Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis

Authors: Zsolt Bánfai, Gergely Büki, Valerián Ádám, Katalin Sümegi, András Szabó, Kinga Hadzsiev, Krisztián Erős, Ferenc Gallyas, Attila Miseta, Miklós Kásler, Béla Melegh

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)

Subject Terms: DNA microarray, Ancestry, Population structure, Csango, Allele frequency, Haplotype, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/9184416931fb4eaca715a538d0019f2b

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

Authors: Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

Source: Biomedicines, Vol 13, Iss 1, p 146 (2025)

Subject Terms: rare diseases, genotype–phenotype analyses, NGS, type 1 neurofibromatosis, splice-site mutations, NF1 gene, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/13/1/146; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/cad6e6aec5284bd6b8ed7910d5bae3ca

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

Authors: László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev

Source: Pathology and Oncology Research, Vol 30 (2024)

Subject Terms: HBOC, new generation sequencing, multigene panel testing, BRCA1, BRCA2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Pathology, RB1-214

File Description: electronic resource

Relation: https://www.por-journal.com/articles/10.3389/pore.2024.1611813/full; https://doaj.org/toc/1532-2807

Access URL: https://doaj.org/article/fb767625ea7a4894a3b07f00cc6af71e

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

Authors: Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto, Gergely Büki, László Kereskai, Zsuzsanna Herbert, Kinga Hadzsiev, Judit Bene

Source: Pathology and Oncology Research, Vol 30 (2024)

Subject Terms: Gardner syndrome, APC gene, osteoma, dental abnormalities, WES, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Pathology, RB1-214

File Description: electronic resource

Relation: https://www.por-journal.com/articles/10.3389/pore.2024.1611768/full; https://doaj.org/toc/1532-2807

Access URL: https://doaj.org/article/bd5a66604b974edfb4ce27256f95c395

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

Authors: Renata Szalai, Agnes Till, Attila Gyenesei, Judit Bene, Kinga Hadzsiev

Source: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101056- (2024)

Subject Terms: Microcephaly, ASPM, Prenatal, WES, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000090; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/ac7b525538d34fdeb4c993bd9a577b29

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

Authors: Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz

Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

Subject Terms: Neurofibromatosis 1, Neurofibromin 1, Pseudoachondroplasia, Cartilage oligomeric matrix protein, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/01050638aada46d6a2a539e23c80c091

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

Authors: Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene

Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)

Subject Terms: cardiovascular manifestation, FBN1, large deletion, Marfan syndrome, regulatory DNA, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/7ce16cd1cc9e49f5ba2ae7f3306333a8

Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study

Authors: Kinga Amália Sándor-Bajusz, Tímea Dergez, Edit Molnár, Kinga Hadzsiev, Ágnes Till, Anna Zsigmond, Attila Vástyán, Györgyi Csábi

Source: Frontiers in Psychology, Vol 14 (2023)

Subject Terms: cleft lip, cleft palate, neurodevelopment, executive function, developmental outcomes, Psychology, BF1-990

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyg.2023.1115304/full; https://doaj.org/toc/1664-1078

Access URL: https://doaj.org/article/d20cd4250895421493cf774ccf43d601

The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series

Authors: Petronella Orosz, Zita Kollák, Ákos Pethő, András Fogarasi, György Reusz, Kinga Hadzsiev, Tamás Szabó

Source: Children, Vol 10, Iss 3, p 420 (2023)

Subject Terms: tuberous sclerosis, angiomyolipoma, polycystic kidney, contiguous gene syndrome, NTHL1, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/10/3/420; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/a389d3ac66a14faca23fcd904bb85137

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

Authors: Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi, Béla Melegh, Kinga Hadzsiev, Judit Bene

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: copy number variation, type-1 NF1 microdeletion, type-2 NF1 microdeletion, atypical NF1 microdeletion, 17q11.2 deletion syndrome, array-CGH, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.673025/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/75ba48179dad408ba1fdbce5d024c1ba

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Authors: Márta Czakó, Ágnes Till, Judith Zima, Anna Zsigmond, András Szabó, Anita Maász, Béla Melegh, Kinga Hadzsiev

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: Xp11.23p11.22 duplication, array CGH, X-inactivation, speech and language delay, regression, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.635458/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d647181c38ce4b30832652ba88a7da7b

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Authors: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

Source: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

Subject Terms: Axial muscle atrophy, Myosin storage myopathy, MYH7, Stop loss mutation, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0463-y; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/11c4ce87bacd49b19c38023687eb5643

Refining the South Asian Origin of the Romani people

Authors: Bela I. Melegh, Zsolt Banfai, Kinga Hadzsiev, Attila Miseta, Bela Melegh

Source: BMC Genetics, Vol 18, Iss 1, Pp 1-13 (2017)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12863-017-0547-x; https://doaj.org/toc/1471-2156

Access URL: https://doaj.org/article/4d1c071f6b7245229730a43510ffe34a

Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area

Authors: Zsolt Bánfai, Béla I. Melegh, Katalin Sümegi, Kinga Hadzsiev, Attila Miseta, Miklós Kásler, Béla Melegh

Source: Frontiers in Genetics, Vol 10 (2019)

Subject Terms: population genetics, genome-wide data, population structure, ancestry estimation, admixture, East-Central Europe, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00558/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/83bda94c50d44e768c4972225acb5a91

Analysis of the Phenotypes in the Rett Networked Database

Authors: Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

Source: International Journal of Genomics, Vol 2019 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2314-436X; https://doaj.org/toc/2314-4378

Access URL: https://doaj.org/article/5503a980b8c64cb1aa57eb1f3caf31c0

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Authors: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

Source: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-1 (2017)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0510-8; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/57e5b627984a4d098d94ffd0b6ab70f0

Az emlotumorok genetikai háttere. (Hungarian)

Alternate Title: Genetic background of breast tumours. (English)

Authors: László, Baráti, Anita, Maász, Kinga, Hadzsiev

Source: Magyar Nőorvosok Lapja; Jun2024, Vol. 87 Issue 3, p129-132, 4p

Csecsemõkori gangliosidosisok diagnosztikai kihívásai három betegünk kapcsán. (Hungarian)

Authors: Tímea, Lõrincz-Molnár, Tímea, Bodó, Kinga, Hadzsiev, Anita, Gergely, András, Fogarasi

Source: Gyermekgyógyászat; 2023, Vol. 74 Issue 5, p264-268, 5p

Developmentális epilepsziás encephalopathiát okozó SCN2A és SCN8A mutáció egyidejû megjelenése. (Hungarian)

Alternate Title: Developmental epileptic encephalopathy due to concomitant SCN2A and SCN8A mutation. (English)

Authors: Tímea, Lõrincz-Molnár, Tímea, Bodó, Márta, Hegyi, Zsuzsa, Siegler, Kinga, Hadzsiev, Rita, Jakus, Barbara, Patócs, Bence, Ambrus, Kristóf, Zágonyi, Eszter, Kormos, András, Fogarasi

Source: Gyermekgyógyászat; 2023, Vol. 74 Issue 3, p137-140, 4p

Subject Terms: GENETIC testing, EPILEPTIFORM discharges, SODIUM channels, DEVELOPMENTAL delay, GENETIC mutation, EPILEPSY, BRUGADA syndrome

Tisztelt Szerkesztoség! (Hungarian)

Authors: Kinga, Hadzsiev, Berenténé, Judit, Bene, Márta, Czakó, Béla, Veszprémi, Gábor, Molnár, Kálmán, Kovács

Source: Magyar Nőorvosok Lapja; Jun2024, Vol. 87 Issue 3, p172-173, 2p