Jana Saligová
5 Papers
Jana Saligová is an academic researcher. The author has contributed to research in topics: Newborn screening & Hyperuricosuria. The author has an hindex of 2, co-authored 2 publications.
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Papers
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
Kanika I. Dharmayat,Antonio J. Vallejo-Vaz,C. A. Stevens,Julia M. Brandts,Alexander R.M. Lyons,Urh Groselj,Marianne Abifadel,Carlos A. Aguilar-Salinas,Khalid Alhabib,Mutaz Alkhnifsawi,Wael Almahmeed,Fahad Alnouri,Rodrigo Alonso,K. Al-Rasadi,Tester F. Ashavaid,Maciej Banach,S. Béliard,Christoph J Binder,Mafalda Bourbon,Krzysztof Chlebus,Pablo Corral,Diogo Cruz,Olivier S. Descamps,E. Drogari,Ronen Durst,M. Ezhov,J. Genest,Mariko Harada-Shiba,Kirsten B. Holven,Steve E. Humphries,W. Khovidhunkit,Katarina Lalic,U. Laufs,Evangelos Liberopoulos,Jeanine Roeters van Lennep,Marcos Lima-Martínez,Jie Lin,Vincent Maher,Winfried März,André R. Miserez,Olena Mitchenko,Hapizah Md Nawawi,Andrie G. Panayiotou,G. Paragh,Arman Postadzhiyan,Ashraf Reda,Željko Reiner,X. Reyes,Fouzia Sadiq,Amirhossein Sahebkar,H. Schunkert,Aleksandr B Shek,Eric Stroes,Ta-Chen Su,Tavintharan Subramaniam,Andrey V. Susekov,A. Cárdenas,Thanh-Huong Truong,Alexandros D. Tselepis,Branislav Vohnout,Luya Wang,Shizuya Yamashita,Ahmad Al-Sarraf,Nasreen Al-Sayed,Kairat Davletov,Bambang Dwiputra,Dan Gaita,M. Kayikcioglu,Gustavs Latkovskis,A. D. Marais,Anne Thushara Matthias,Erkin M. Mirrakhimov,Børge G. Nordestgaard,Zaneta Petrulioniene,Belma Pojskic,Wilson Sadoh,Myra Tilney,Brian Tomlinson,Anne Tybjærg-Hansen,M. Viigimaa,A. L. Catapano,Tomas Freiberger,G. Hovingh,Pedro Mata,Handrean Soran,F. Raal,Gerald F. Watts,Laura Schreier,V. Bañares,Susanne Greber-Platzer,M. Baumgartner-Kaut,Charlotte de Gier,Hans Dieplinger,Florian Höllerl,R. Innerhofer,Daniela Karall,Julia Lischka,B. Ludvik,Martin Mäser,Sabine Scholl-Bürgi,Alexandra Thajer,Hermann Toplak,Fabian Demeure,A. Mertens,Jean-Luc Balligand,Xavier Stéphenne,Etienne Sokal,Ivo Petrov,A. Goudev,Fedya Nikolov,S Tisheva,Yoto Yotov,I. Tzvetkov,Robert A. Hegele,Daniel Gaudet,L. Brunham,Isabelle Ruel,Brian McCrindle,Ada Cuevas,Dražen Perica,P. Symeonides,Efstratios Trogkanis,A. Kostis,Andreas Ioannou,Angeliki Mouzarou,Anthoula Georgiou,Andreas Stylianou,G. Miltiadous,Paris Iacovides,Constantinos Deltas,Michal Vrablík,Zuzana Urbanová,Pavel Ješina,Lukáš Tichý,Josef Hyánek,Jana Dvorakova,Jana Cepova,Josef Sykora,Kristýna Burešová,Michal Pipek,Eva Pistkova,Ivana Bartkova,A. Šuláková,L. Ťoukálková,M. Spenerova,Jan Maly,Marianne Benn,Ahmed Bendary,Atef Elbahry,Jean Ferrières,Dorota Ferrieres,Noël Peretti,E. Bruckert,Antonio Gallo,René Valéro,F. Mourre,Karine Aouchiche,Rachel Reynaud,Patrick Tounian,Julie Lemale,Franck Boccara,Philippe Moulin,S. Charrières,Mathilde Di Filippo,Bertrand Cariou,François Paillard,C. Dourmap,A. Pradignac,Bruno Vergès,Isabelle Simoneau,Michel Farnier,Yves Cottin,Cecile Yelnik,Regis Hankard,F. Schiele,Vincent Durlach,Ariane Sultan,Alain Carrié,Jean-Pierre Rabès,Veronika Sanin,Roland Schmieder,Sara Ates,Christos V. Rizos,Ioannis Skoumas,Konstantinos Tziomalos,Loukianos S. Rallidis,Vasileios Kotsis,Michalis Doumas,Emmanouil Skalidis,Genovefa Kolovou,Vana Kolovou,Anastasia Garoufi,Iosif Koutagiar,Georgios Polychronopoulos,E. Kiouri,Christina Antza,Evangelos A. Zacharis,Achilleas Attilakos,G. Sfikas,Charalambos Koumaras,Panagiotis Anagnostis,Georgia Anastasiou,George Liamis,Petros-Spyridon Adamidis,Haralampos J. Milionis,Vaia Lambadiari,Stella Stabouli,Theodosios D Filippatos,Vicky Mollaki,Anastasia Tsaroumi,Frida Lamari,Pavlos Proyias,Mariann Harangi,L. L. Reddy,Swarup A V Shah,C.K. Ponde,Jamshed J. Dalal,Jitendra P.S. Sawhney,Ishwar C. Verma,Susan Hosseini,Tannaz Jamialahmadi,Mohammed Alareedh,Foaad Shaghee,S. H. Rhadi,M. Abduljalal,Sarmad Alfil,Huda Kareem,Hofit Cohen,Eran Leitersdorf,Daniel Schurr,S. Shpitzen,Marcello Arca,Maurizio R Averna,S Bertolini,Sebastiano Calandra,Patrizia Tarugi,Manuela Casula,Federica Galimberti,Marta Gazzotti,E. Olmastroni,Riccardo Sarzani,C. Ferri,Elena Repetti,Francesco Giorgino,Patrizia Suppressa,A. Bossi,Claudio Borghi,Sandro Muntoni,Francesco Cipollone,Roberto Scicali,Arturo Pujia,Angelina Passaro,Martina Berteotti,Valerio Pecchioli,Livia Pisciotta,Giuseppe Mandraffino,Fabio Pellegatta,Giuliana Mombelli,A. Branchi,A. Fiorenza,Cristina Pederiva,José Pablo Werba,Gianfranco Parati,Fabio Nascimbeni,Lorenzo Iughetti,Giuliana Fortunato,Raimondo Cavallaro,Gabriella Iannuzzo,Paolo Calabrò,Angelo B. Cefalù,Maria Capra,Alberto Zambon,Matteo Pirro,Francesco Sbrana,Chiara Trenti,Ilenia Minicocci,Massimo Federici,Maria Del Ben,Paola Sabrina Buonuomo,Simona Moffa,A. Pípolo,Nadia Citroni,Ornella Guardamagna,Salvatore Lia,Andrea Benso,Gianni Biolo,Lorenzo Maroni,A. Lupi,Luca Bonanni,Elisabetta Rinaldi,M. G. Zenti,Daisaku Masuda,Linda Mahfouz,Selim Jambart,Carine Ayoub,Youmna Ghaleb,Noor Alicezah Mohd Kasim,Noor Shafina Mohd Nor,Alyaa Al-Khateeb,Siti Hamimah Sheikh Abdul Kadir,Y.A. Chua,A.Z. Razman,S.A. Nazli,Norashikin Mohd Ranai,Ahmad Zubaidi Abd Latif,María Teresa Magaña Torres,Roopa Mehta,Alexandro J. Martagón,Gabriela A. Galan Ramirez,Neftali Eduardo Antonio-Villa,Arsenio Vargas-Vázquez,Daniel Elías-López,G. G. Retana,Bethsabel Rodríguez Encinas,J. J. C. Macias,A. R. Zazueta,Rocio Martinez Alvarado,Julieta Danira Morales Portano,Humberto Alvares Lopez,Leobardo Sauque-Reyna,L. G. Herrera,L. E. Mendia,H. G. Aguilar,E. R. Cooremans,B. P. Aparicio,V. M. Zubieta,Perla Gonzalez,Aldo Ferreira-Hermosillo,N. C. Portilla,Guadalupe Jimenez Dominguez,Alinna Y. Ruiz Garcia,H. E. Cazares,Jesus R. Gonzalez Gonzalez,C. V. Valencia,Francisco G. Padilla Padilla,Ramon Madriz Prado,Manuel O. De los Rios Ibarra,R. A. Villicaña,Karina J. Acevedo Rivera,Ricardo Allende Carrera,Jose A. Alvarez,Jose C. Amezcua Martinez,M. Bustillo,G. C. Vargas,R. C. Chacon,M. H. Andrade,A. F. Ortega,H. G. Alcalá,L. E. D. Leon,B. G. Guzman,J. J. Garcia,Juan C. Garnica Cuellar,Jose R. Gomez Cruz,Anell Hernandez Garcia,J. R. Almada,Ursulo Juárez Herrera,F. L. Sobrevilla,Eduardo Marquez Rodriguez,C. M. Sibaja,Alma B. Medrano Rodriguez,J. C. Oyervides,D. I. Vazquez,Eduardo A. Reyes Rodriguez,Ma. Ludivina Robles Osorio,Juan Rosas Saucedo,M. T. Tamayo,L. A. Talavera,L. E. Arroyo,E. Carrillo,Annette M.H. Galema-Boers,Albert Weigman,Martin Prøven Bogsrud,M. Malik,Saeedullah Shah,Sabeen Abid Khan,Muhammad Asim Rana,Hijab Batool,Ewa Starostecka,A. Konopka,Joanna Lewek,Agata Bielecka-Dabrowa,Agnieszka Gach,Jacek Jerzy Jozwiak,Marcin Pajkowski,Marzena Romanowska-Kocejko,Marta Żarczyńska-Buchowiecka,Marcin Hellman,Magdalena Chmara,Bartosz Wasag,A Parczewska,Natasza Gilis-Malinowska,Justyna Borowiec-Wolna,Aneta Strozyk,Aleksandra Michalska-Grzonkowska,Izabela Chlebus,Mariola Kleinschmidt,Agnieszka Wojtecka,Tomasz Zdrojewski,Małgorzata Myśliwiec,Matylda Hennig,Ana Margarida Medeiros,A. A. Alves,Ana Filipa Almeida,Andreia Lopes,A. Guerra,Carla Bilhoto,Fernando Simões,Francisco Silva,Goreti Lobarinhas,Guida Gama,Isabel Palma,José Miguel Salgado,Luísa Diogo Matos,Márcio de Moura,M. Virtuoso,Mónica Tavares,Patrícia Ferreira,Patrícia Pais,Paula Garcia,Raquel Coelho,Raquel Ribeiro,S. Correia,Dinara Sadykova,Evgenia Slastnikova,Dalal Alammari,Horia Ahmed Mawlawi,Atif Alsahari,Alia Abdullah Khudary,Nawal Lafi Alrowaily,N. Rajkovic,Ljiljana Popović,Sandra Singh,Iva Rasulić,Ana Petakov,Nebojsa Lalic,Fabian Kok Peng,Rashida Farhan Vasanwala,Sreedharan Aravind Venkatesh,Katarina Raslova,Ľ. Fábryová,Jan Nociar,Jana Saligová,Ľ. Potočňáková,Miriam Kozárová,Tibor Varga,Michaela Kadurová,Marianna Debreová,Peter Novodvorsky,Katarina Gonova,Alexander Klabnik,I. Bugáňová,Tadej Battelino,Barbara Bizjan,Maruša Debeljak,Jernej Kovač,M. Mlinaric,N. Molk,J. Sikonja,Ursa Sustar,Katarina Trebušak Podkrajšek,Ovidio Muñiz-Grijalvo,José Luis Díaz-Díaz,R. Andrés,Francisco Fuentes-Jiménez,Dirk J. Blom,E. Miserez,Janine L. Shipton,Poranee Ganokroj,Marta Futema,Uma Ramaswami,Rano B Alieva,K. Fozilov,Shavkat U. Khoshimov,Ulugbek I Nizamov,Guzal J Abdullaeva,Liliya E. Kan,Alisher A. Abdullaev,Daria V. Zakirova,Doan Loi Do,Mai-Ngoc Thi Nguyen,Ngoc Thanh Kim,Thanh Tung Le,Hong-An Le,R. Santos,Kausik K. Ray +484 more
TL;DR: Assessment of current identification and management of children and adolescents younger than 18 years with HeFH found increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life.
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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia
Jana Lisyová,Ján Chandoga,Petra Jungová,Marcel Repiský,Mária Knapková,Martina Machková,Svetozár Dluholucký,D. Behulova,Jana Saligová,Ľudmila Potočňáková,Miroslava Lysinová,Daniel Böhmer +11 more
TL;DR: A molecular genetic study on sixty-two patients with a pathological biochemical pattern related to short-chain acyl-CoA dehydrogenase deficiency discovered a high occurrence of two rare pathogenic variants, one of which appears with a high frequency in the Roma ethnic group of Slovakia.
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
Yutaka Toyoda,Sung Kweon Cho,Velibor Tasic,Katerina Pavelcova,Jana Bohatá,Hiroshi Suzuki,Victor A. David,Jaeho Yoon,Anna Pallaiova,Jana Saligová,Darryl Nousome,Raul E. Cachau,Cheryl Winkler,Tappei Takada,Blanka Stiburkova +14 more
TL;DR: In this article , a typical familial case of RHUC type 2 found in a Slovak family with severe hypouricemia and hyperuricosuria was described, and an intronic GLUT9 variant, c.1419+1G>A, was identified as the causal mutation that could lead the expression of p.Gly431GlufsTer28, a functionally-null variant resulting from exon 11 skipping.
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A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency
Sungkweon Cho,Guenter Schwarz,V. Tasic,Michaela Křížková,Jakub Krijt,Juliane Roeper,Tomas Honzik,Ivan Sebesta,Viktor Kožich,Jana Saligová,Katerina Pavelcova,Jana Mašínová,Cheryl A Winkler,Blanka Stiburkova +13 more
TL;DR: A novel ultra-rare MOCS2 variant, rs776441627, is associated with a mild form of molybdenum cofactor deficiency in five Roma patients, characterized by hypouricemia, xanthine/hypoxanthine accumulation, and asymptomatic or mild clinical course.
•Journal Article
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
TL;DR: The mutational spectrum in Gaucher disease patients is similar to that observed in other European countries and corresponds to a Caucasian population, with N370S, L444P, RecNciI being the most common.