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Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients.
Title Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients. Author Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Bolčeková Anna Another authors Ilenčíková Denisa (Author) Ďurovčíková Darina (Author) Hlinková K. (Author) Hlavatá A. (Author) Kovács László (Author) Kádaši Ľudevít 1952- (Author) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Zaťková Andrea 1971- (Author) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Source document Annals of Human Genetics. Vol. 77, no. 5 (2013), p. 364-379 Language eng - English Note ITMS 26240220058, ITMS 26240220071, VEGA 2/0104/10 Document kind rozpis článkov z periodík (rbx) Citations BALLA, Bernadett - ARVAI, Kristof - HORVATH, Peter - TOBIAS, Balint - TAKACS, Istvan - NAGY, Zsolt - DANK, Magdolna - FEKETE, Gyoergy - KOSA, Janos P. - LAKATOS, Peter. Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene. In JOURNAL OF MOLECULAR NEUROSCIENCE. ISSN 0895-8696, 2014, vol. 53, no. 2, pp. 204. XU, Weihong - YANG, Xiao - HU, Xiaoxia - LI, Shibo. Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. In INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. ISSN 1107-3756, 2014, vol. 34, no. 1, pp. 53. MARUOKA, Ryo - TAKENOUCHI, Toshiki - TORII, Chiharu - SHIMIZU, Atsushi - MISU, Kumiko - HIGASA, Koichiro - MATSUDA, Fumihiko - OTA, Arihito - TANITO, Katsumi - KURAMOCHI, Akira - ARIMA, Yoshimi - OTSUKA, Fujio - YOSHIDA, Yuichi - MORIYAMA, Keiji - NIIMURA, Michihito - SAYA, Hideyuki - KOSAKI, Kenjiro. The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study. In GENETIC TESTING AND MOLECULAR BIOMARKERS. ISSN 1945-0265, 2014, vol. 18, no. 11, pp. 722. 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. SEIDLIN, Mindell - HOLZMAN, Robert - KNIGHT, Pamela - KORF, Bruce - MILLER, Vanessa Rangel - VISKOCHIL, David - BAKKER, Annette. Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study. In PLOS ONE. ISSN 1932-6203, 2017, vol. 12, no. 6, pp. BAXTER, Adrianne L. - VIVIAN, Jay L. - HAGELSTROM, R. Tanner - HOSSAIN, Waheeda - GOLDEN, Wendy L. - WASSMAN, E. Robert - VANZO, Rena J. - BUTLER, Merlin G. A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. In MOLECULAR SYNDROMOLOGY. ISSN 1661-8769, 2017, vol. 8, no. 4, pp. 211-218. TSIPI, Maria - POULOU, Myrto - FYLAKTOU, Irene - KOSMA, Konstantina - TSOUTSOU, Eirini - PONS, Maria-Roser - KOKKINOU, Eleftheria - KITSIOU-TZELI, Sofia - FRYSSIRA, Helen - TZETIS, Maria. Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA. In JOURNAL OF THE NEUROLOGICAL SCIENCES. ISSN 0022-510X, 2018, vol. 395, no., pp. 95-105. CORSELLO, Giovanni - ANTONA, Vincenzo - SERRA, Gregorio - ZARA, Federico - GIAMBRONE, Clara - LAGALLA, Luca - PICCIONE, Maria - PIRO, Ettore. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1. In ITALIAN JOURNAL OF PEDIATRICS. ISSN 1720-8424, 2018, vol. 44, no., pp. SOGHI, Ida - SAEEDI, Samira - SANAGOO, Akram - JOUYBARI, Leila - EBRAHIMIRAD, Mohamad - MEHRAVAR, Fatemeh. Quality of life in a group of Iranian patients with neurofibromatosis type 1 with cutaneous expressions. In Journal of Mazandaran University of Medical Sciences. ISSN 17359279, 2018-07-01, 28, 162, pp. 95-103. RADEMACHER, Annika - SCHWARZ, Niklas - SEIFFERT, Simone - PENDZIWIAT, Manuela - ROHR, Axel - VAN BAALEN, Andreas - HELBIG, Ingo - WEBER, Yvonne - MUHLE, Hiltrud. Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy. In NEUROPEDIATRICS. ISSN 0174-304X, 2020, vol. 51, no. 05, pp. 368-372. Dostupné na: https://doi.org/10.1055/s-0040-1710524. PECES, Ramon - MENA, Rocio - MARTIN, Yolanda - HERNANDEZ, Concepcion - PECES, Carlos - TELLERIA, Dolores - CUESTA, Emilio - SELGAS, Rafael - LAPUNZINA, Pablo - NEVADO, Julian. Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2. In MOLECULAR GENETICS & GENOMIC MEDICINE. ISSN 2324-9269, 2020, vol. 8, no. 8, pp. Dostupné na: https://doi.org/10.1002/mgg3.1321. GRZADKOWSKI, Michal R. - HOLLY, Hannah D. - SOMERS, Julia - DEMIR, Emek. Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes. In BMC BIOINFORMATICS. ISSN 1471-2105, 2021, vol. 22, no. 1, pp. Dostupné na: https://doi.org/10.1186/s12859-021-04147-y. PEREZ-BECERRIL, Cristina - EVANS, D. Gareth - SMITH, Miriam J. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. In HUMAN MUTATION. ISSN 1059-7794, 2021, vol. 42, no. 10, pp. 1187-1207. Dostupné na: https://doi.org/10.1002/humu.24261. KIRAT, Emre - ALBAYRAK, Hatice Mutlu. The Spectrum of NF1 Gene Variations in Southeastern Turkey. In JOURNAL OF PEDIATRIC RESEARCH. ISSN 2147-9445, 2021, vol. 8, no. 3, pp. 286-296. Dostupné na: https://doi.org/10.4274/jpr.galenos.2021.03379. N. ABDEL-AZIZ, Nahla - Y. EL-KAMAH, Ghada - A. KHAIRAT, Rabab - R. MOHAMED, Hanan - Z. GAD, Yehia - EL-GHOR, Akmal M. - AMR, Khalda S. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1. In MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, vol. 9, no. 12, pp. ISSN 2324-9269. Dostupné na: https://doi.org/10.1002/mgg3.1631. OZ, Ozlem. Genotype-Phenotype Correlation of Novel NF1 Gene Variants Detected by NGS in Patients with Neurofibromatosis Type 1. In NEUROCHEMICAL JOURNAL, 2021, vol. 15, no. 4, pp. 469-476. ISSN 1819-7124. Dostupné na: https://doi.org/10.1134/S1819712421040097. GÓMEZ-TOMÁS, Álvaro - FERRÁNDIZ-PULIDO, Carla - APARICIO-ESPAÑOL, Gloria - GARCÍA-PATOS, Vicente. Clinical diagnosis in type I neurofibromatosis: An update. In Piel, 2021-01-01, 36, 1, pp. 31-39. ISSN 02139251. Dostupné na: https://doi.org/10.1016/j.piel.2020.05.006. NAPOLITANO, Filomena - DELL'AQUILA, Milena - TERRACCIANO, Chiara - FRANZESE, Giuseppina - GENTILE, Maria Teresa - PILUSO, Giulio - SANTORO, Claudia - COLAVITO, Davide - PATANE, Anna - DE BLASIIS, Paolo - SAMPAOLO, Simone - PALADINO, Simona - MELONE, Mariarosa Anna Beatrice. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype. In GENES, 2022, vol. 13, no. 7, pp. Dostupné na: https://doi.org/10.3390/genes13071130. ALBA-PAVóN, P. - ALAñA, L. - ASTIGARRAGA, I. - VILLATE, O. Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer. In CANCERS. DEC 2022, vol. 14, no. 23. Dostupné na: https://doi.org/10.3390/cancers14235967. YING, Zhu - YUNYI, Guo - DANLU, Zhang - BIRONG, Guo - ZHONGHUI, Sun. Mutation analysis in 5 families with mild phenotypes of neurofibromatosis type 1. In Chinese Journal of Dermatology, 2022-01-01, 55, 6, pp. 519-522. ISSN 04124030. Dostupné na: https://doi.org/10.35541/cjd.20201263. Category ADCA - Scientific papers in foreign 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 10.1111/ahg.12026 
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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 2.215 Q3 1.028 Q2
Number of the records: 1