Search Results - "Melegh, Béla"

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

“…Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern…”
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Genome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty by Wang, Chuan-Chao, Posth, Cosimo, Furtwängler, Anja, Sümegi, Katalin, Bánfai, Zsolt, Kásler, Miklós, Krause, Johannes, Melegh, Béla

“…The ancient Hungarians, “Madzsars”, established their control of the Carpathian Basin in the late ninth century and founded the Hungarian Kingdom around…”
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Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis by Bánfai, Zsolt, Büki, Gergely, Ádám, Valerián, Sümegi, Katalin, Szabó, András, Hadzsiev, Kinga, Erős, Krisztián, Gallyas, Ferenc, Miseta, Attila, Kásler, Miklós, Melegh, Béla

“…Background The Csangos are an East-Central European ethnographic group living mainly in east of Transylvania in Romania. Traditionally, ethnography…”
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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice by Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio

“…Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful…”
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Characterization of Danube Swabian population samples on a high-resolution genome-wide basis by Bánfai, Zsolt, Kövesdi, Erzsébet, Sümegi, Katalin, Büki, Gergely, Szabó, András, Magyari, Lili, Ádám, Valerián, Pálos, Ferenc, Miseta, Attila, Kásler, Miklós, Melegh, Béla

“…Background German-derived ethnicities are one of the largest ethnic groups in Hungary, dating back to the formation of the Kingdom of Hungary, which took place…”
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Author Correction: Genome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty by Wang, Chuan‑Chao, Posth, Cosimo, Furtwängler, Anja, Sümegi, Katalin, Bánfai, Zsolt, Kásler, Miklós, Krause, Johannes, Melegh, Béla

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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy by Alonso-Pérez, Jorge, González-Quereda, Lidia, Bruno, Claudio, Panicucci, Chiara, Alavi, Afagh, Nafissi, Shahriar, Nilipour, Yalda, Zanoteli, Edmar, Isihi, Lucas Michielon de Augusto, Melegh, Béla, Hadzsiev, Kinga, Muelas, Nuria, Vílchez, Juan J, Dourado, Mario Emilio, Kadem, Naz, Kutluk, Gultekin, Umair, Muhammad, Younus, Muhammad, Pegorano, Elena, Bello, Luca, Crawford, Thomas O, Suárez-Calvet, Xavier, Töpf, Ana, Guglieri, Michela, Marini-Bettolo, Chiara, Gallano, Pia, Straub, Volker, Díaz-Manera, Jordi

“…Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused,…”
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Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' by Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio

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

“…Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in NF1…”
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Genome-Wide Marker Data-Based Comparative Population Analysis of Szeklers From Korond, Transylvania, and From Transylvania Living Non-Szekler Hungarians by Ádám, Valerián, Bánfai, Zsolt, Sümegi, Katalin, Büki, Gergely, Szabó, András, Magyari, Lili, Miseta, Attila, Kásler, Miklós, Melegh, Béla

“…Genome-wide genotype data from 48 carefully selected population samples of Transylvania-living Szeklers and non-Szekler Hungarians were analyzed by comparative…”
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Genetic Structure of Europeans: A View from the North–East by Nelis, Mari, Esko, Tõnu, Mägi, Reedik, Zimprich, Fritz, Zimprich, Alexander, Toncheva, Draga, Karachanak, Sena, Piskáčková, Tereza, Balaščák, Ivan, Peltonen, Leena, Jakkula, Eveliina, Rehnström, Karola, Lathrop, Mark, Heath, Simon, Galan, Pilar, Schreiber, Stefan, Meitinger, Thomas, Pfeufer, Arne, Wichmann, H-Erich, Melegh, Béla, Polgár, Noémi, Toniolo, Daniela, Gasparini, Paolo, D'Adamo, Pio, Klovins, Janis, Nikitina-Zake, Liene, Kučinskas, Vaidutis, Kasnauskienė, Jūratė, Lubinski, Jan, Debniak, Tadeusz, Limborska, Svetlana, Khrunin, Andrey, Estivill, Xavier, Rabionet, Raquel, Marsal, Sara, Julià, Antonio, Antonarakis, Stylianos E., Deutsch, Samuel, Borel, Christelle, Attar, Homa, Gagnebin, Maryline, Macek, Milan, Krawczak, Michael, Remm, Maido, Metspalu, Andres

“…Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single…”
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Molecular analysis of the VP7 gene of pheasant rotaviruses identifies a new genotype, designated G23 by Ursu, Krisztina, Kisfali, Péter, Rigó, Dóra, Ivanics, Éva, Erdélyi, Károly, Dán, Ádám, Melegh, Béla, Martella, Vito, Bányai, Krisztián

“…Rotavirus-associated enteritis has been reported in pheasants, but there is no information on the genetic/antigenic features of pheasant rotaviruses. In this…”
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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International by Taruscio, Domenica, Salvatore, Marco, Lumaka, Aimè, Carta, Claudio, Cellai, Laura L., Ferrari, Gianluca, Sciascia, Savino, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, Cutiongco-de la Paz, Eva Maria, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Puri, Ratna Dua, Romero, Vanessa, Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Roccatello, Dario, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel

“…Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to…”
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Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' by Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio

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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions by Baldovino, Simone, Sciascia, Savino, Carta, Claudio, Salvatore, Marco, Cellai, Laura L., Ferrari, Gianluca, Lumaka, Aimé, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, la Paz, Eva Maria Cutiongco-de, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Pagava, Karaman, Puri, Ratna Dua, Romero, Vaness I., Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Roccatello, Dario, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel, Taruscio, Domenica

“…Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique…”
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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators by Sciascia, Savino, Roccatello, Dario, Salvatore, Marco, Carta, Claudio, Cellai, Laura L., Ferrari, Gianluca, Lumaka, Aimè, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, Cutiongco-de la Paz, Eva Maria, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Puri, Ratna Dua, Romero, Vanessa I., Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel, Taruscio, Domenica

“…Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications,…”
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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice by Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio

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MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin by Mašindová, Ivica, Šoltýsová, Andrea, Varga, Lukáš, Mátyás, Petra, Ficek, Andrej, Hučková, Miloslava, Sůrová, Martina, Šafka-Brožková, Dana, Anwar, Saima, Bene, Judit, Straka, Slavomír, Janicsek, Ingrid, Ahmed, Zubair M., Seeman, Pavel, Melegh, Béla, Profant, Milan, Klimeš, Iwar, Riazuddin, Saima, Kádasi, Ľudevít, Gašperíková, Daniela

“…In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia…”
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Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report by Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla

“…Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage…”
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Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients by Csöngei, Veronika, Járomi, Luca, Sáfrány, Eniko, Sipeky, Csilla, Magyari, Lili, Faragó, Bernadett, Bene, Judit, Polgár, Noémi, Lakner, Lilla, Sarlós, Patrícia, Varga, Márta, Melegh, Béla

“…To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autophagy-related 16-like 1 (ATG16L1) (rs2241880), caspase…”
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