المؤلفون: Wu F; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Ji X; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China., Gao Y; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China., Liu W; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China., Lu Y; Beijing Key Laboratory of Environmental and Viral Oncology, Faculty of Chemistry and Life Sciences, Beijing University of Technology, Beijing, China., Yang A; Translational Medicine Laboratory, Beijing Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China., Wang J; Translational Medicine Laboratory, Beijing Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China., Chen Q; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing, China. Electronic address: dr_chenqian@163.com., Zhang X; State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103444. Date of Electronic Publication: 2024 May 15.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/pathology , Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/pathology , Epilepsy*/genetics , Epilepsy*/pathology , Mutation* , Heterozygote*, Humans ; Neurofibromin 1/genetics ; Cell Line ; Cell Differentiation ; Male ; Genes, Neurofibromatosis 1

المؤلفون: Batool L; Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: lilas.batool@charite.de., Storozhuk O; CURE NF Research group, Medical Faculty, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany, Große Steinstrasse 52, 06108 Halle (Saale), Germany., Raab C; Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany., Madlen Beez C; Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Deutsches Herzzentrum der Charité (DHZC), Department of Cardiothoracic and Vascular Surgery, Augustenburger Platz 1, 13353 Berlin, Germany., Selig M; Institute of Medical Genetics, University Medical Centre Johannes Gutenberg University (UMC) Mainz, Germany., Harder A; CURE NF Research group, Medical Faculty, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany, Große Steinstrasse 52, 06108 Halle (Saale), Germany; Institute of Neuropathology, University Medical Centre Johannes Gutenberg University (UMC) Mainz, Germany; Research Center for Immunotherapy (FZI), University Medical Centre Johannes Gutenberg University (UMC) Mainz, Germany., Kurtz A; Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Fraunhofer-Institute for Biomedical Engineering (IBMT), Biomedical Data & Bioethics, Germany, Anna-Loisa-Karsch Str. 2, 10178 Berlin, Germany.

المصدر: Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103184. Date of Electronic Publication: 2023 Aug 15.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Neurofibromatosis 1*/genetics, Humans ; Genes, Neurofibromatosis 1 ; Leukocytes, Mononuclear ; Cell Differentiation

المؤلفون: Moreno-Salgado R; Medical Genetics Department Hospital Infantil de México Federico Gómez, National Institute of Health, Dr. Márquez 162 Colonia Doctores, Mexico City, Mexico. Electronic address: rmoreno@himfg.edu.mx., Rios-Lozano YZ; Medical Genetics Department Hospital Infantil de México Federico Gómez, National Institute of Health, Dr. Márquez 162 Colonia Doctores, Mexico City, Mexico., Tamayo-Palacio AC; Medical Genetics Department Hospital Infantil de México Federico Gómez, National Institute of Health, Dr. Márquez 162 Colonia Doctores, Mexico City, Mexico., Castillo AI; Pediatric Oncology Department Hospital Infantil de México Federico Gómez, National Institute of Health, Mexico., Hidalgo-Martínez MF; Pediatric Oncology Department Hospital Infantil de México Federico Gómez, National Institute of Health, Mexico.

المصدر: Cancer genetics [Cancer Genet] 2023 Jun; Vol. 274-275, pp. 72-74. Date of Electronic Publication: 2023 Apr 15.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Nerve Sheath Neoplasms*/genetics , Nerve Sheath Neoplasms*/diagnosis , Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/pathology , Neurofibrosarcoma*/genetics, Female ; Humans ; Genes, Neurofibromatosis 1 ; Germ Cells/metabolism ; Maternal Inheritance ; Child

المؤلفون: Guan L; Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China., Li J; Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China., Zhang Z; Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China., Huang A; Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China., Ke X; Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China; Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China. Electronic address: kexiaoyan@njmu.edu.cn.

المصدر: Asian journal of psychiatry [Asian J Psychiatr] 2023 Jun; Vol. 84, pp. 103544. Date of Electronic Publication: 2023 Mar 15.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101517820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-2026 (Electronic) Linking ISSN: 18762018 NLM ISO Abbreviation: Asian J Psychiatr Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/genetics, Humans ; Genes, Neurofibromatosis 1 ; Gene Deletion

المؤلفون: Nemani VM; Center for Neurosciences and Spine and Division of Neurosurgery, Virginia Mason Medical Center, Seattle, Washington, USA. Electronic address: vnemani@gmail.com., Eley N; Center for Neurosciences and Spine and Division of Neurosurgery, Virginia Mason Medical Center, Seattle, Washington, USA., Hubka M; Division of Thoracic Surgery, Virginia Mason Medical Center, Seattle, Washington, USA., Sethi RK; Center for Neurosciences and Spine and Division of Neurosurgery, Virginia Mason Medical Center, Seattle, Washington, USA; Department of Health Services, University of Washington, Seattle, Washington, USA.

المصدر: World neurosurgery [World Neurosurg] 2024 May; Vol. 185, pp. 95-102. Date of Electronic Publication: 2024 Feb 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101528275 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-8769 (Electronic) Linking ISSN: 18788750 NLM ISO Abbreviation: World Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Spinal Fusion*/methods , Pseudarthrosis*/surgery , Pseudarthrosis*/etiology , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/surgery , Thoracic Surgery, Video-Assisted*/methods , Scoliosis*/surgery , Scoliosis*/diagnostic imaging, Humans ; Male ; Thoracic Vertebrae/surgery ; Thoracic Vertebrae/diagnostic imaging

المؤلفون: Tovani-Palone MR; Department of Research Analytics, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, India. Electronic address: marcos_palone@hotmail.com., Bistagnino F; Department of Medical Biotechnology and Translational Medicine, International Medical School, Università degli Studi di Milano, Milan, Italy., Shah PA; Bangalore Medical College and Research Institute, Bangalore, India.

المصدر: Clinics (Sao Paulo, Brazil) [Clinics (Sao Paulo)] 2024 Feb 15; Vol. 79, pp. 100332. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101244734 Publication Model: eCollection Cited Medium: Internet ISSN: 1980-5322 (Electronic) Linking ISSN: 18075932 NLM ISO Abbreviation: Clinics (Sao Paulo) Subsets: MEDLINE

مواضيع طبية MeSH: Neurocutaneous Syndromes*/therapy , Neurocutaneous Syndromes*/complications , Tuberous Sclerosis*/complications , Tuberous Sclerosis*/therapy , Neurofibromatosis 1*/therapy , Neurofibromatosis 1*/complications, Humans ; Patient Care Team ; Dentistry

المؤلفون: Pacot L; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Ye M; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Nectoux J; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Laurendeau I; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Briand-Suleau A; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Coustier A; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Maillard T; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Barbance C; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Orhant L; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Vaucouleur N; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Blanché H; CRB du CEPH, Fondation Jean Dausset-CEPH, Paris, France., Parfait B; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris, Créteil, France; INSERM, Clinical Investigation Center 1430, Referral Center of Neurofibromatosis, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris, Faculté de Santé Paris Est Créteil, Créteil, France., Vidaud M; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Vidaud D; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Pasmant E; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France. Electronic address: eric.pasmant@inserm.fr.

مؤلفون مشاركون: EURONET-NF

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Feb; Vol. 26 (2), pp. 150-157. Date of Electronic Publication: 2023 Nov 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics, Humans ; Multiplex Polymerase Chain Reaction ; Homologous Recombination ; Phenotype ; Family ; Gene Deletion

المؤلفون: Martorana D; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; CoreLAB Research Center, University Hospital of Parma, 43126, Italy., Barili V; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy., Uliana V; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy., Ambrosini E; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy., Riva M; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy., De Sensi E; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy., Luppi E; Medical Genetics, University of Bologna, Italy., Messina C; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy., Caleffi E; Plastic Surgery, University Hospital of Parma, 43126, Parma, Italy., Pisani F; Children's Neuropsychological Services, Department of Medicine and Surgery, University of Parma, Parma, Italy., Percesepe A; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address: antonio.percesepe@unipr.it.

المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Nov; Vol. 66 (11), pp. 104847. Date of Electronic Publication: 2023 Sep 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics, Adult ; Humans ; Retrospective Studies ; Genetic Testing/methods ; Mutation, Missense

المؤلفون: Coulpier F; Mondor Institute for Biomedical Research, Creteil, France., Pulh P; Mondor Institute for Biomedical Research, Creteil, France., Oubrou L; Mondor Institute for Biomedical Research, Creteil, France., Naudet J; Mondor Institute for Biomedical Research, Creteil, France., Fertitta L; Mondor Institute for Biomedical Research, Creteil, France; Dermatology Department, Centre de Référence des Neurofibromatoses, Hôpital Henri-Mondor, AP-HP, Créteil, France., Gregoire JM; Pierre Fabre Dermatology, Toulouse, France., Bocquet A; Pierre Fabre Dermatology, Toulouse, France., Schmitt AM; Pierre Fabre Dermatology, Toulouse, France., Wolkenstein P; Mondor Institute for Biomedical Research, Creteil, France; Dermatology Department, Centre de Référence des Neurofibromatoses, Hôpital Henri-Mondor, AP-HP, Créteil, France., Radomska KJ; Mondor Institute for Biomedical Research, Creteil, France. Electronic address: katarzyna.radomska@inserm.fr., Topilko P; Mondor Institute for Biomedical Research, Creteil, France. Electronic address: piotr.topilko@inserm.fr.

المصدر: Translational research : the journal of laboratory and clinical medicine [Transl Res] 2023 Nov; Vol. 261, pp. 16-27. Date of Electronic Publication: 2023 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101280339 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1810 (Electronic) Linking ISSN: 18781810 NLM ISO Abbreviation: Transl Res Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/drug therapy , Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/metabolism , Neurofibroma*/drug therapy , Neurofibroma*/genetics , Skin Neoplasms*/drug therapy , Skin Neoplasms*/genetics , Skin Neoplasms*/prevention & control, Humans ; Mice ; Animals ; Benzimidazoles ; Protein Kinase Inhibitors/pharmacology ; Mitogen-Activated Protein Kinases

المؤلفون: Mauro GP; Department of Radiology and Oncology - Discipline of Radiotherapy- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. Electronic address: geovanne95@gmail.com., Da Róz LM; Department of Neurology - Discipline of Neurosurgery- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Gico VC; Department of Radiation Oncology, Instituto do Câncer do Estado de São Paulo (ICESP), Medical School of Sao Paulo University, Sao Paulo, SP, Brazil., Weltman E; Department of Radiology and Oncology - Discipline of Radiotherapy- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Department of Radiation Oncology, Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil., César de Souza E; Department of Neurology - Discipline of Neurosurgery- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Figueiredo EG; Department of Neurology - Discipline of Neurosurgery- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil., Teixeira MJ; Department of Neurology - Discipline of Neurosurgery- Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

المصدر: World neurosurgery [World Neurosurg] 2023 Nov; Vol. 179, pp. e416-e420. Date of Electronic Publication: 2023 Aug 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101528275 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-8769 (Electronic) Linking ISSN: 18788750 NLM ISO Abbreviation: World Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Neuroma, Acoustic*/complications , Neuroma, Acoustic*/radiotherapy , Neuroma, Acoustic*/surgery , Neurofibromatosis 2*/complications , Neurofibromatosis 2*/radiotherapy , Radiosurgery*/methods, Humans ; Retrospective Studies ; Prospective Studies ; Treatment Outcome ; Follow-Up Studies