المؤلفون: Qazi M; 4th Year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan., Khan BA; Department of Paediatrics, Sindh Government General Hospital, Karachi, Pakistan., Kumar V; Department of Paediatrics, Sindh Government General Hospital, Karachi, Pakistan., Amin M; Dow University of Health Sciences, Karachi, Pakistan., Ateeque K; 5th Year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan.

المصدر: JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2024 Aug; Vol. 74 (8), pp. 1575-1577.

نوع المنشور: Case Reports; Journal Article

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: Fanconi Anemia*/complications , Fanconi Anemia*/diagnosis , Fanconi Anemia*/genetics , Cafe-au-Lait Spots*/genetics, Humans ; Female ; Chromosome Breakage ; Epoxy Compounds

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: Hur H; Choice Dermatology Clinic, Pyeongchon, Korea., Baek JO; Department of Dermatology, Gachon University, College of Medicine, Incheon, Korea., Joo JS; Choice Dermatology Clinic, Pyeongchon, Korea., Jung H; Choice Dermatology Clinic, Pyeongchon, Korea., Kim YR; Choice Dermatology Clinic, Pyeongchon, Korea., Choi SJ; Chamjoeun Dermatology Clinic, Seoul, Korea., Shim DT; Shimducktaik Dermatology Clinic, Bundang, Korea.

المصدر: The Journal of dermatological treatment [J Dermatolog Treat] 2024 Dec; Vol. 35 (1), pp. 2390081. Date of Electronic Publication: 2024 Aug 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8918133 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-1753 (Electronic) Linking ISSN: 09546634 NLM ISO Abbreviation: J Dermatolog Treat Subsets: MEDLINE

مواضيع طبية MeSH: Lasers, Solid-State*/therapeutic use , Cafe-au-Lait Spots*/radiotherapy, Humans ; Female ; Male ; Infant ; Treatment Outcome ; Child, Preschool ; Low-Level Light Therapy

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: Folch Flores, Albert

المساهمون: University/Department: Universitat de Barcelona. Facultat d'Economia i Empresa

مرشدي الرسالة: Planas i Maresma, Jordi, 1963-

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Cooperativisme, Cooperativismo, Cooperation, Agricultura biològica, Agricultura biológica, Organic farming, Comerç just, Comercio justo, Fair trade, Indústria del cafè, Industria del café, Coffee industry, Chiapas (Mèxic), Chiapas (México), Chiapas (Mexico), Ciències Jurídiques, Econòmiques i Socials

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/691426

المؤلفون: Wang X; Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Children's Hospital of Henan Province, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China, Zhengzhou, Henan 450053, China. cyx75@126.com., Zhang Y, Du M, Yang H, Liu X, Wang M, Chen J, Chen Y, Wei 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] 2024 Aug 10; Vol. 41 (8), pp. 941-946.

نوع المنشور: Journal Article; Case Reports; English Abstract

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: Adaptor Proteins, Signal Transducing*/genetics , Intracellular Signaling Peptides and Proteins*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Mutation ; Exome Sequencing ; Genetic Testing ; Cafe-au-Lait Spots/genetics ; Puberty, Precocious/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: 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