarities in Serum Acylcarnitine Patterns in Type 1 and Type 2 Diabetes Mellitus and in Metabolic Syndrome., ANNALS OF NUTRITION AND METABOLISM 62: (1) pp. 80-85.
type of document: Journal paper/Article
number of independent citations: 42
language: English
URL 
2006

 Havasi V, Szolnoki Z, Talian G, Bene J, Komlosi K, Maasz A, Somogyvari F, Kondacs A, Szabo M, Fodor L, Bodor A, Melegh B: Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke, JOURNAL OF MOLECULAR NEUROSCIENCE 29: (2) pp. 177-183.
type of document: Journal paper/Article
number of independent citations: 45
language: English
URL 
2002

 Vaz FM, Melegh B, Bene J, Cuebas D, Gage DA, Bootsma A, Vreken P, Van Genip AH, Bieber LL, Wanders RJ: Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tendem mass spectrometry, CLINICAL CHEMISTRY 48: pp. 826-834.
type of document: Journal paper/Article
number of independent citations: 26
language: English
URL 
Number of independent citations to these publications:4777 
Scientometric data
list of publications and citations
number of scientific publications that meet accreditation criteria:
151
number of scientific publications:
150
monographs and professional books:
0
monographs/books in which chapters/sections were contributed:
2 
number of independent citations to scientific publications and creative works:
11542


2024. IV. 17.
ODT ülés
Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).
 
All rights reserved © 2007, Hungarian Doctoral Council. Doctoral Council registration number at commissioner for data protection: 02003/0001. Program version: 2.2358 ( 2017. X. 31. )