MITF regulates IDH1, NNT, and a transcriptional program protecting melanoma from reactive oxygen species von Roider, Elisabeth, Lakatos, Alexandra I. T., McConnell, Alicia M., Wang, Poguang, Mueller, Alina, Kawakami, Akinori, Tsoi, Jennifer, Szabolcs, Botond L., Ascsillán, Anna A., Suita, Yusuke, Igras, Vivien, Lo, Jennifer A., Hsiao, Jennifer J., Lapides, Rebecca, Pál, Dorottya M. P., Lengyel, Anna S., Navarini, Alexander, Okazaki, Arimichi, Iliopoulos, Othon, Németh, István, Graeber, Thomas G., Zon, Leonard, Giese, Roger W., Kemeny, Lajos V., Fisher, David E.

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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood von Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren

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What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature von Pinti, Eva, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren

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Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations von Lengvári, Lilla, Takács, Kata, Lengyel, Anna, Pálinkás, Annamária, Wouters, Carine Helena, Koné-Paut, Isabelle, Kuemmerle-Deschner, Jasmin, Jeyaratnam, Jerold, Anton, Jordi, Lachmann, Helen Jane, Gattorno, Marco, Hofer, Michael, Toplak, Nataša, Weiser, Peter, Kallinich, Tilmann, Ozen, Seza, Hentgen, Véronique, Uziel, Yosef, Horváth, Zsuzsanna, Szabados, Márton, Brogan, Paul, Constantin, Tamás, Frenkel, Joost

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Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts von Szadai, Leticia, Bartha, Aron, Parada, Indira Pla, Lakatos, Alexandra I T, Pál, Dorottya M P, Lengyel, Anna Sára, de Almeida, Natália Pinto, Jánosi, Ágnes Judit, Nogueira, Fábio, Szeitz, Beata, Doma, Viktória, Woldmar, Nicole, Guedes, Jéssica, Ujfaludi, Zsuzsanna, Pahi, Zoltán Gábor, Pankotai, Tibor, Kim, Yonghyo, Győrffy, Balázs, Baldetorp, Bo, Welinder, Charlotte, Szasz, A Marcell, Betancourt, Lazaro, Gil, Jeovanis, Appelqvist, Roger, Kwon, Ho Jeong, Kárpáti, Sarolta, Kuras, Magdalena, Murillo, Jimmy Rodriguez, Németh, István Balázs, Malm, Johan, Fenyö, David, Pawłowski, Krzysztof, Horvatovich, Peter, Wieslander, Elisabet, Kemény, Lajos V, Domont, Gilberto, Marko-Varga, György, Sanchez, Aniel

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Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes von Baba, Naomi, Lengyel, Anna, Pinti, Eva, Yapici, Elzem, Schreyer, Isolde, Liehr, Thomas, Fekete, György, Eggermann, Thomas

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Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort von Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén

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A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging von Anker, Pálma, Fésűs, Luca, Kiss, Norbert, Lengyel, Anna, Pinti, Éva, Lihacova, Ilze, Lihachev, Alexey, Plorina, Emilija Vija, Fekete, György, Medvecz, Márta

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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum von den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van

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1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients von Balogh, Istvan, Szabo, Tamas, Reusz, Gyorgy, Mikes, Balint, Koczok, Katalin, Madar, Laszlo, Nagy, Orsolya, Till, Agnes, Meichelbeck, Krisztina, Pfliegler, Gyorgy, Szabo, Andras, Lengyel, Anna

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Safety and Efficacy Analysis of Targeted and Immune Combination Therapy in Advanced Melanoma—A Systematic Review and Network Meta-Analysis von Lengyel, Anna Sára, Fanni Adél Meznerics, Galajda, Noémi Ágnes, Gede, Noémi, Kói, Tamás, Alzahra Ahmed Mohammed, Péter, Petra Nikolett, Lakatos, Alexandra IT, Krebs, Máté, Csupor, Dezső, Bánvölgyi, András, Hegyi, Péter, Holló, Péter, Kemény, Lajos V

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Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family von Pinti, Eva, Piko, Henriett, Lengyel, Anna, Luczay, Andrea, Karcagi, Veronika, Fekete, Gyorgy, Haltrich, Iren

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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome von Lengyel, Anna, Pinti, Éva, Eggermann, Thomas, Fekete, György, Haltrich, Irén

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Additional file 3 of Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort von Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén

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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome von Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias

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Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study von den Hollander, Bibiche, Brands, Marion M, de Boer, Lonneke, Haaxma, Charlotte A, Lengyel, Anna, van Essen, Peter, Peters, Gera, Kwast, Hanneke J T, Klein, Willemijn M, Coene, Karlien L M, Lefeber, Dirk J, van Karnebeek, Clara D M

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Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study von Kessler, Luise, Krause, Jeremias, Kraft, Florian, Amin, Asmaa K, Fekete, Gyorgy, Lengyel, Anna, Pinti, Eva, Kovacs, Arpad, Lischka, Annette, Eggermann, Katja, Kurth, Ingo, Knopp, Cordula, Elbracht, Miriam, Begemann, Matthias, Eggermann, Thomas

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature von Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén

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Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement von Lengyel, Anna, Pinti, Éva, Nebral, Karin, Pikó, Henriett, Ujfalusi, Anikó, Haas, Oskar A., Fekete, György, Haltrich, Irén

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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum von den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M

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