المؤلفون: Yamada, Mamiko, Tanito, Katsumi, Suzuki, Hisato, Nakato, Daisuke, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

المصدر: Cleft Palate Craniofacial Journal; Nov2024, Vol. 61 Issue 11, p1932-1936, 5p

مصطلحات موضوعية: RISK assessment, CAFE-au-Lait spots (Disease), CHROMOSOME abnormalities, GENETIC counseling, CLEFT palate, GENETIC testing, DISEASE risk factors, DISEASE complications

المؤلفون: Bangun, Kristaninta, Kreshanti, Prasetyanugraheni, Tania, Vika, Ariani Aswin, Yulia, Menna, Clara, Aurino, Leorca

المصدر: Cleft Palate Craniofacial Journal; Mar2024, Vol. 61 Issue 3, p527-533, 7p

مصطلحات موضوعية: TOE abnormalities, MOSAICISM, AUDITORY perception testing, EPILEPSY, CLEFT palate, MICROCEPHALY, KARYOTYPES, DEVELOPMENTAL disabilities, CUTANEOUS manifestations of general diseases, CLEFT lip, CHROMOSOME abnormalities, HEALTH care teams, HEARING disorders, COMPUTED tomography, CAFE-au-Lait spots (Disease), INTELLECTUAL disabilities, RARE diseases, EARLY diagnosis, NEUROLOGIC examination, SYMPTOMS

المؤلفون: Romagnuolo, Maurizio, Moltrasio, Chiara, Gasperini, Serena, Marzano, Angelo Valerio, Cambiaghi, Stefano

المصدر: Children; Dec2023, Vol. 10 Issue 12, p1920, 7p

مصطلحات موضوعية: HAIR diseases, SEQUENCE analysis, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS I, ITCHING, CAFE-au-Lait spots (Disease), MUCOPOLYSACCHARIDOSIS

المؤلفون: Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A, Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J, Friedman, Jan M, Gutmann, David H, Kehrer-Sawatzki, Hildegard, Korf, Bruce R, Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A, Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A, Tadini, Gianluca, Ullrich, Nicole J, Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M, Evans, D Gareth, Plotkin, Scott R

المصدر: Genetics in Medicine. 23(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Rare Diseases, Clinical Research, Neurofibromatosis, Cafe-au-Lait Spots, Consensus, Genetic Testing, Humans, Neurofibromatosis 1, International Consensus Group on Neurofibromatosis Diagnostic Criteria, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7j03w3x3
https://escholarship.org/content/qt7j03w3x3/qt7j03w3x3.pdf

المؤلفون: Aum Sanjay Bapat, Kamala Kant Bhoi, Priya Pathak, Manali Madhukar Shinde, Naresh Verma

المصدر: International Journal of Pharmaceutical and Clinical Research, 16(2), 1087-1091, (2024-02-28)

مصطلحات موضوعية: Neurofibromatosis, Hypertrichosis, Hyperpigmented lesions, Café-au-lait spots, case report

Relation: https://doi.org/10.5281/zenodo.11077776; https://doi.org/10.5281/zenodo.11077777; oai:zenodo.org:11077777; https://impactfactor.org/PDF/IJPCR/16/IJPCR,Vol16,Issue2,Article177.pdf

الاتاحة: https://doi.org/10.5281/zenodo.11077777
https://impactfactor.org/PDF/IJPCR/16/IJPCR,Vol16,Issue2,Article177.pdf

المؤلفون: Ramírez Suarez, Reynier, Rivero Pérez , Oscar, Morales Paz , Yanara Reyna

المصدر: Revista Estomatológica Herediana; Vol. 34 No. 1 (2024): Enero-marzo; 91-96 ; Revista Estomatológica Herediana; Vol. 34 Núm. 1 (2024): Enero-marzo; 91-96 ; Revista Estomatológica Herediana; v. 34 n. 1 (2024): Enero-marzo; 91-96 ; 2225-7616 ; 1019-4355

مصطلحات موضوعية: síndrome de McCune-Albright, displasia fibrosa, manchas café con leche, McCune-Albright syndrome, fibrous dysplasia, café-au-lait spots, manchas café-com-leite

وصف الملف: application/pdf; text/xml

Relation: https://revistas.upch.edu.pe/index.php/REH/article/view/5307/5579; https://revistas.upch.edu.pe/index.php/REH/article/view/5307/5894; https://revistas.upch.edu.pe/index.php/REH/article/view/5307/5895; https://revistas.upch.edu.pe/index.php/REH/article/view/5307

الاتاحة: https://revistas.upch.edu.pe/index.php/REH/article/view/5307
https://doi.org/10.20453/reh.v34i1.5307

المؤلفون: Yan, Wupeng, Markegard, Evan, Dharmaiah, Srisathiyanarayanan, Urisman, Anatoly, Drew, Matthew, Esposito, Dominic, Scheffzek, Klaus, Nissley, Dwight V, McCormick, Frank, Simanshu, Dhirendra K

المصدر: Cell reports. 32(3)

مصطلحات موضوعية: K562 Cells, Humans, Neurofibromatosis 1, Cafe-au-Lait Spots, Epidermal Growth Factor, Adaptor Proteins, Signal Transducing, Neurofibromin 1, Guanosine Triphosphate, DNA Mutational Analysis, Signal Transduction, Amino Acid Sequence, Catalytic Domain, Protein Binding, Phosphorylation, Point Mutation, Oncogenes, Proto-Oncogene Proteins p21(ras), HEK293 Cells, Protein Interaction Maps, ErbB Receptors, Protein Domains, Legius syndrome, RAS-RAF-ERK pathway, RASopathy, RasGAP, neurofibromatosis type 1, Cancer, Rare Diseases, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Aetiology, Underpinning research, Generic health relevance, Biochemistry and Cell Biology, Medical Physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/88c9x228
https://escholarship.org/content/qt88c9x228/qt88c9x228.pdf

المؤلفون: F.J. García-Martínez, A. Hernández-Martín

المصدر: Actas Dermo-Sifiliográficas, Vol 114, Iss 3, Pp 187-193 (2023)

مصطلحات موضوعية: Neurofibromatosis type 1, Cafe-au-lait spots, Skin fold freckling, Nevus anemicus, Juvenile xanthogranuloma, Diagnostic criteria, Dermatology, RL1-803, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S000173102200922X; https://doaj.org/toc/0001-7310

URL الوصول: https://doaj.org/article/11dbdb81e49844b28e7658ac0a947cad

المؤلفون: Fernandez, Karen S, Turski, Michelle L, Shah, Avanthi Tayi, Bastian, Boris C, Horvai, Andrew, Hardee, Steven, Sweet-Cordero, E Alejandro

المصدر: Cold Spring Harbor molecular case studies. 5(5)

مصطلحات موضوعية: Ewing's sarcoma, multiple cafe-au-lait spots, neurofibromas, Ewings sarcoma

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6dq2j9br

المؤلفون: EKER, Nursah, TOKUC, Ayse Gulnur, TUFAN, Burcu TAS, SENAY, Emel

المصدر: Marmara Medical Journal; May2023, Vol. 36 Issue 2, p192-196, 5p

مصطلحات موضوعية: OPTIC nerve diseases, CLINICS, GENETIC testing, DISEASES, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease)

المؤلفون: KILIC, Mehmet, GUNBEY, Omer, TASKIN, Erdal, DAG, Bunyamin, KUCUK, Elif, GUNBEY, Fatma Betul, SEN, Askin

المصدر: Asthma Allergy Immunology / Astim Allerji Immunoloji; Apr2023, Vol. 21 Issue 1, p3-10, 8p

مصطلحات موضوعية: CLINICAL pathology, ATAXIA telangiectasia, NEVUS, RETROSPECTIVE studies, NEUTROPENIA, HYPOPIGMENTATION, EOSINOPHILIA, LYMPHOPENIA, CAFE-au-Lait spots (Disease)

المؤلفون: Garcia Neto, Victor, Almeida Jr, Hiram Larangeira de, Lorea, Claúdia Fernandes, Jorge, Valéria Magalhães, Almeida, Antônia Larangeira de

المصدر: Anais Brasileiros de Dermatologia. February 2022 97(1)

مصطلحات موضوعية: Cafe-au-lait spots, Fibrous dysplasia, polyostotic, Microscopy, electron, transmission

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962022000100058

المؤلفون: Victor Garcia Neto, Hiram Larangeira de Almeida Jr, Claúdia Fernandes Lorea, Valéria Magalhães Jorge, Antônia Larangeira de Almeida

المصدر: Anais Brasileiros de Dermatologia, Vol 97, Iss 1, Pp 58-62 (2022)

مصطلحات موضوعية: Cafe-au-lait spots, Fibrous dysplasia, polyostotic, Microscopy, electron, transmission, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962022000100058&tlng=en; https://doaj.org/toc/0365-0596

URL الوصول: https://doaj.org/article/a6d39b232ab94938b3fa659231bdeaaf

المؤلفون: Thangamani M., P., Priyadharshini, Dharani E.

المصدر: International Journal of Reproduction, Contraception, Obstetrics and Gynecology; Vol. 12 No. 3 (2023): March 2023; 763-766 ; 2320-1789 ; 2320-1770

مصطلحات موضوعية: McCune Albright syndrome, Precocious puberty, Polyostotic fibrous dysplasia, Café au lait spots

وصف الملف: application/pdf

Relation: https://www.ijrcog.org/index.php/ijrcog/article/view/12604/7858; https://www.ijrcog.org/index.php/ijrcog/article/view/12604

الاتاحة: https://www.ijrcog.org/index.php/ijrcog/article/view/12604
https://doi.org/10.18203/2320-1770.ijrcog20230530

المؤلفون: N. Dukuze, P. Sesonga, B. Iradukunda, H. irere, J. Ndinkabandi, C. Nsanzabaganwa, F. Rutagarama, C. Kagimbana, A. Uwineza, L. Mutesa

المصدر: Rwanda Medical Journal, Vol 80, Iss 2, Pp 8-12 (2023)

مصطلحات موضوعية: neurofibromatosis, gene mutation, clinical presentation, café au lait spots, neurofibromas, case report, Medicine

Relation: https://www.rwandamedicaljournal.org/uploads/1/2/2/1/122149944/nf1.pdf; https://doaj.org/toc/2079-097X; https://doaj.org/toc/2410-8626; https://doaj.org/article/48e6c2f0141d476a89f3f80d3c4adac1

الاتاحة: https://doaj.org/article/48e6c2f0141d476a89f3f80d3c4adac1

المؤلفون: Sakaniva, Vittória Christina Fátima Dias, Gringo, Caroline Paula Oliveira, Yaedú, Renato Yassutaka Faria, Pagin, Otavio

المصدر: Oral Radiology; Oct2022, Vol. 38 Issue 4, p645-650, 6p

مصطلحات موضوعية: MENTAL foramen, PROFESSIONS, MANDIBLE, DENTISTS, DENTAL radiography, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease)

المؤلفون: Cao, H, Alrejaye, N, Klein, OD, Goodwin, AF, Oberoi, S

المصدر: Orthodontics and Craniofacial Research. 20(S1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Genetics, Pediatric, Congenital Structural Anomalies, Brain Disorders, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Clinical Research, Rare Diseases, Neurosciences, Neurofibromatosis, 2.1 Biological and endogenous factors, Congenital, Arteriovenous Malformations, Cafe-au-Lait Spots, Capillaries, Costello Syndrome, Craniofacial Abnormalities, Ectodermal Dysplasia, Facies, Failure to Thrive, Germ-Line Mutation, Heart Defects, Congenital, Humans, LEOPARD Syndrome, MAP Kinase Signaling System, Neurofibromatosis 1, Noonan Syndrome, Port-Wine Stain, ras Proteins, craniofacial development, dental anomalies, malocclusion, Ras, MAPK pathway, RASopathy, Ras/MAPK pathway

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6pp9q732
https://escholarship.org/content/qt6pp9q732/qt6pp9q732.pdf

المؤلفون: Jeanne Ramspacher, Virginie Carmignac, Pierre Vabres, Juliette Mazereeuw-Hautier

المصدر: Acta Dermato-Venereologica, Vol 102 (2022)

مصطلحات موضوعية: Becker's Nevus Syndrome, Breast Hypoplasia, ACTB gene, Cafe au lait spots, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://medicaljournalssweden.se/actadv/article/view/1141; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/35c4e506e202456698ea75f2a66e0c1a

المؤلفون: Eva Pinti, Krisztina Nemeth, Krisztina Staub, Anna Lengyel, Gyorgy Fekete, Iren Haltrich

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Neurofibromatosis 1, Cafe-au-Lait spots, Neurofibroma, Child, National Institutes of Health (U.S.), Early diagnosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/54d94e95ccb64090a455ef5bfc976946

المؤلفون: Begül Yağcı-küpeli, Şule Çalışkan Kamış

المصدر: Cukurova Medical Journal, Vol 46, Iss 2, Pp 646-653 (2021)

مصطلحات موضوعية: nörofibromatozis tip 1, fenotip, cafe-au-lait lekeleri, neurofibromatosis type 1, phenotype, cafe-au-lait spots, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://dergipark.org.tr/tr/download/article-file/1565070; https://doaj.org/toc/2602-3040

URL الوصول: https://doaj.org/article/8568f4c787074d29acf13e4bfe595c16