المؤلفون: Watanabe G; Department of Neurosurgery, Shinshu University School of Medicine., Fujii Y; Department of Neurosurgery, Shinshu University School of Medicine., Hanaoka Y; Department of Neurosurgery, Shinshu University School of Medicine., Tanaka M; Department of Pediatrics, Shinshu University School of Medicine., Iwaya M; Department of Laboratory Medicine, Shinshu University Hospital., Horiuchi T; Department of Neurosurgery, Shinshu University School of Medicine.

المصدر: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2024 Jul 27; Vol. 64 (7), pp. 474-479. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article; Case Reports; English Abstract

بيانات الدورية: Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1882-0654 (Electronic) Linking ISSN: 0009918X NLM ISO Abbreviation: Rinsho Shinkeigaku Subsets: MEDLINE

مواضيع طبية MeSH: Isocitrate Dehydrogenase*/genetics , Glioma*/genetics , Mutation* , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology , Cell Transformation, Neoplastic*/genetics , Enchondromatosis*/genetics , Enchondromatosis*/diagnostic imaging, Humans ; Male ; Young Adult ; Fatal Outcome ; Adolescent

المؤلفون: Salduz A; Department of Orthopaedics and Traumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Bayram S; Department of Orthopaedics and Traumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Bulakci M; Department of Radiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

المصدر: Medicine [Medicine (Baltimore)] 2024 Jul 26; Vol. 103 (30), pp. e39106.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Enchondromatosis*/diagnostic imaging , Enchondromatosis*/pathology , Tomography, X-Ray Computed*/methods, Humans ; Retrospective Studies ; Child ; Male ; Female ; Adolescent ; Child, Preschool ; Magnetic Resonance Imaging/methods

المؤلفون: Rattanapornsompong K; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63557. Date of Electronic Publication: 2024 Feb 02.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Enchondromatosis*/genetics , Enchondromatosis*/diagnosis , Enchondromatosis*/pathology , Brain Diseases, Metabolic, Inborn*, Humans ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/diagnosis ; Mutation/genetics

SCR Disease Name: 2-Hydroxyglutaricaciduria

المؤلفون: Scognamiglio D; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Boarini M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: manila.boarini@ior.it., la Forgia MC; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Grippa E; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Forni S; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Sergi A; SOC Monitoraggio e Programmazione Performance Clinico-assistenziale, Azienda USL Toscana Centro, Italy., Romeo A; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Massa G; A.C.A.R. Aps - Associazione Conto Alla Rovescia, Rome, Italy., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104891. Date of Electronic Publication: 2023 Nov 30.

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: Enchondromatosis* , Exostoses, Multiple Hereditary*, Adult ; Humans ; Child ; Delivery of Health Care ; Communication

المؤلفون: Ikeda H; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan., Yamaguchi S; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan., Ishi Y; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan., Wakabayashi K; Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan., Shimizu A; Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan., Kanno-Okada H; Surgical Pathology, Kushiro Rosai Hospital, Kushiro, Japan., Endo T; Department of Orthopedic Surgery, Hokkaido University School of Medicine, Sapporo, Japan., Ota M; Department of Orthopedic Surgery, Hokkaido University School of Medicine, Sapporo, Japan., Okamoto M; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan., Motegi H; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan., Iwasaki N; Department of Orthopedic Surgery, Hokkaido University School of Medicine, Sapporo, Japan., Fujimura M; Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan.

المصدر: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2023 Oct; Vol. 43 (5), pp. 413-420. Date of Electronic Publication: 2023 Mar 20.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 9606526 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1789 (Electronic) Linking ISSN: 09196544 NLM ISO Abbreviation: Neuropathology Subsets: MEDLINE

مواضيع طبية MeSH: Oligodendroglioma*/genetics , Oligodendroglioma*/pathology , Enchondromatosis*/complications , Enchondromatosis*/genetics , Enchondromatosis*/pathology , Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/genetics , Glioma*/genetics , Astrocytoma*/genetics , Astrocytoma*/pathology, Female ; Humans ; Young Adult ; Adult ; In Situ Hybridization, Fluorescence ; Isocitrate Dehydrogenase/genetics ; Mutation

المؤلفون: Martínez-Doménech Á; Department of Dermatology, Consorci Hospital General Universitari de Valencia, Valencia, Spain., Esteve-Martínez A; Department of Dermatology, Consorci Hospital General Universitari de Valencia, Valencia, Spain., Pérez-Pastor G; Department of Dermatology, Consorci Hospital General Universitari de Valencia, Valencia, Spain., Sánchez-Carazo JL; Department of Dermatology, Consorci Hospital General Universitari de Valencia, Valencia, Spain., Pérez-Ferriols A; Department of Dermatology, Consorci Hospital General Universitari de Valencia, Valencia, Spain.

المصدر: The Australasian journal of dermatology [Australas J Dermatol] 2024 Jun; Vol. 65 (4), pp. e108-e110. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Case Reports; Letter; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0135232 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-0960 (Electronic) Linking ISSN: 00048380 NLM ISO Abbreviation: Australas J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Lymphangioma*/diagnosis , Lymphangioma*/pathology, Humans ; Skin Neoplasms/diagnosis ; Skin Neoplasms/pathology ; Lower Extremity ; Male ; Female ; Enchondromatosis/diagnosis

عنوان ترانسليتريتد: Maladie d’Ollier.

المؤلفون: Bellamlih H; Service de radiologie, hôpital militaire Moulay-Ismail, Meknès, Maroc. Université Sidi Mohamed Ben Abdellah, Fès, Maroc., El Bouazzi O; Institut supérieur des professions infirmières et techniques de santé de Fès, direction régionale de la santé Fès-Meknès, Meknès, Maroc., Belabbes S; Service de radiologie, hôpital militaire Moulay-Ismail, Meknès, Maroc., El Haddad A; Service de radiologie, hôpital militaire Moulay-Ismail, Meknès, Maroc., Zinoun B; Service de radiologie, hôpital militaire Moulay-Ismail, Meknès, Maroc., Africha T; Service de radiologie, hôpital militaire Moulay-Ismail, Meknès, Marocc.

المصدر: La Revue du praticien [Rev Prat] 2023 Jun; Vol. 73 (6), pp. 657.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: J.-B. Baillière Country of Publication: France NLM ID: 0404334 Publication Model: Print Cited Medium: Internet ISSN: 2101-017X (Electronic) Linking ISSN: 00352640 NLM ISO Abbreviation: Rev Prat Subsets: MEDLINE

مواضيع طبية MeSH: Enchondromatosis*, Humans

المؤلفون: Yilmaz-Gulec E; Department of Medical Genetics, Health Sciences University, Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey. Electronic address: elif.yilmazgulec@medeniyet.edu.tr., Marzin P; Université de Paris Cité, Génétique clinique, INSERM UMR 1163, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France., Huber-Lequesne C; Université de Paris Cité, Génétique clinique, INSERM UMR 1163, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France., Cormier-Daire V; Université de Paris Cité, Génétique clinique, INSERM UMR 1163, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Mar; Vol. 66 (3), pp. 104697. Date of Electronic Publication: 2023 Jan 14.

نوع المنشور: Case Reports; 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: Enchondromatosis*/diagnostic imaging , Enchondromatosis*/genetics, Humans ; Isocitrate Dehydrogenase/genetics ; Mutation ; Phenotype ; Male ; Child

SCR Disease Name: 2-Hydroxyglutaricaciduria

المؤلفون: Wu C; Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 201102, Shanghai, China., Huang Y; Department of Pediatric Orthopaedics, Hainan Women and Children's Medical Center, Haikou, 570206, China., Huang P; Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 201102, Shanghai, China., Mo Y; Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 201102, Shanghai, China., Wang D; Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 201102, Shanghai, China., Ning B; Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 201102, Shanghai, China. ningbo@fudan.edu.cn.

المصدر: Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology [J Orthop Traumatol] 2023 Jul 31; Vol. 24 (1), pp. 39. Date of Electronic Publication: 2023 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 101090931 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-9999 (Electronic) Linking ISSN: 15909921 NLM ISO Abbreviation: J Orthop Traumatol Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis* , Lower Extremity* , Enchondromatosis*/surgery , Bone Lengthening*, Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Leg/abnormalities ; Treatment Outcome ; Femur/abnormalities ; Femur/surgery ; Tibia/abnormalities ; Tibia/surgery ; Leg Length Inequality/surgery

المؤلفون: Hou C; Department of Ultrasound, Lanzhou University Second Hospital, Lanzhou, Gansu Province, China; Department of Medical Imaging, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China., He W; Department of Ultrasound, Lanzhou University Second Hospital, Lanzhou, Gansu Province, China. Electronic address: hewen@bjtth.org.

المصدر: European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery [Eur J Vasc Endovasc Surg] 2023 Jul; Vol. 66 (1), pp. 48. Date of Electronic Publication: 2023 Apr 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9512728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2165 (Electronic) Linking ISSN: 10785884 NLM ISO Abbreviation: Eur J Vasc Endovasc Surg Subsets: MEDLINE

مواضيع طبية MeSH: Enchondromatosis* , Vascular Malformations*/complications , Vascular Malformations*/diagnostic imaging , Vascular Diseases* , Cardiovascular Abnormalities*, Humans