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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis
Názov Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis Autor Beer N. L. Spoluautori Osbak K.K. Van de Bunt M. Tribble N. D. Steel A.M. Wensley K.J. Edghill E. L. Colcough K. Barrett Anthony A. Valentínová Lucia SAVEXEND - Ústav experimentálnej endokrinológie SAV Rundle J.B. Raimondo A. Grimsby J. Ellard S. Gloyn A. L. Zdroj.dok. Diabetes Care. Vol. 35, no. 7 (2012), p. 1482-1484 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy MARULLO, Letizia - MOUSTAFA, Julia S. El-Sayed - PROKOPENKO, Inga. Insights into the Genetic Susceptibility to Type 2 Diabetes from Genome-Wide Association Studies of Glycaemic Traits. In CURRENT DIABETES REPORTS. ISSN 1534-4827, 2014, vol. 14, no. 11. SZOPA, Magdalena - LUDWIG-GALEZOWSKA, Agnieszka - RADKOWSKI, Piotr - SKUPIEN, Jan - ZAPALA, Barbara - PLATEK, Teresa - KLUPA, Tomasz - KIEC-WILK, Beata - BOROWIEC, Maciej - MLYNARSKI, Wojciech - WOLKOW, Pawel - MALECKI, Maciej T. Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young. In POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. ISSN 0032-3772, 2015, vol. 125, no. 11, pp. 845-851. CARMODY, David - NAYLOR, Rochelle N. - BELL, Charles D. - BERRY, Shivani - MONTGOMERY, Jazzmyne T. - TADIE, Elizabeth C. - HWANG, Jessica L. - GREELEY, Siri Atma W. - PHILIPSON, Louis H. GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. In ACTA DIABETOLOGICA. ISSN 0940-5429, 2016, vol. 53, no. 5, pp. 703-708. JOHANSSON, Bente B. - IRGENS, Henrik U. - MOLNES, Janne - SZTROMWASSER, Pawel - AUKRUST, Ingvild - JULIUSSON, Petur B. - SOVIK, Oddmund - LEVY, Shawn - SKRIVARHAUG, Torild - JONER, Geir - MOLVEN, Anders - JOHANSSON, Stefan - NJOLSTAD, Pal R. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. In DIABETOLOGIA. ISSN 0012-186X, 2017, vol. 60, no. 4, pp. 625-635. SIMCIKOVA, Daniela - KOCKOVA, Lucie - VACKAROVA, Katerina - TESINSKY, Miroslav - HENEBERG, Petr. Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2017, vol. 7. RAIMONDI, Daniele - ORLANDO, Gabriele - TABARO, Francesco - LENAERTS, Tom - ROOMAN, Marianne - MOREAU, Yves - VRANKEN, Wim F. Large-scale in-silico statistical mutagenesis analysis sheds light on the deleteriousness landscape of the human proteome. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2018, vol. 8, no., pp. KOMAZEC, Jovana - ZDRAVKOVIC, Vera - SAJIC, Silvija - JESIC, Maja - ANDJELKOVIC, Marina - PAVLOVIC, Sonja - UGRIN, Milena. The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young. In ENDOKRYNOLOGIA POLSKA. ISSN 0423-104X, 2019, vol. 70, no. 1, pp. 28-36. ALKATTAN, A. - ALKHALIFAH, A. - ALSALAMEEN, E. - ALGHANIM, F. - RADWAN, N. Polymorphisms of genes related to phase II metabolism and resistance to clopidogrel. In PHARMACOGENOMICS. ISSN 1462-2416, NOV 2021, vol. 23, no. 1, p. 61-79. GAAL, Z. - SZUCS, Z. - KANTOR, I. - LUCZAY, A. - TOTH-HEYN, P. - BENN, O. - FELSZEGHY, E. - KARADI, Z. - MADAR, L. - BALOGH, I. A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. In LIFE-BASEL. AUG 2021, vol. 11, no. 8. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2012 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.2337/dc11-2420 
článok
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) 2012 2011 8.087 Q1 4.796 Q1
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