المؤلفون: Jandhyala NR; New York University Grossman School of Medicine, New York, New York., Garcia MR; Department of Neurology, NYU Langone Health, New York, New York., Kim M; Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, Ohio., Yohay K; Department of Neurology, NYU Langone Health, New York, New York., Segal D; Department of Neurology, NYU Langone Health, New York, New York. Electronic address: Devorah.segal@nyulangone.org.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jul; Vol. 156, pp. 66-71. Date of Electronic Publication: 2024 Apr 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnostic imaging , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/pathology , Corpus Callosum*/diagnostic imaging , Corpus Callosum*/pathology , Magnetic Resonance Imaging* , Glioma*/diagnostic imaging , Glioma*/pathology , Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/pathology , Brain Neoplasms*/complications, Humans ; Child ; Child, Preschool ; Adolescent ; Male ; Female ; Infant ; Adult ; Young Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Retrospective Studies

المؤلفون: Soni N; From the Mayo Clinic (N.S., A.A., V.G.), Jacksonville, Florida drneetusoni98@gmail.com., Agarwal A; From the Mayo Clinic (N.S., A.A., V.G.), Jacksonville, Florida., Ajmera P; Mayo Clinic (P.A., P.M., I.T.M., S.A.M., G.B.), Rochester, Minnesota., Mehta P; Mayo Clinic (P.A., P.M., I.T.M., S.A.M., G.B.), Rochester, Minnesota., Gupta V; From the Mayo Clinic (N.S., A.A., V.G.), Jacksonville, Florida., Vibhute M; College of Medicine (M.V.), St. George's University, Grenada, West Indies., Gubbiotti M; MD Anderson Cancer Center (M.G.), University of Texas, Houston, Texas., Mark IT; Mayo Clinic (P.A., P.M., I.T.M., S.A.M., G.B.), Rochester, Minnesota., Messina SA; Mayo Clinic (P.A., P.M., I.T.M., S.A.M., G.B.), Rochester, Minnesota., Mohan S; Perelman School of Medicine (S.M.), University of Pennsylvania, Philadelphia, Pennsylvania., Bathla G; Mayo Clinic (P.A., P.M., I.T.M., S.A.M., G.B.), Rochester, Minnesota.

المصدر: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2024 Apr 08; Vol. 45 (4), pp. 468-474. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnostic imaging , Neurofibromatosis 1*/pathology , Astrocytoma*/diagnostic imaging , Astrocytoma*/genetics , Astrocytoma*/pathology , Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology, Adult ; Humans ; Male ; Female ; Middle Aged ; Histones/genetics ; Brain/pathology ; Mutation

المؤلفون: Guerrini-Rousseau L; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France lea.guerrini-rousseau@gustaveroussy.fr.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Pasmant E; Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.; Inserm U1016-CNRS UMR8104, Institut Cochin, Université Paris Cité, CARPEM, Paris, France., Muleris M; Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France., Abbou S; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Adam-De-Beaumais T; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Brugieres L; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Cabaret O; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Colas C; Department of Genetics, Institut Curie, PSL Research University, Paris, France.; Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe Labellisée Par la Ligue Nationale Contre le Cancer, Institut Curie, PSL Research University, Paris, France., Cotteret S; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Decq P; Neurosurgery Department, Beaujon Hospital, Paris Cité University, Paris, France., Dufour C; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Guillerm E; Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France., Rouleau E; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Varlet P; Service de Neuropathologie, GHU Psychiatrie et Neurosciences, site Sainte-Anne, Paris, France., Zili S; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Vidaud D; Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France., Grill J; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 158-162. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics , Neoplastic Syndromes, Hereditary*/genetics , Brain Neoplasms*/genetics , Colorectal Neoplasms*/genetics, Female ; Humans ; Mosaicism ; Retrospective Studies ; Mismatch Repair Endonuclease PMS2/genetics ; DNA Mismatch Repair/genetics

SCR Disease Name: Turcot syndrome

المؤلفون: Dal Bello S; Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy., Martinuzzi D; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy., Tereshko Y; Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy., Veritti D; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy., Sarao V; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy., Gigli GL; Department of Medical Area, University of Udine, 33100 Udine, Italy., Lanzetta P; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy., Valente M; Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy.; Department of Medical Area, University of Udine, 33100 Udine, Italy.

المصدر: Cells [Cells] 2023 Sep 29; Vol. 12 (19). Date of Electronic Publication: 2023 Sep 29.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/complications , Neurofibromatosis 1*/therapy , Optic Nerve Glioma*/therapy , Optic Nerve Glioma*/complications , Brain Neoplasms*/therapy , Hyperthermia, Induced*, Adult ; Humans ; Child ; Immunotherapy ; Tumor Microenvironment

المؤلفون: Romo CG; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Piotrowski AF; Departments of Neurology and Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Campian JL; Departments of Neurology and Pathology, Washington University School of Medicine, St. Louis, Missouri, USA., Diarte J; Departments of Neurology and Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Rodriguez FJ; Department of Pathology, University of California Los Angeles, Los Angeles, California, USA., Bale TA; Departments of Neurology and Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Dahiya S; Departments of Neurology and Pathology, Washington University School of Medicine, St. Louis, Missouri, USA., Gutmann DH; Departments of Neurology and Pathology, Washington University School of Medicine, St. Louis, Missouri, USA., Lucas CG; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Prichett L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Mellinghoff I; Departments of Neurology and Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Blakeley JO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

المصدر: Neuro-oncology [Neuro Oncol] 2023 Aug 03; Vol. 25 (8), pp. 1474-1486.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/complications , Neurofibromatosis 1*/genetics , Glioma*/genetics , Glioma*/pathology , Astrocytoma*/genetics , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology, Female ; Humans ; Adult ; Retrospective Studies ; Disease Progression

المؤلفون: Sargen MR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Kim J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Velthuizen ME; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Martir-Negron AE; Miami Cancer Institute, Baptist Health South Florida, Miami., Odia Y; Miami Cancer Institute, Baptist Health South Florida, Miami., Helgadottir H; Department of Oncology and Pathology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden., Hatton JN; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Haley JS; Department of Genomic Health, Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Thone G; Department of Genomic Health, Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Widemann BC; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Gross AM; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Yohe ME; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, Frederick, Maryland., Kaplan RN; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Shern JF; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Sundby RT; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Astiazaran-Symonds E; Department of Medicine, University of Arizona College of Medicine, Tucson., Yang XR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Carey DJ; Department of Genomic Health, Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Tucker MA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Stewart DR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Goldstein AM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.

المصدر: JAMA dermatology [JAMA Dermatol] 2023 Oct 01; Vol. 159 (10), pp. 1112-1118.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Melanoma*/epidemiology , Melanoma*/genetics , Neurofibromatosis 1*/diagnosis , Skin Neoplasms*/epidemiology , Skin Neoplasms*/genetics , Astrocytoma*/epidemiology , Astrocytoma*/genetics , Neurilemmoma* , Brain Neoplasms*/epidemiology , Brain Neoplasms*/genetics, Humans ; Female ; Middle Aged ; Aged ; Male ; Retrospective Studies ; Cohort Studies ; Prevalence ; Phenotype ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Melanoma, Cutaneous Malignant

SCR Disease Name: Melanoma astrocytoma syndrome

المؤلفون: Mir A; Department of Pediatric Neurology., AlMudhry M; Department of Pediatric Neurology., AlOtaibi W; Department of Pediatric Neurology., AlHazmi R; Departmentof Medical Imaging., AlBaradie R; Department of Pediatric Neurology., AlHarbi Q; Department of Pediatric Hematology, Oncology and Stem Cell Transplant., Bashir S; Department of Pediatric Neurology., Chamdine O; Department of Pediatric Hematology, Oncology and Stem Cell Transplant., Housawi Y; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.

المصدر: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2023 Jul 01; Vol. 45 (5), pp. e613-e620. Date of Electronic Publication: 2023 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics , Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics , Colorectal Neoplasms*/genetics , Brain Neoplasms*/diagnosis , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology, Humans ; Child ; Syndrome ; Retrospective Studies ; Cafe-au-Lait Spots/diagnosis ; Cafe-au-Lait Spots/genetics ; DNA Mismatch Repair ; Mismatch Repair Endonuclease PMS2/genetics

SCR Disease Name: Turcot syndrome

المؤلفون: Cross KA; Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO, USA., Salehi A; Division of Pediatric Neurosurgery, Department of Neurological Surgery, University of Nebraska Medical Center, Omaha Children's Hospital Medical Center, Omaha, NE, USA., Abdelbaki MS; Division of Hematology and Oncology, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Gutmann DH; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Limbrick DD Jr; Division of Pediatric Neurosurgery, Department of Neurological Surgery, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. limbrickd@wustl.edu.

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2023 Mar; Vol. 39 (3), pp. 787-791. Date of Electronic Publication: 2022 Sep 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms*/complications , Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/therapy , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/diagnostic imaging , Neurofibromatosis 1*/therapy , Laser Therapy* , Glioma*/complications , Glioma*/diagnostic imaging , Glioma*/therapy , Astrocytoma*/diagnostic imaging , Astrocytoma*/therapy, Humans ; Child ; Magnetic Resonance Imaging ; Lasers

المؤلفون: Iqbal F; Department of Surgery, Abbasi Shaheed Hospital, Karachi, Pakistan., Jamaluddin M; Department of Surgery, Abbasi Shaheed Hospital, Karachi, Pakistan., Bukhari F; Final Year MBBS Student, Karachi Medical and Dental College, Karachi, Pakistan., Islam OS; Department of Surgery, Abbasi Shaheed Hospital, Karachi, Pakistan.

المصدر: JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2023 Feb; Vol. 73 (2), pp. 393-395.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Internet ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibrosarcoma*/diagnostic imaging , Neurofibrosarcoma*/surgery , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/diagnosis , Brain Neoplasms* , Arthrogryposis* , Bone Cysts* , Cysts*, Female ; Humans ; Adult

المؤلفون: Henriques Vieira I; Endocrinology Department. Coimbra Hospital and University Centre. Coimbra. Portugal., Almeida V; Anatomical Pathology Unit. Coimbra Hospital and University Centre. Coimbra. Medical School. University of Coimbra. Coimbra. Portugal., Moreno C; Endocrinology Department. Coimbra Hospital and University Centre. Coimbra. Medical School. University of Coimbra. Coimbra. Portugal., Paiva I; Endocrinology Department. Coimbra Hospital and University Centre. Coimbra. Portugal.

المصدر: Acta medica portuguesa [Acta Med Port] 2023 Jan 02; Vol. 36 (1), pp. 55-58. Date of Electronic Publication: 2022 Apr 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Centro Editor Livreiro da Ordem dos Médicos Country of Publication: Portugal NLM ID: 7906803 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1646-0758 (Electronic) Linking ISSN: 0870399X NLM ISO Abbreviation: Acta Med Port Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Gland Neoplasms*/complications , Adrenal Gland Neoplasms*/diagnosis , Adrenal Gland Neoplasms*/surgery , Brain Neoplasms*/complications , Neurofibromatosis 1*/complications , Neurofibromatosis 1*/pathology , Paraganglioma* , Pheochromocytoma*/complications , Pheochromocytoma*/diagnosis , Pheochromocytoma*/surgery, Female ; Humans ; Pregnancy ; Follow-Up Studies