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Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa
Názov Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa Autor Škopková Martina SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV SCOPUS RID ORCID Spoluautori Čiljaková Miriam Havlíčeková Zuzana Vojtková Jarmila Valentínová Lucia SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV Daniš Daniel 1989 SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV Murgaš Dalibor Szépeová Renáta Staník Juraj SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV Bánovčin P Klimeš Iwar SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV Gašperíková Daniela SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV SCOPUS RID ORCID Zdroj.dok. European Journal of Medical Genetics. Vol. 59, no. 9 (2016), p. 429-435 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy PATEL, Kashyap A. - KETTUNEN, Jarno - LAAKSO, Markku - STANCAKOVA, Alena - LAVER, Thomas W. - COLCLOUGH, Kevin - JOHNSON, Matthew B. - ABRAMOWICZ, Marc - GROOP, Leif - MIETTINEN, Paivi J. - SHEPHERD, Maggie H. - FLANAGAN, Sarah E. - ELLARD, Sian - INAGAKI, Nobuya - HATTERSLEY, Andrew T. - TUOMI, Tiinamaija - CNOP, Miriam - WEEDON, Michael N. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. In NATURE COMMUNICATIONS. ISSN 2041-1723, 2017, vol. 8. ZHANG, Yinhong - YANG, Bicheng - TANG, Xinhua - CHEN, Shu - YU, Rui - HE, Jing - SU, Jie - ZHU, Shu - ZHU, Baosheng. Genetic analysis and prenatal diagnosis for a pregnant woman with an unbalanced t(1;2), t(6;7) translocation and intellectual disability. In Chinese Journal of Medical Genetics. ISSN 10039406, 2017-08-01, 34, 4, pp. 583-587. PICCAND, Julie - VAGNE, Constance - BLOT, Florence - MEUNIER, Aline - BEUCHER, Anthony - STRASSER, Perrine - LUND, Mari L. - GHIMIRE, Sabitri - NIVLET, Laure - LAPP, Celine - PETERSEN, Natalia - ENGELSTOFT, Maja S. - THIBAULT-CARPENTIER, Christelle - KEIME, Celine - CORREA, Sara Jimenez - SCHREIBER, Valerie - MOLINA, Nacho - SCHWARTZ, Thue W. - DE ARCANGELIS, Adele - GRADWOHL, Gerard. Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production. In MOLECULAR METABOLISM. ISSN 2212-8778, 2019, vol. 29, no., pp. 24-39. KAMBAL, Mohammed Abdulmageed - AL-HARBIN, Doha Ayed - AL-SUNAID, Areej Rashed - AL-ATAWI, Mohsen Suliaman. Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. In FRONTIERS IN PEDIATRICS. ISSN 2296-2360, 2019, vol. 7, no., pp. PARKER, Olivia M. - KENWRIGHT, Diane - STRINGER, Mark D. Heterotopic gastric mucosa associated with jejunal atresia. In JOURNAL OF PEDIATRIC SURGERY CASE REPORTS. ISSN 2213-5766, 2019, vol. 43, no., pp. 58-61. CALCATERRA, V. - CHIRICOSTA, L. - MAZZON, E. - GUGNANDOLO, A. - ALBERTI, D. - MAESTRI, L. - MERONI, M. - VESTRI, E. - VERDUCI, E. - DILILLO, D. - ZUCCOTTI, G. - PELIZZO, G. Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report. In ORPHANET JOURNAL OF RARE DISEASES. OCT 29 2021, vol. 16, no. 1. Dostupné na: https://doi.org/10.1186/s13023-021-02093-9. DE FRANCO, E. Neonatal diabetes caused by disrupted pancreatic and beta-cell development. In DIABETIC MEDICINE. ISSN 0742-3071, DEC 2021, vol. 38, no. 12, SI. Dostupné na: https://doi.org/10.1111/dme.14728. PASSONE, C.D.B. - VERMILLAC, G. - STAELS, W. - BESANCON, A. - KARIYAWASAM, D. - GODOT, C. - LAMBE, C. - TALBOTEC, C. - GIRARD, M. - CHARDOT, C. - BERTELOOT, L. - HACHEM, T. - LAPILLONNE, A. - POIDVIN, A. - STOREY, C. - NEVE, M. - STAN, C. - DUGELAY, E. - FAURET-AMSELLEM, A.L. - CAPRI, Y. - CAVE, H. - YBARRA, M. - CHANDRA, V. - SCHARFMANN, R. - BISMUTH, E. - POLAK, M. - CAREL, J.C. - PIGNEUR, B. - BELTRAND, J. Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations. In FRONTIERS IN ENDOCRINOLOGY. ISSN 1664-2392, JUN 22 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fendo.2022.802351. ESTEFANíA-FERNáNDEZ, K. - ANDRéS, A. - ALCOLEA, A. - VELAYOS-LóPEZ, M. - PASTRíAN, L.G. - RAMíREZ-AMORóS, C. - GONZALEZ, R. - SARRíA, M. - RAMOS, E. - LóPEZ-SANTAMARIA, M. - HERNáNDEZ, F. First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome. In PEDIATRIC TRANSPLANTATION. ISSN 1397-3142, AUG 2022, vol. 26, no. 5. Dostupné na: https://doi.org/10.1111/petr.14270. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2016 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.ejmg.2016.08.005 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.pdf Neprístupný/archív 547.1 KB 1 Vydavateľská verzia rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2016 2015 1.810 Q3 0.928 Q1
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