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ArticlesPeer ReviewedFull Text
A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary
Author / Creator:Sümegi, Andrea ; Hendrik, Zoltán ; Gáll, Tamás ; Felszeghy, Enikő ; Szakszon, Katalin ; Antal-Szalmás, Péter ; Beke, Lívia ; Papp, Ágnes ; Méhes, Gábor ; Balla, József ; Balla, György
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-03, Vol.21 (1), p.61-61, Article 61
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ArticlesPeer ReviewedFull Text
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
Author / Creator:Gal, Aniko ; Grosz, Zoltán ; Borsos, Beata ; Szatmari, Ildikó ; Sebők, Agnes ; Jávor, Laszló ; Harmath, Veronika ; Szakszon, Katalin ; Dezsi, Livia ; Balku, Eniko ; Jobbagy, Zita ; Herczegfalvi, Agnes ; Almássy, Zsuzsanna ; Kerényi, Levente ; Molnar, Maria Judit
Publisher:Basel: MDPI AG
Journal title:Life (Basel, Switzerland), 2021-05, Vol.11 (6), p.507
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ArticlesPeer ReviewedFull Text
New mutations in the ATM gene and clinical data of 25 AT patients
Author / Creator:Demuth, Ilja ; Dutrannoy, Véronique ; Marques, Wilson ; Neitzel, Heidemarie ; Schindler, Detlev ; Dimova, Petja S. ; Chrzanowska, Krystyna H. ; Bojinova, Veneta ; Gregorek, Hanna ; Graul-Neumann, Luitgard M. ; von Moers, Arpad ; Schulze, Ilka ; Nicke, Marion ; Bora, Elcin ; Cankaya, Tufan ; Oláh, Éva ; Kiss, Csongor ; Bessenyei, Beáta ; Szakszon, Katalin ; Gruber-Sedlmayr, Ursula ; Kroisel, Peter Michael ; Sodia, Sigrun ; Goecke, Timm O. ; Dörk, Thilo ; Digweed, Martin ; Sperling, Karl ; de Sá, Joaquim ; Lourenco, Charles Marques ; Varon, Raymonda
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2011-11, Vol.12 (4), p.273-282
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ArticlesPeer ReviewedFull Text
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Author / Creator:Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie ; Cooper, Edward B ; Houge, Sofia Douzgou ; García-Miñaúr, Sixto ; Kayserili, Hülya ; Larizza, Lidia ; Lopez Gonzalez, Vanesa ; Menke, Leonie A ; Milani, Donatella ; Saettini, Francesco ; Stevens, Cathy A ; Tooke, Lloyd ; Van der Zee, Jill A ; Van Genderen, Maria M ; Van-Gils, Julien ; Waite, Jane ; Adrien, Jean-Louis ; Bartsch, Oliver ; Bitoun, Pierre ; Bouts, Antonia H M ; Cueto-González, Anna M ; Dominguez-Garrido, Elena ; Duijkers, Floor A ; Fergelot, Patricia ; Halstead, Elizabeth ; Huisman, Sylvia A ; Meossi, Camilla ; Mullins, Jo ; Nikkel, Sarah M ; Oliver, Chris ; Prada, Elisabetta ; Rei, Alessandra ; Riddle, Ilka ; Rodriguez-Fonseca, Cristina ; Rodríguez Pena, Rebecca ; Russell, Janet ; Saba, Alicia ; Santos-Simarro, Fernando ; Simpson, Brittany N ; Smith, David F ; Stevens, Markus F ; Szakszon, Katalin ; Taupiac, Emmanuelle ; Totaro, Nadia ; Valenzuena Palafoll, Irene ; Van Der Kaay, Daniëlle C M ; Van Wijk, Michiel P ; Vyshka, Klea ; Wiley, Susan ; Hennekam, Raoul C
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.503-519
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ArticlesPeer ReviewedFull Text
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Author / Creator:Lessel, Davor ; Ozel, Ayse Bilge ; Campbell, Susan E. ; Saadi, Abdelkrim ; Arlt, Martin F. ; McSweeney, Keisha Melodi ; Plaiasu, Vasilica ; Szakszon, Katalin ; Szőllős, Anna ; Rusu, Cristina ; Rojas, Armando J. ; Lopez-Valdez, Jaime ; Thiele, Holger ; Nürnberg, Peter ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Li, Jun Z. ; Kubisch, Christian ; Glover, Thomas W. ; Gordon, Leslie B.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-12, Vol.137 (11-12), p.921-939
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ArticlesPeer ReviewedFull Text
Genetic counselling legislation and practice in cancer in EU Member States
Author / Creator:McCrary, J Matt ; Van Valckenborgh, Els ; Poirel, Hélène A ; de Putter, Robin ; van Rooij, Jeroen ; Horgan, Denis ; Dierks, Marie-Luise ; Antonova, Olga ; Brunet, Joan ; Chirita-Emandi, Adela ; Colas, Chrystelle ; Dalmas, Miriam ; Ehrencrona, Hans ; Grima, Claire ; Janavičius, Ramūnas ; Klink, Barbara ; Koczok, Katalin ; Krajc, Mateja ; Lace, Baiba ; Leitsalu, Liis ; Mistrik, Martin ; Paneque, Milena ; Primorac, Dragan ; Roetzer, Katharina M ; Ronez, Joelle ; Slámová, Lucie ; Spanou, Elena ; Stamatopoulos, Kostas ; Stoklosa, Tomasz ; Strang-Karlsson, Sonja ; Szakszon, Katalin ; Szczałuba, Krzysztof ; Turner, Jacqueline ; van Dooren, Marieke F ; van Zelst-Stams, Wendy A G ; Vassallo, Loredana-Maria ; Wadt, Karin A W ; Žigman, Tamara ; Ripperger, Tim ; Genuardi, Maurizio ; Van den Bulcke, Marc ; Bergmann, Anke Katharina
Publisher:England: Oxford University Press
Journal title:European journal of public health, 2024-08, Vol.34 (4), p.666-675
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ArticlesPeer ReviewedFull Text
Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
Author / Creator:Szabó, Tímea Margit ; Balogh, István ; Ujfalusi, Anikó ; Szűcs, Zsuzsanna ; Madar, László ; Koczok, Katalin ; Bessenyei, Beáta ; Csürke, Ildikó ; Szakszon, Katalin
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-12, Vol.13 (12), p.2367
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ArticlesPeer ReviewedFull Text
Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary
Author / Creator:Szűcs, Zsuzsanna ; Fitala, Réka ; Nyuzó, Ágnes Renáta ; Fodor, Krisztina ; Czemmel, Éva ; Vrancsik, Nóra ; Bessenyei, Mónika ; Szabó, Tamás ; Szakszon, Katalin ; Balogh, István
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (9), p.1331
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ArticlesPeer ReviewedFull Text
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Author / Creator:Heard, Jean-Michel ; Vrinten, Charlotte ; Schlander, Michael ; Bellettato, Cinzia Maria ; van Lingen, Corine ; Scarpa, Maurizio
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.3-3, Article 3
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ArticlesPeer ReviewedFull Text
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Author / Creator:Kozma, Kinga ; Bembea, Marius ; Jurca, Claudia M. ; Ioana, Mihai ; Streață, Ioana ; Şoşoi, Simona Ş. ; Pirvu, Andrei ; Petchesi, Codruța D. ; Szilágyi, Ariana ; Sava, Cristian N. ; Jurca, Alexandru ; Ujfalusi, Anikó ; Szűcs, Zsuzsanna ; Szakszon, Katalin
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-10, Vol.12 (11), p.1674
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ReportsFull Text
Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
Author / Creator:Szabó, Tímea Margit ; Balogh, István ; Ujfalusi, Anikó ; Szűcs, Zsuzsanna ; Madar, László ; Koczok, Katalin ; Bessenyei, Beáta ; Csürke, Ildikó ; Szakszon, Katalin
Journal title:Genes, 2022, Vol.13 (12)
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A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

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New mutations in the ATM gene and clinical data of 25 AT patients

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

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Genetic counselling legislation and practice in cancer in EU Member States

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

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Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

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

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