المؤلفون: Sabry AO; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt. Ahmed.O.Sabry@kasralainy.edu.eg., Abolenain AS; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Mostafa N; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ramadan A; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ghanem M; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt.

المصدر: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Jun 27; Vol. 25 (1), pp. 502. Date of Electronic Publication: 2024 Jun 27.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968565 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2474 (Electronic) Linking ISSN: 14712474 NLM ISO Abbreviation: BMC Musculoskelet Disord Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/complications , Cafe-au-Lait Spots*/diagnosis , Cafe-au-Lait Spots*/genetics, Humans ; Male ; Adolescent ; Female ; Fibroma/diagnosis ; Fibroma/pathology ; Femoral Fractures/diagnostic imaging ; Femoral Fractures/etiology

المؤلفون: Medina Lemus A; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada., Boelman C; Division of Neurology, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Myers KA; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63547. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Case Reports; 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: Epilepsy*/genetics , Epilepsy*/epidemiology , Epilepsy*/complications , Epilepsy*/pathology , Cafe-au-Lait Spots*/genetics , Cafe-au-Lait Spots*/pathology , Cafe-au-Lait Spots*/complications , Cafe-au-Lait Spots*/epidemiology, Humans ; Female ; Male ; Phenotype ; Child ; Adult ; Adaptor Proteins, Signal Transducing/genetics ; Pedigree ; Electroencephalography ; Adolescent ; Magnetic Resonance Imaging ; Mutation ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/genetics ; Intracellular Signaling Peptides and Proteins/genetics

SCR Disease Name: Legius syndrome

المؤلفون: Kakurai M; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan., Oya K; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan., Ishii Y; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan., Nomura T; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.

المصدر: The Journal of dermatology [J Dermatol] 2023 Aug; Vol. 50 (8), pp. e232-e233. Date of Electronic Publication: 2023 Feb 23.

نوع المنشور: Letter

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1346-8138 (Electronic) Linking ISSN: 03852407 NLM ISO Abbreviation: J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Cafe-au-Lait Spots* , Neurofibromatosis 1*, Humans

المؤلفون: Unsal Y; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gozmen O; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., User İR; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Hızarcıoglu H; Department of Pediatrics, Division of Pediatric Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gulhan B; Department of Pediatrics, Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Ekinci S; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Karagoz T; Department of Pediatrics, Division of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Ozon ZA; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gonc EN; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jul 25; Vol. 14, pp. 1209189. Date of Electronic Publication: 2023 Jul 25 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Fibrous Dysplasia, Polyostotic*/complications , Fibrous Dysplasia, Polyostotic*/diagnosis , Fibrous Dysplasia, Polyostotic*/drug therapy , Cafe-au-Lait Spots* , Cushing Syndrome*/diagnosis , Cushing Syndrome*/drug therapy, Infant, Small for Gestational Age ; Humans ; Female ; Infant, Newborn ; Adrenocorticotropic Hormone/therapeutic use ; Hydrocortisone/therapeutic use

المؤلفون: Khatri N; Dr. Ruth K. M. Pfau Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan., Raza ML; Al Fatima Hospital, Gulshan e Iqbal, Karachi, Pakistan; Department of Health Management, IoBM, Karachi, Pakistan., Aijaz A; Dr. Ruth K. M. Pfau Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan., Ramesh R; Dr. Ruth K. M. Pfau Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan., Gianchand N; Dr. Ruth K. M. Pfau Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan., Khan FAA; Dr. Ruth K. M. Pfau Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan.

المصدر: Acta neurologica Taiwanica [Acta Neurol Taiwan] 2024 Sep 30; Vol. 33(3), pp. 112-121.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Color Design Country of Publication: China (Republic : 1949- ) NLM ID: 9815355 Publication Model: Print Cited Medium: Print ISSN: 1028-768X (Print) Linking ISSN: 1028768X NLM ISO Abbreviation: Acta Neurol Taiwan Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/complications , Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/pathology , Neurofibroma, Plexiform*/complications , Neurofibromatoses*/complications , Neurofibroma*/diagnosis , Neurofibroma*/complications , Neurofibroma*/pathology , Hamartoma*/complications , Eye Neoplasms*/complications, United States ; Humans ; Cafe-au-Lait Spots/complications ; Cafe-au-Lait Spots/diagnosis ; Cafe-au-Lait Spots/pathology

المؤلفون: Nakato D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

المصدر: Congenital anomalies [Congenit Anom (Kyoto)] 2023 Mar; Vol. 63 (2), pp. 54-55. Date of Electronic Publication: 2023 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

مواضيع طبية MeSH: Cafe-au-Lait Spots*/complications , Cafe-au-Lait Spots*/genetics , Neurofibromatosis 1*/genetics, Humans ; Sequence Deletion

SCR Disease Name: Legius syndrome

المؤلفون: Fernandez JK; Baylor College of Medicine, Houston, Texas, USA., Guo EL; Dermatology & Laser Surgery Center, Houston, Texas, USA., Richmond H; Dermatology & Laser Surgery Center, Houston, Texas, USA., Friedman PM; Dermatology & Laser Surgery Center, Houston, Texas, USA.; Department of Dermatology, McGovern Medical School, University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Dermatology, Weill Cornell Medical College, Houston Methodist Hospital, Houston, TX, USA.

المصدر: Lasers in surgery and medicine [Lasers Surg Med] 2024 Mar; Vol. 56 (3), pp. 257-262. Date of Electronic Publication: 2024 Feb 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8007168 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9101 (Electronic) Linking ISSN: 01968092 NLM ISO Abbreviation: Lasers Surg Med Subsets: MEDLINE

مواضيع طبية MeSH: Lasers, Solid-State*/therapeutic use , Hyperpigmentation*/etiology , Hypopigmentation*/etiology, Humans ; Infant ; Adult ; Titanium ; Cafe-au-Lait Spots/radiotherapy ; Treatment Outcome ; Aluminum Oxide

المؤلفون: Mu D; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan Uniersity/Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University/Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu 610041, China., Liu HQ; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan Uniersity/Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University/Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu 610041, China.

المصدر: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] [Zhonghua Yu Fang Yi Xue Za Zhi] 2024 Feb 06; Vol. 58 (2), pp. 183-190.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7904962 Publication Model: Print Cited Medium: Print ISSN: 0253-9624 (Print) Linking ISSN: 02539624 NLM ISO Abbreviation: Zhonghua Yu Fang Yi Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Fibrous Dysplasia, Polyostotic*/diagnosis , Fibrous Dysplasia, Polyostotic*/genetics , Fibrous Dysplasia, Polyostotic*/therapy , Puberty, Precocious*/diagnosis , Puberty, Precocious*/therapy, Humans ; Mutation ; Cafe-au-Lait Spots/diagnosis ; Cafe-au-Lait Spots/genetics ; Cafe-au-Lait Spots/therapy

المؤلفون: Chen L; Department of Dermatology, Tianjin University Children's Hospital,Tianjin, China; 238 Longyan Road, Beichen District, Tianjin, 300000, China., Wang Y; Department of Dermatology, Tianjin University Children's Hospital,Tianjin, China; 238 Longyan Road, Beichen District, Tianjin, 300000, China., Fang H; Department of Otolaryngology, Tianjin University Children's Hospital, Tianjin, China; 238 Longyan Road, Beichen District, Tianjin, 300000, China., Liu X; Department of Dermatology, Tianjin University Children's Hospital,Tianjin, China; 238 Longyan Road, Beichen District, Tianjin, 300000, China., Li Q; Department of Dermatology, Tianjin University Children's Hospital,Tianjin, China; 238 Longyan Road, Beichen District, Tianjin, 300000, China.

المصدر: European journal of dermatology : EJD [Eur J Dermatol] 2023 Apr 01; Vol. 33 (2), pp. 168-170.

نوع المنشور: Case Reports; 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: Adaptor Proteins, Signal Transducing* , Cafe-au-Lait Spots*, Humans ; Infant ; Mutation

SCR Disease Name: Legius syndrome

المؤلفون: Magg V; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany., Manetto A; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany., Kopp K; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany., Wu CC; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany., Naghizadeh M; Heidelberg University, Medical Faculty Mannheim, Division of Biochemistry, Mannheim Institute for Innate Immunoscience (MI3) and Mannheim Cancer Center (MCC), 68167 Mannheim, Germany., Lindner D; Heidelberg University, Medical Faculty Mannheim, Division of Biochemistry, Mannheim Institute for Innate Immunoscience (MI3) and Mannheim Cancer Center (MCC), 68167 Mannheim, Germany., Eke L; Faculty of Health and Medical Sciences, School of Biosciences and Medicine, University of Surrey, Guildford, UK., Welsch J; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany., Kallenberger SM; Digital Health Center, Berlin Institute of Health (BIH) and Charité, 10178 Berlin, Germany; Medical Oncology, National Center for Tumor Diseases, Heidelberg University, 69120 Heidelberg, Germany., Schott J; Heidelberg University, Medical Faculty Mannheim, Division of Biochemistry, Mannheim Institute for Innate Immunoscience (MI3) and Mannheim Cancer Center (MCC), 68167 Mannheim, Germany., Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie, 13125 Berlin, Germany; Freie Universität Berlin, Faculty of Biology, Chemistry, and Pharmacy, 14195 Berlin, Germany., Locker N; Faculty of Health and Medical Sciences, School of Biosciences and Medicine, University of Surrey, Guildford, UK; The Pirbright Institute, GU24 0NF Pirbright, UK., Stoecklin G; Heidelberg University, Medical Faculty Mannheim, Division of Biochemistry, Mannheim Institute for Innate Immunoscience (MI3) and Mannheim Cancer Center (MCC), 68167 Mannheim, Germany; Center for Molecular Biology of Heidelberg University (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany. Electronic address: georg.stoecklin@medma.uni-heidelberg.de., Ruggieri A; Heidelberg University, Medical Faculty Heidelberg, Department of Infectious Diseases, Molecular Virology, Center for Integrative Infectious Disease Research, 69120 Heidelberg, Germany. Electronic address: alessia.ruggieri@med.uni-heidelberg.de.

المصدر: Cell reports [Cell Rep] 2024 Apr 23; Vol. 43 (4), pp. 114069. Date of Electronic Publication: 2024 Apr 10.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: 3' Untranslated Regions*/genetics , Protein Phosphatase 1*/metabolism , Protein Phosphatase 1*/genetics, Animals ; Humans ; Mice ; Adaptation, Physiological/genetics ; AU Rich Elements/genetics ; HEK293 Cells ; RNA Stability/genetics ; RNA, Messenger/metabolism ; RNA, Messenger/genetics ; Stress, Physiological/genetics ; Tristetraprolin/metabolism ; Tristetraprolin/genetics