المؤلفون: Binmadi, NO, Yang, YH, Zhou, H, Lin, YL, Batista De Paula, AM, Sena Guimaraes, AL, Poswar, FO, Sundararajan, D, Basile, JR, PROIA, Patrizia

المساهمون: Binmadi, NO, Yang, YH, Zhou, H, Proia, P, Lin, YL, Batista De Paula, AM, Sena Guimaraes, AL, Poswar, FO, Sundararajan, D, Basile, JR

مصطلحات موضوعية: semaphorin 4D, perineural invasion, cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3658::2417fc650ada782fbe3ab4220335c3bc
http://hdl.handle.net/10447/97528

المؤلفون: John R. Basile, Alfredo Maurício Batista de Paula, Hua Zhou, Yi-Ling Lin, Patrizia Proia, Ying-Hua Yang, Devaki Sundararajan, André Luiz Sena Guimarães, Fabiano de Oliveira Poswar, Nada O. Binmadi

المساهمون: Binmadi, NO, Yang, YH, Zhou, H, Proia, P, Lin, YL, DePaula, AM, Guimarães, AL, Poswar, FO, Sundararajan, D, Basile, JR

المصدر: Am J Pathol

مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, Cell type, animal structures, RHOA, Nervous System Neoplasms, Transplantation, Heterologous, Perineural invasion, Retraction Notice, Mice, Nude, Nerve Tissue Proteins, Receptors, Cell Surface, Semaphorins, Pathology and Forensic Medicine, 03 medical and health sciences, Mice, 0302 clinical medicine, Semaphorin, Antigens, CD, Cell Movement, Cell Line, Tumor, Settore BIO/10 - Biochimica, medicine, Animals, Humans, Neoplasm Invasiveness, Axon, RNA, Small Interfering, Cell adhesion, 030304 developmental biology, Mice, Knockout, 0303 health sciences, biology, Drug Synergism, Axons, Transplantation, Mice, Inbred C57BL, medicine.anatomical_structure, 030220 oncology & carcinogenesis, embryonic structures, biology.protein, Cancer research, perineural invasion, tumor cells, Rho kinase-dependent manner, plexin B1, rhoA GTP-Binding Protein, Neoplasm Transplantation, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11443b0cfd63bf182369131a94cdcffb

المؤلفون: Montenegro YHA; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil., Kubaski F; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil., Trapp FB; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil., Riegel-Giugliani M; Casa dos Raros, Porto Alegre, RS, Brazil., Souza CFM; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Serviço de Genética Médica, Fortaleza, CE, Brazil., Lourenço CM; Centro Universitário Estácio, Ribeirão Preto, SP, Brazil., Cardoso-Dos-Santos AC; Hospital Infantil Albert Sabin, Serviço de Genética Médica, Fortaleza, CE, Brazil., Ribeiro MG; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Serviço de Genética Médica, Rio de Janeiro, RJ, Brazil., Kim CA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, São Paulo, SP, Brazil., Castro MAA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto da Criança, São Paulo, SP, Brazil., Embiruçu EK; Universidade Federal da Bahia, Complexo Hospitalar Universitário Professor Edgar Santos, Departamento de Ciências da Vida, Salvador, BA, Brazil., Steiner CE; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Medicina Translacional, São Paulo, SP, Brazil., Vairo FPE; Mayo Clinic, Center for Individualized Medicine, Rochester, MN, USA.; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA., Baldo G; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Departamento de Fisiologia, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil., Giugliani R; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Instituto Nacional de Genética Médica Papulacional, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Rede MPS Brasil, Porto Alegre, RS, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil.; Dasa Genômica, São Paulo, SP, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil., Poswar FO; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.

المصدر: Genetics and molecular biology [Genet Mol Biol] 2024 Mar 08; Vol. 47 (1), pp. e20230285. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sociedade Brasileira de Genética Country of Publication: Brazil NLM ID: 100883590 Publication Model: eCollection Cited Medium: Print ISSN: 1415-4757 (Print) Linking ISSN: 14154757 NLM ISO Abbreviation: Genet Mol Biol Subsets: PubMed not MEDLINE

المؤلفون: Vernet Machado Bressan Wilke M; Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre 90035003, Brazil., Iop GD; Biodiscovery Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035903, Brazil., Faqueti L; Biodiscovery Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035903, Brazil., Lemos da Silva LA; Biodiscovery Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035903, Brazil., Kubaski F; Biochemical Genetics Laboratory, Greenwood Genetics Center, Greenwood, SC 29646, USA., Poswar FO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil.; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90035003, Brazil., Michelin-Tirelli K; LEIM-Biochemical Genetics Laboratory, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil., Randon D; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil., Borelli WV; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil., Giugliani R; Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre 90035003, Brazil.; Biodiscovery Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035903, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil.; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90035003, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90035003, Brazil.; Dasa Genômica, São Paulo 04078013, Brazil.; Casa dos Raros, Porto Alegre 90035003, Brazil., Schwartz IVD; Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre 90035003, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil.; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90035003, Brazil.; Instituto Nacional de Doenças Raras-InRaras, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035003, Brazil.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 01; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Gaucher Disease*/diagnosis , Monoclonal Gammopathy of Undetermined Significance* , Psychosine*/analogs & derivatives, Adult ; Female ; Humans ; Infant, Newborn ; Biomarkers ; Brazil ; Chromatography, Liquid ; Cross-Sectional Studies ; Immunoglobulin G/blood ; Tandem Mass Spectrometry

المؤلفون: de Lima Silva EV; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, RS, Brazil., Donis KC; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil., Machado FRC; Physiatry Service - Hospital de Clínicas de Porto Alegre, RS, Brazil., Simão Medeiros L; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, RS, Brazil.; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil., Aschoff CAM; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil., de Souza CFM; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil.; Graduate Program in Child and Adolescent Health, Federal University of Rio Grande do Sul, RS, Brazil., Poswar FO; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, RS, Brazil.; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil., Saute JAM; Medical Genetics Service - Hospital de Clínicas de Porto Alegre, RS, Brazil.; Graduate Program in Medical Sciences, Federal University of Rio Grande do Sul, RS, Brazil.; Internal Medicine Department, Federal University of Rio Grande do Sul, RS, Brazil.

المصدر: Journal of neuromuscular diseases [J Neuromuscul Dis] 2023; Vol. 10 (6), pp. 1145-1149.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Dantrolene*/therapeutic use , Rhabdomyolysis*/drug therapy , Rhabdomyolysis*/complications, Humans ; Child ; Child, Preschool ; Myalgia/drug therapy ; Myalgia/etiology ; Ryanodine Receptor Calcium Release Channel/genetics ; Muscles

المؤلفون: Poswar FO; Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil.; DR Brasil Research Group, HCPA, Porto Alegre, RS, Brazil., Henriques Nehm J; Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Kubaski F; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, SC, USA., Poletto E; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Giugliani R; Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil.; DR Brasil Research Group, HCPA, Porto Alegre, RS, Brazil.; Department of Genetics, UFRGS, Porto Alegre, RS, Brazil.; DASA Genômica, São Paulo, SP, Brazil.; Casa dos Raros, Porto Alegre, RS, Brazil.

المصدر: Therapeutics and clinical risk management [Ther Clin Risk Manag] 2022 Dec 22; Vol. 18, pp. 1143-1155. Date of Electronic Publication: 2022 Dec 22 (Print Publication: 2022).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Dove Medical Press Country of Publication: New Zealand NLM ID: 101253281 Publication Model: eCollection Cited Medium: Print ISSN: 1176-6336 (Print) Linking ISSN: 11766336 NLM ISO Abbreviation: Ther Clin Risk Manag Subsets: PubMed not MEDLINE

المؤلفون: Poswar FO; Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Santos HS; Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Santos ABS; Cardiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Postgraduate Program in Cardiology and Cardiovascular Sciences, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Berger SV; Cardiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., de Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Baldo G; Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Postgraduate Program in Physiology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

المصدر: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2022 Jan 12; Vol. 8, pp. 801147. Date of Electronic Publication: 2022 Jan 12 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

المؤلفون: Montenegro YHA; Instituto de Ciências, Universidade Federal do Rio Grande do Sul., Baldo G; Instituto de Ciências, Universidade Federal do Rio Grande do Sul., Giugliani R; Departamento de Genética, Universidade Federal do Rio Grande do Sul., Poswar FO; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, Rio Grande do Sul., Sobrinho RPO; Departamento de Genética Médica, Universidade de Campinas, Faculdade de Ciências Médicas, Campinas, São Paulo, Brazil., Steiner CE; Departamento de Genética Médica, Universidade de Campinas, Faculdade de Ciências Médicas, Campinas, São Paulo, Brazil.

المصدر: Psychiatric genetics [Psychiatr Genet] 2021 Oct 01; Vol. 31 (5), pp. 199-204.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9106748 Publication Model: Print Cited Medium: Internet ISSN: 1473-5873 (Electronic) Linking ISSN: 09558829 NLM ISO Abbreviation: Psychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis III/*complications , Mucopolysaccharidosis III/*diagnosis , Schizophrenia/*etiology, Acetylglucosaminidase/genetics ; Adolescent ; Age of Onset ; Female ; Glycosaminoglycans/urine ; Humans ; Mucopolysaccharidosis III/genetics ; Mutation

المؤلفون: Poswar FO; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., da Silva LP; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Zambrano MB; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Pedrini DB; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Saute JAM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Giugliani R; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Sep; Vol. 187 (3), pp. 381-387. Date of Electronic Publication: 2021 Sep 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, Inborn*, Clinical Trials as Topic ; Humans ; Latin America

المؤلفون: van Geest FS; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Meima ME; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus Medical Center, GD Rotterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, AZ Amsterdam, Netherlands.; Amsterdam Neuroscience, HV Amsterdam, Netherlands., van der Knaap MS; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, AZ Amsterdam, Netherlands.; Amsterdam Neuroscience, HV Amsterdam, Netherlands., Lorea CF; Teaching Hospital of Universidade Federal de Pelotas, Brazil., Poswar FO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Bakhtiani P; University of Louisville, Kentucky, USA., de Munnik SA; Department of Human Genetics, Radboud University Medical Centre Nijmegen, GA Nijmegen, the Netherlands., Peeters RP; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Visser WE; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Groeneweg S; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Jan 23; Vol. 106 (2), pp. 539-553.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Phenotype*, Intellectual Disability/*pathology , Monocarboxylic Acid Transporters/*genetics , Symporters/*genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Intellectual Disability/genetics ; Male ; Prognosis