المؤلفون: Piotrowski, A, Koczkowska, M, Poplawski, AB, Bartoszewski, R, Kroliczewski, J, Mieczkowska, A, Gomes, A, Crowley, MR, Crossman, DK, Chen, YJ, Lao, P, Serra, E, Llach, MC, Castellanos, E, Messiaen, LM

المصدر: Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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مصطلحات موضوعية: low level mosaicism, schwannomatosis, deep intronic variant, NEFH, massively parallel sequencing, NF2, MYO18B, SMARCB1, LZTR1, SBF1, SGSM1, SGSM3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::8a2c9b69a94ea61b350083d9a05e7393
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1532

المؤلفون: Piotrowski A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; 3P-Medicine Laboratory, Medical University of Gdansk, Gdansk, Poland.; Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland., Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; 3P-Medicine Laboratory, Medical University of Gdansk, Gdansk, Poland.; Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland., Poplawski AB; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Bartoszewski R; Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland., Króliczewski J; Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland., Mieczkowska A; Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Crowley MR; Genomic Core Facility, University of Alabama at Birmingham, Birmingham, Alabama, USA., Crossman DK; Genomic Core Facility, University of Alabama at Birmingham, Birmingham, Alabama, USA., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Lao P; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Serra E; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias i Pujol Research Institute (IGTP), Barcelona, Spain., Llach MC; Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias i Pujol Research Institute (IGTP), Barcelona, Spain., Castellanos E; Clinical Genomics Research Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias i Pujol Research Institute (IGTP), Barcelona, Spain.; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HUGTiP), Barcelona, Spain., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

المصدر: Human mutation [Hum Mutat] 2022 Jan; Vol. 43 (1), pp. 74-84. Date of Electronic Publication: 2021 Nov 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Neurilemmoma*/genetics , Neurilemmoma*/pathology , Neurofibromatoses*/genetics, Chromosomes ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; SMARCB1 Protein/genetics ; Transcription Factors/genetics