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: Bettinaglio P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Italy., Tritto V; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Italy., Paterra R; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Eoli M; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Riva P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Italy.

المصدر: Annals of human genetics [Ann Hum Genet] 2024 May; Vol. 88 (3), pp. 183-193. Date of Electronic Publication: 2023 Nov 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/genetics, Humans ; Alleles ; Phenotype ; Mutation, Missense ; Polymerase Chain Reaction ; Genes, Neurofibromatosis 1

المؤلفون: Zhao X; Department of Dermatology, the First Affiliated Hospital of Xiamen University, Xiamen, Fujian 361003, China. clq196806@126.com., Zhou K, Zhang Q, Cai L

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 317-321.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Blood Group Antigens* , Neurofibromatosis 1*/genetics, Humans ; Asian People/genetics ; China ; Genes, Neurofibromatosis 1 ; Pedigree

المؤلفون: Zhang Y; Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com., Yan L, Xie M, Xue J, Zhuang D, Li H

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Dec 10; Vol. 40 (12), pp. 1478-1483.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/diagnosis, Child ; Humans ; Female ; Male ; Cafe-au-Lait Spots/genetics ; Cafe-au-Lait Spots/diagnosis ; Genes, Neurofibromatosis 1 ; Retrospective Studies ; Frameshift Mutation

المؤلفون: Kuhrt LD; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Technology Platform Pluripotent Stem Cells, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Charité - Universitätsmedizin Berlin, Berlin, Germany., Motta E; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Department of Neurosurgery, University Medical Center Schleswig-Holstein, 24105 Kiel, Germany., Elmadany N; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; German Cancer Consortium (DKTK), Clinical Cooperation Unit (CCU), Neuroimmunology and Brain Tumor Immunology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.; Department of Neurology, Medical Faculty Mannheim (MCTN), University of Heidelberg, 68167 Mannheim, Germany., Weidling H; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Charité - Universitätsmedizin Berlin, Berlin, Germany., Fritsche-Guenther R; Berlin Institute of Health (BIH) at Charité - Universitätsmedizin Berlin, BIH Metabolomics Platform, 13353 Berlin, Germany., Efe IE; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Charité - Universitätsmedizin Berlin, Berlin, Germany., Cobb O; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Chatterjee J; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Boggs LG; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Schnauß M; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany., Diecke S; Technology Platform Pluripotent Stem Cells, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany., Semtner M; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Klinik für Augenheilkunde, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany., Anastasaki C; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Gutmann DH; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Kettenmann H; Cellular Neurosciences, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.; Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China, 518000.

المصدر: Disease models & mechanisms [Dis Model Mech] 2023 Dec 01; Vol. 16 (12). Date of Electronic Publication: 2023 Dec 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Neurofibromatosis 1*/genetics, Animals ; Humans ; Mice ; Genes, Neurofibromatosis 1 ; Microglia/pathology ; Mutation/genetics ; Neurofibromin 1/genetics

المؤلفون: Hu Z; Huanggang Central Hospital of Yangtze University, Huanggang, China., Zhou M; Department of Dermatology, Union Hospital Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Zeng Z; Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Huang H; Huanggang Central Hospital of Yangtze University, Huanggang, China., Zhang M; Huanggang Central Hospital of Yangtze University, Huanggang, China., Zou J; Huanggang Central Hospital of Yangtze University, Huanggang, China., Xia GM; Huanggang Central Hospital of Yangtze University, Huanggang, China., Wu Y; Department of Dermatology, Union Hospital Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Yang J; Department of Dermatology, the first Affiliated Hospital of Yangtze University, Jingzhou, China., Lin N; Department of Dermatology, Union Hospital Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

المصدر: European journal of dermatology : EJD [Eur J Dermatol] 2023 Dec 01; Vol. 33 (6), pp. 697-699.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 9206420 Publication Model: Print Cited Medium: Internet ISSN: 1952-4013 (Electronic) Linking ISSN: 11671122 NLM ISO Abbreviation: Eur J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/complications , Neurofibromatosis 1*/genetics, Humans ; Frameshift Mutation ; Neurofibromin 1/genetics ; Pedigree ; Mutation ; Genes, Neurofibromatosis 1

المؤلفون: Wang D; Department of Burn and Plastic Surgery, West China Hospital of Sichuan University, Chengdu, People's Republic of China., Wen X; Department of Burn and Plastic Surgery, West China Hospital of Sichuan University, Chengdu, People's Republic of China., Xu LL; Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai, People's Republic of China., Chen QX; Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai, People's Republic of China., Yan TX; Central Laboratory, National Clinical Research Center for Oral Diseases, Peking University School and Hospital of Stomatology, Beijing, People's Republic of China., Xiao HT; Department of Burn and Plastic Surgery, West China Hospital of Sichuan University, Chengdu, People's Republic of China., Xu XW; Department of Burn and Plastic Surgery, West China Hospital of Sichuan University, Chengdu, People's Republic of China.

المصدر: Physiological genomics [Physiol Genomics] 2023 Oct 01; Vol. 55 (10), pp. 415-426. Date of Electronic Publication: 2023 Jul 31.

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

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 9815683 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-2267 (Electronic) Linking ISSN: 10948341 NLM ISO Abbreviation: Physiol Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/metabolism , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/epidemiology , Cardiovascular Diseases*/genetics, Humans ; Genes, Neurofibromatosis 1 ; Neurofibromin 1/genetics ; Neurofibromin 1/metabolism ; Heart

المؤلفون: Wang W; Pediatric Translational Medicine Institute, Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Key Laboratory of Pediatric Hematology & Oncology of China Ministry of Health, Shanghai, China., Li X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai, China., Qin X; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Miao Y; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Zhang Y; State Key Laboratory of Oncogenes and Related Genes, Renji-Med X Clinical Stem Cell Research Center, Ren Ji Hospital, Shanghai Cancer Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Li S; Pediatric Translational Medicine Institute, Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Key Laboratory of Pediatric Hematology & Oncology of China Ministry of Health, Shanghai, China., Yao R; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai, China., Yang Y; Pediatric Translational Medicine Institute, Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Key Laboratory of Pediatric Hematology & Oncology of China Ministry of Health, Shanghai, China., Yu L; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Zhu H; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Song L; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Mao S; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai, China., Chen J; Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai, China., Feng H; State Key Laboratory of Oncogenes and Related Genes, Renji-Med X Clinical Stem Cell Research Center, Ren Ji Hospital, Shanghai Cancer Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Li Y; Pediatric Translational Medicine Institute, Department of Hematology & Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Key Laboratory of Pediatric Hematology & Oncology of China Ministry of Health, Shanghai, China.

المصدر: British journal of haematology [Br J Haematol] 2023 Jul; Vol. 202 (2), pp. 328-343. Date of Electronic Publication: 2023 May 05.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Myelomonocytic, Juvenile*/genetics , Leukemia, Myelomonocytic, Juvenile*/therapy , Leukemia, Myelomonocytic, Juvenile*/metabolism , Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/therapy, Animals ; Humans ; Neurofibromin 1/genetics ; Genes, Neurofibromatosis 1 ; Germ-Line Mutation ; Mutation ; Immunity ; Germ Cells/metabolism ; Germ Cells/pathology

المؤلفون: Giraud JS; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Bièche I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Genetic Department, Curie Institute, Paris, France., Pasmant É; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Genetic Department, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Tlemsani C; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Oncology Department, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.

المصدر: Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2023 Jul-Dec; Vol. 32 (10), pp. 941-957. Date of Electronic Publication: 2023 Nov 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9434197 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7658 (Electronic) Linking ISSN: 13543784 NLM ISO Abbreviation: Expert Opin Investig Drugs Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/genetics , Neurofibromatosis 1*/metabolism , Neurofibromatosis 1*/pathology, Humans ; Neurofibromin 1/genetics ; Neurofibromin 1/metabolism ; Genes, Neurofibromatosis 1 ; Proto-Oncogene Proteins c-akt ; Precision Medicine ; Phosphatidylinositol 3-Kinases/genetics ; TOR Serine-Threonine Kinases/metabolism

المؤلفون: Büki G; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary., Bekő A; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary., Bödör C; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary., Urbán P; Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, Szentágothai Research Centre, University of Pécs, 7624 Pécs, Hungary., Németh K; Pediatric Center, Tűzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary., Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary., Fekete G; Pediatric Center, Tűzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary., Kehrer-Sawatzki H; Institut of Human Genetics, University of Ulm, 89081 Ulm, Germany., Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Sep 01; Vol. 24 (17). Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Case Reports; 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: Neurofibromatosis 1*/genetics , Megalencephaly*, Humans ; DNA Copy Number Variations ; Genes, Neurofibromatosis 1 ; Chromosome Mapping