Počet záznamov: 1
Complex phenotypes blur conventional borders between Say - Barber - Biesecker - Young - Simpson syndrome and genitopatellar syndrome
Názov Complex phenotypes blur conventional borders between Say - Barber - Biesecker - Young - Simpson syndrome and genitopatellar syndrome Autor Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV Spoluautori Hýblová M. Ďurovčíková Darina Hikkelová M. Fiedler E. Kádaši Ľudevít 1952- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV ORCID Turna Ján Minárik G. Szemeš T. Zdroj.dok. Clinical genetics : An International Journal of Genetics and Molecular Medicine. Vol. 91, no. 2 (2017), p. 339-343 Jazyk dok. eng - angličtina Krajina DK - Dánsko URL URL link Druh dok. rozpis článkov z periodík (rbx) Ohlasy BASHIR, Rani A. - DIXIT, Abhijit - GOEDHART, Caitlin - PARBOOSINGH, Jillian S. - INNES, Allan M. - FERREIRA, Patrick - HASAN, Shabih U. - AU, Ping-Yee B. Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. In AMERICAN JOURNAL OF MEDICAL GENETICS PART A. ISSN 1552-4825, 2017, vol. 173, no. 10, pp. 2596-2604. NIIDA, Yo - MITANI, Yusuke - KURODA, Mondo - YOKOI, Ayano - NAKAGAWA, Hiroyasu - KATO, Akiko. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. In CONGENITAL ANOMALIES. ISSN 0914-3505, 2017, vol. 57, no. 3, pp. 86-88. VANLERBERGHE, C. - BOUTRY, N. - PETIT, F. Genetics of patella hypoplasia/agenesis. In CLINICAL GENETICS. ISSN 0009-9163, 2018, vol. 94, no. 1, pp. 43-53. MARANGI, Giuseppe - DI GIACOMO, Marilena C. - LATTANTE, Serena - ORTESCHI, Daniela - PATRIZI, Sara - DORONZIO, Paolo N. - RIVIELLO, Francesco N. - VAISFELD, Alessandro - FRANGELLA, Silvia - ZOLLINO, Marcella. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. In AMERICAN JOURNAL OF MEDICAL GENETICS PART A. ISSN 1552-4825, 2018, vol. 176, no. 2, pp. 455-459. KIM, Byuh Ree - HAN, Jeong Ho - SHIN, Jeong Eun - PARK, Min Soo - PARK, Kook In - NAMGUNG, Ran - LEE, Hyun-Joo - LEE, Jin-Sung - EUN, Ho Sun. Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea. In YONSEI MEDICAL JOURNAL. ISSN 0513-5796, 2019, vol. 60, no. 4, pp. 395-398. LONARDO, F. - LONARDO, M. S. - ACQUAVIVA, F. - DELLA MONICA, M. - SCARANO, F. - SCARANO, G. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? In CLINICAL GENETICS. ISSN 0009-9163, 2019, vol. 95, no. 2, pp. 253-261. BREA-FERNANDEZ, Alejandro - DACRUZ, David - EIRIS, Jesus - BARROS, Francisco - CARRACEDO, Angel. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. In AMERICAN JOURNAL OF MEDICAL GENETICS PART A. ISSN 1552-4825, 2019, vol. 179, no. 2, pp. 290-294. SHEIKH, Bilal N. - AKHTAR, Asifa. The many lives of KATs detectors, integrators and modulators of the cellular environment. In NATURE REVIEWS GENETICS. ISSN 1471-0056, 2019, vol. 20, no. 1, pp. 7-23. WIESEL-MOTIUK, N. - ASSARAF, Y.G. The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology. In DRUG RESISTANCE UPDATES. ISSN 1368-7646, DEC 2020, vol. 53. MESEGUER, E.F. - CUESTA, A. - PINO, L. - CREHUA-GAUDIZA, E. - MIRAGALL, L. - PEDROSA, L. - VERDECIA, A. - MINGUEZ, M.F. A further patient with genitopatellar syndrome requiring multidisciplinary management. In CLINICAL DYSMORPHOLOGY. ISSN 0962-8827, OCT 2020, vol. 29, no. 4, p. 193-196. WU, Y.T. - ZHANG, H.Q. - TANG, M.X. - GUO, C.F. - DENG, A. - LI, J. - WANG, Y.J. - XIAO, L.G. - YANG, G.T. High methylation of lysine acetyltransferase 6B is associated with the Cobb angle in patients with congenital scoliosis. In JOURNAL OF TRANSLATIONAL MEDICINE. MAY 24 2020, vol. 18, no. 1. ZHANG, L. - LEMIRE, G. - GONZAGA-JAUREGUI, C. - MOLIDPEREE, S. - GALAZ-MONTOYA, C. - LIU, D.S. - VERLOES, A. - SHILLINGTON, A.G. - IZUMI, K. - RITTER, A.L. - KEENA, B. - ZACKAI, E. - LI, D. - BHOJ, E. - TARPINIAN, J.M. - BEDOUKIAN, E. - KUKOLICH, M.K. - INNES, A.M. - EDIAE, G.U. - SAWYER, S.L. - NAIR, K.M. - SOUMYA, P.C. - SUBBARAMAN, K.R. - PROBST, F.J. - BASSETTI, J.A. - SUTTON, R.V. - GIBBS, R.A. - BROWN, C. - BOONE, P.M. - HOLM, I.A. - TARTAGLIA, M. - FERRERO, G.B. - NICETA, M. - DENTICI, M.L. - RADIO, F.C. - KEREN, B. - WELLS, C.F. - COUBES, C. - LAQUERRIERE, A. - AZIZA, J. - DUBUCS, C. - NAMPOOTHIRI, S. - MOWAT, D. - PATEL, M.S. - BRACHO, A. - CAMMARATA-SCALISI, F. - GEZDIRICI, A. - FERNANDEZ-JAEN, A. - HAUSER, N. - ZARATE, Y.A. - BOSANKO, K.A. - DIETERICH, K. - CAREY, J.C. - CHONG, J.X. - NICKERSON, D.A. - BAMSHAD, M.J. - LEE, B.H. - YANG, X.J. - LUPSKI, J.R. - CAMPEAU, P.M. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. In GENETICS IN MEDICINE. ISSN 1098-3600, AUG 2020, vol. 22, no. 8, p. 1338-1347. ZHU, L.Y. - LV, L.N. - WU, D.W. - SHAO, J. KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders. In FRONTIERS IN PEDIATRICS. ISSN 2296-2360, APR 23 2020, vol. 8. MENDEZ, R. - DELEA, M. - DAIN, L. - RITTLER, M. A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. In CLINICAL DYSMORPHOLOGY. ISSN 0962-8827, JAN 2020, vol. 29, no. 1, p. 42-45. WILSON, K.D. - PORTER, E.G. - GARCIA, B.A. Reprogramming of the epigenome in neurodevelopmental disorders. In CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY. ISSN 1040-9238, JAN 2 2022, vol. 57, no. 1, p. 73-112. TURKYILMAZ, A. - OZDEN, A. A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype. In CLINICAL DYSMORPHOLOGY. ISSN 0962-8827, OCT 2021, vol. 30, no. 4, p. 197-200. FALLAH, M.S. - SZARICS, D. - ROBSON, C.M. - EUBANKS, J.H. Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders. In FRONTIERS IN GENETICS. JAN 8 2021, vol. 11. YANG, Y. - ZHANG, H.M. - HUANG, H. Clinical features and the genetic analysis of KAT6B-related diseases caused by a ide novo/i mutation of the KAT6B gene c.621+1G>A. In ASIAN JOURNAL OF SURGERY. ISSN 1015-9584, FEB 2022, vol. 45, no. 2, p. 792-794. Dostupné na: https://doi.org/10.1016/j.asjsur.2021.12.028. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2017 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1111/cge.12840 
článok
Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Complex phenotypes blur conventional borders between.pdf Prístupný 596 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) 2017 2016 3.326 Q2 1.582 Q2
Počet záznamov: 1