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Clustering of mutations in the 5 tertile of the NF1 gene in Slovakia patients with optic pathway glioma.
Title Clustering of mutations in the 5 tertile of the NF1 gene in Slovakia patients with optic pathway glioma. Author Bolčeková Anna Co-authors Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Another authors Zaťková Andrea 1971- (Author) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Hlinková K. (Author) Pozgayová S. (Author) Hlavatá A. (Author) Kádaši Ľudevít 1952- (Author) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Ďurovčíková Darina (Author) Gerinec A (Author) Husáková K (Author) Pavlovičová Z. (Author) Holobrada M. (Author) Kovács László (Author) Ilenčíková Denisa (Author) Source document Neoplasma. Vol. 60, no.6 (2013), p. 655-665 Language eng - English Note ITMS 26240220058, ITMS 26240220071, VEGA 2/0104/10, KEGA 003UK-4/2012 Document kind rozpis článkov z periodík (rbx) Citations GUTMANN, David H. Eliminating barriers to personalized medicine Learning from neurofibromatosis type 1. In NEUROLOGY. ISSN 0028-3878, 2014, vol. 83, no. 5, pp. 463. ABADIN, Salmafatima S. - ZOELLNER, Nancy L. - SCHAEFFER, Melody - PORCELLI, Bree - GUTMANN, David H. - JOHNSON, Kimberly J. Racial/Ethnic Differences in Pediatric Brain Tumor Diagnoses in Patients with Neurofibromatosis Type 1. In JOURNAL OF PEDIATRICS. ISSN 0022-3476, 2015, vol. 167, no. 3, pp. 613. COLLINS, V. Peter - JONES, David T. W. - GIANNINI, Caterina. Pilocytic astrocytoma: pathology, molecular mechanisms and markers. In ACTA NEUROPATHOLOGICA. ISSN 0001-6322, 2015, vol. 129, no. 6, pp. 775. SHOFTY, Ben - CONSTANTINI, Shlomi - BEN-SHACHAR, Shay. Advances in Molecular Diagnosis of Neurofibromatosis Type 1. In SEMINARS IN PEDIATRIC NEUROLOGY. ISSN 1071-9091, 2015, vol. 22, no. 4, pp. 234. BERNIER, Anne - LARBRISSEAU, Albert - PERREAULT, Sebastien. Cafe-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature. In PEDIATRIC NEUROLOGY. ISSN 0887-8994, 2016, vol. 60, no., pp. 24-29. GUTMANN, David H. Exploring the genetic basis for clinical variation in neurofibromatosis type 1. In EXPERT REVIEW OF NEUROTHERAPEUTICS. ISSN 1473-7175, 2016, vol. 16, no. 9, pp. 999-1001. HUTTER, Sonja - PIRO, Rosario M. - WASZAK, Sebastian M. - KEHRER-SAWATZKI, Hildegard - FRIEDRICH, Reinhard E. - LASSALETTA, Alvaro - WITT, Olaf - KORBEL, Jan O. - LICHTER, Peter - SCHUHMANN, Martin U. - PFISTER, Stefan M. - TABORI, Uri - MAUTNER, Victor F. - JONES, David T. W. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. In HUMAN GENETICS. ISSN 0340-6717, 2016, vol. 135, no. 5, pp. 469-475. JOHNSON, Kimberly J. - ZOELLNER, Nancy L. - GUTMANN, David H. Peri-gestational risk factors for pediatric brain tumors in Neurofibromatosis Type 1. In CANCER EPIDEMIOLOGY. ISSN 1877-7821, 2016, vol. 42, no., pp. 53-59. PORCELLI, Bree - ZOELLNER, Nancy L. - ABADIN, Salmafatima S. - GUTMANN, David H. - JOHNSON, Kimberly J. Associations between allergic conditions and pediatric brain tumors in Neurofibromatosis type 1. In FAMILIAL CANCER. ISSN 1389-9600, 2016, vol. 15, no. 2, pp. 301-308. TOONEN, Joseph A. - ANASTASAKI, Corina - SMITHSON, Laura J. - GIANINO, Scott M. - LI, Kairong - KESTERSON, Robert A. - GUTMANN, David H. NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, 2016, vol. 25, no. 9, pp. 1703-1713. ANASTASAKI, Corina - MORRIS, Stephanie M. - GAO, Feng - GUTMANN, David H. Children with 5 '-end &ITNF1&IT gene mutations are more likely to have glioma. In NEUROLOGY-GENETICS. ISSN 2376-7839, 2017, vol. 3, no. 5, pp. MONROE, Courtney L. - DAHIYA, Sonika - GUTMANN, David H. Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1. In ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 12. ISSN 1553-4006, 2017, vol. 12, no., pp. 53-74. XU, Min - XIONG, Hui - HAN, Yanfang - LI, Chijun - MAI, Shaozhen - HUANG, Zhongzhou - AI, Xuechen - GUO, Zhixuan - ZENG, Fanqin - GUO, Qing. Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. In FRONTIERS IN GENETICS. ISSN 1664-8021, 2018, vol. 9, no., pp. CAMPEN, Cynthia J. - GUTMANN, David H. Optic Pathway Gliomas in Neurofibromatosis Type 1. In JOURNAL OF CHILD NEUROLOGY. ISSN 0883-0738, 2018, vol. 33, no. 1, pp. 73-81. MELLONI, Giulia - EOLI, Marica - CESARETTI, Claudia - BIANCHESSI, Donatella - IBBA, Maria Cristina - ESPOSITO, Silvia - SCUVERA, Giulietta - MORCALDI, Guido - MICHELI, Roberto - PIOZZI, Elena - AVIGNONE, Sabrina - CHIAPPARINI, Luisa - PANTALEONI, Chiara - NATACCI, Federica - FINOCCHIARO, Gaetano - SALETTI, Veronica. Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in a Large Independent Cohort. In CANCERS, 2019, vol. 11, no. 12, pp. CASSINA, Matteo - FRIZZIERO, Luisa - OPOCHER, Enrico - PARROZZANI, Raffaele - SORRENTINO, Ugo - VISCARDI, Elisabetta - MIGLIONICO, Giacomo - MIDENA, Edoardo - CLEMENTI, Maurizio - TREVISSON, Eva. Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations. In CANCERS, 2019, vol. 11, no. 11, pp. MUSKENS, Ivo S. - ZHANG, Chenan - DE SMITH, Adam J. - BIEGEL, Jaclyn A. - WALSH, Kyle M. - WIEMELS, Joseph L. Germline genetic landscape of pediatric central nervous system tumors. In NEURO-ONCOLOGY. ISSN 1522-8517, 2019, vol. 21, no. 11, pp. 1376-1388. EOLI, Marica - SALETTI, Veronica - FINOCCHIARO, Gaetano. Neurological malignancies in neurofibromatosis type 1. In CURRENT OPINION IN ONCOLOGY. ISSN 1040-8746, 2019, vol. 31, no. 6, pp. 554-561. LOBBOUS, Mina - BERNSTOCK, Joshua D. - COFFEE, Elizabeth - FRIEDMAN, Gregory K. - METROCK, Laura K. - CHAGOYA, Gustavo - ELSAYED, Galal - NAKANO, Ichiro - HACKNEY, James R. - KORF, Bruce R. - NABORS, Louis B. An Update on Neurofibromatosis Type 1-Associated Gliomas. In CANCERS, 2020, vol. 12, no. 1, pp. Dostupné na: https://doi.org/10.3390/cancers12010114. ANASTASAKI, Corina - WEGSCHEID, Michelle L. - HARTIGAN, Kelly - PAPKE, Jason B. - KOPP, Nathan D. - CHEN, Jiayang - COBB, Olivia - DOUGHERTY, Joseph D. - GUTMANN, David H. Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations. In STEM CELL REPORTS. ISSN 2213-6711, 2020, vol. 14, no. 4, pp. 541-550. Dostupné na: https://doi.org/10.1016/j.stemcr.2020.03.007. COLE, Jordan J. - FERNER, Rosalie E. - GUTMANN, David H. Neurofibromatosis type 1. In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2, 2020-01-01, pp. 185-200. Dostupné na: https://doi.org/10.1016/B978-0-12-813866-3.00012-6. COSTA, Amanda De Andrade - GUTMANN, David H. Brain tumors in neurofibromatosis type 1. In Neuro-Oncology Advances, 2020-07-01, 2, pp. I85-I97. Dostupné na: https://doi.org/10.1093/noajnl/vdz040. BROSSIER, Nicole M. - THONDAPU, Sharanya - COBB, Olivia M. - DAHIYA, Sonika - GUTMANN, David H. Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma. In NEURO-ONCOLOGY. ISSN 1522-8517, 2021, vol. 23, no. 4, pp. 625-637. Dostupné na: https://doi.org/10.1093/neuonc/noaa237. WANG, Wei - WEI, Cheng-Jiang - CUI, Xi-Wei - LI, Yue-Hua - GU, Yi-Hui - GU, Bin - LI, Qing-Feng - WANG, Zhi-Chao. Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1. In FRONTIERS IN NEUROLOGY. ISSN 1664-2295, 2021, vol. 12, no., pp. Dostupné na: https://doi.org/10.3389/fneur.2021.704639. MO, Juan - MOYE, Stefanie L. - MCKAY, Renee M. - LE, Lu Q. Neurofibromin and suppression of tumorigenesis: beyond the GAP. In ONCOGENE, 2022, vol. 41, no. 9, pp. 1235-1251. ISSN 0950-9232. Dostupné na: https://doi.org/10.1038/s41388-021-02156-y. FORDE, Claire - BURKITT-WRIGHT, Emma - TURNPENNY, Peter D. - HAAN, Eric - EALING, John - MANSOUR, Sahar - HOLDER, Muriel - LAHIRI, Nayana - DIXIT, Abhijit - PROCTER, Annie - PACOT, Laurence - VIDAUD, Dominique - CAPRI, Yline - GERARD, Marion - DOLLFUS, Helene - SCHAEFER, Elise - QUELIN, Chloe - SIGAUDY, Sabine - BUSA, Tiffany - VERA, Gabriella - DAMAJ, Lena - MESSIAEN, Ludwine - STEVENSON, David A. - DAVIES, Peter - PALMER-SMITH, Sheila - CALLAWAY, Alison - WOLKENSTEIN, Pierre - PASMANT, Eric - UPADHYAYA, Meena. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. In EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, vol. 30, no. 3, pp. 291-297. ISSN 1018-4813. Dostupné na: https://doi.org/10.1038/s41431-021-01015-4. SCHURR, Sarah V. - HARTIGAN, Kelly A. - GUTMANN, David H. Human induced pluripotent stem cell modeling of neurofibromatosis type 1. In Current Progress in iPSC Disease Modeling, 2022-01-01, pp. 1-30. Dostupné na: https://doi.org/10.1016/B978-0-323-85765-9.00008-4. Category ADDA - Scientific papers in domestic journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2013 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.4149/neo_2013_084 
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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) 2013 2012 1.574 Q4 0.762 Q3
Number of the records: 1