المؤلفون: Jean-Marc Grégoire, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Anne-Marie Schmitt, Marlene Guiraud, Pierre Wolkenstein, Ignacio Blanco, Isabelle Rauly-Lestienne

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, Quality of life, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Adolescent, Future medication, lcsh:Medicine, Social burden, Social life, 03 medical and health sciences, Laser treatments, Young Adult, 0302 clinical medicine, Surveys and Questionnaires, Medicine, Humans, Pharmacology (medical), European Union, Community survey, Genetics (clinical), Aged, Motivation, Neurofibroma, Health professionals, business.industry, Research, lcsh:R, Cutaneous neurofibromas, General Medicine, Middle Aged, Therapeutic modalities, Patient community survey, Real-world experience, Mood, Current management, 030220 oncology & carcinogenesis, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbb1b2f09041fe797f753b1d30011d0Test
https://doaj.org/article/d66d2cf1a4c74bed92a3ce2b1f743acbTest

المؤلفون: Ashley Cannon, David T. Redden, Peng Li, Mei-Jan Chen, Amy Theos, Kevin P. Boyd, Bruce R. Korf

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, lcsh:Medicine, 030207 dermatology & venereal diseases, 03 medical and health sciences, Natural history study, 0302 clinical medicine, Quality of life, medicine, Humans, Pharmacology (medical), Neurofibromatosis, Genetics (clinical), Aged, Neurofibromatosis type I, Pregnancy, Neurofibroma, business.industry, Research, lcsh:R, Genetic disorder, Cutaneous neurofibromas, General Medicine, Middle Aged, medicine.disease, Dermatology, Natural history, Random effect modeling, Body region, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f7abb6577b488ff96541d987c392b5Test
http://link.springer.com/article/10.1186/s13023-018-0772-zTest

المؤلفون: Chahnez Triki, Lobna Trabelsi, Nacim Louhichi, Emna Bahloul, Nadia Mahfouth, Leila Keskes, Faiza Fakhfakh, Houda Ben Othman, Slaheddine Marrakchi, Hamida Turki, Zeineb Ayadi-Mnif, Kawthar Aloulou

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, endocrine system, Congenital ichthyosiform erythroderma, endocrine system diseases, Thyroid Gland, lcsh:Medicine, 030105 genetics & heredity, CDS, Lipid Metabolism, Inborn Errors, White matter, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Hypothyroidism, Parenchyma, medicine, Humans, Pharmacology (medical), Muscle, Skeletal, Genetics (clinical), Retrospective Studies, ABHD5 gene, Kidney, business.industry, Research, Thyroid disease, Homozygote, Thyroid, lcsh:R, Exons, General Medicine, 1-Acylglycerol-3-Phosphate O-Acyltransferase, Ichthyosiform Erythroderma, Congenital, Middle Aged, medicine.disease, C.773(− 1)G > A mutation, Introns, Splice site, medicine.anatomical_structure, Mutation, Female, Cerebellar atrophy, Thyroid function, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d18772a896c3eea43a1136447d58661Test
http://link.springer.com/article/10.1186/s13023-019-1095-4Test

المؤلفون: Juha Peltonen, Risto-Pekka Happonen, Sirkku Peltonen, Vivian Visnapuu, Lotta Alivuotila

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, Craniofacial alteration, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Mandibular canal, Periapical cemental dysplasia, lcsh:Medicine, Review, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Speech, Humans, Pharmacology (medical), In patient, Oral soft tissue, Tooth Developoment, Neurofibromatosis, Craniofacial, Child, Periapical Cemental dysplasia, Genetics (clinical), Aged, Dental age, business.industry, Periapical Diseases, Skull, lcsh:R, Mandible, Wide Mandibular Canal, 030206 dentistry, General Medicine, Middle Aged, University hospital, medicine.disease, Dermatology, medicine.anatomical_structure, Female, Abnormality, Mouth Diseases, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9de14b95de6f8b77e0f8dbdc052cf0Test
http://link.springer.com/article/10.1186/s13023-018-0881-8Test

المؤلفون: Roberto Eleopra, Alessandro Moro, Sara Rinaldo, Daniela Macor, Christian Lettieri, Michele De Filippo, Grazia Devigili, Andrea Dardis, Bruno Bembi, Giovanni Ciana

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Peripheral neuropathy, lcsh:Medicine, Neuropathic pain, Young Adult, 03 medical and health sciences, Bone pain, 0302 clinical medicine, Surveys and Questionnaires, Humans, Medicine, Pharmacology (medical), Child, Genetics (clinical), Skin, Small fibre neuropathy, Gaucher Disease, business.industry, Research, lcsh:R, Chronic pain, General Medicine, Enzyme replacement therapy, Hypoesthesia, Middle Aged, medicine.disease, Dermatology, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Pain Origin, Hyperalgesia, Gaucher type 1 disease, Neuralgia, Female, Chronic Pain, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859d05fc711f44fee13f4459c4a2e5f4Test
http://link.springer.com/article/10.1186/s13023-017-0700-7Test

المؤلفون: Machi Suka, Chikako Nishigori, Takashi Yamauchi, Hiroyuki Yanagisawa

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Databases, Factual, lcsh:Medicine, 030105 genetics & heredity, 03 medical and health sciences, Young Adult, Intractable rare disease, 0302 clinical medicine, Quality research, Japan, Medicine, Humans, Pharmacology (medical), In patient, Registries, Neurofibromatosis, Stage (cooking), Child, Genetics (clinical), Progression, business.industry, Incidence (epidemiology), Research, Incidence, Follow-up, lcsh:R, Disease progression, Infant, Newborn, Infant, Subsidy, General Medicine, Middle Aged, medicine.disease, National registry, Medical expense subsidies, Child, Preschool, Disease Progression, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ba4e4498d35e6c24fee0ccaeca8bcbTest
https://hdl.handle.net/20.500.14094/90006223Test

المؤلفون: Dan Lipsker

المساهمون: BMC, Ed., Biologie des Cellules Dendritiques Humaines, EFS-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Strasbourg], CHU Strasbourg, D. Lipsker has received a grant from the Société Française de Dermatologie to study the inflammatory pathways involved in the Schnitzler syndrome.

المصدر: Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 38 (2010)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2010, 5 (1), pp.38. ⟨10.1186/1750-1172-5-38⟩

مصطلحات موضوعية: MESH: Antirheumatic Agents, MESH: Exanthema, lcsh:Medicine, Spontaneous remission, [SDV.GEN] Life Sciences [q-bio]/Genetics, Review, MESH: Lymphoproliferative Disorders, AA amyloidosis, Genetics(clinical), Pharmacology (medical), Schnitzler Syndrome, Genetics (clinical), Skin, Medicine(all), MESH: Middle Aged, MESH: Genetic Predisposition to Disease, MESH: Schnitzler Syndrome, General Medicine, Middle Aged, Rash, MESH: Interleukin 1 Receptor Antagonist Protein, Schnitzler syndrome, Antirheumatic Agents, Female, medicine.symptom, medicine.drug, Adult, medicine.medical_specialty, Adolescent, MESH: Carrier Proteins, MESH: Skin, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Humans, Genetic Predisposition to Disease, Urticarial vasculitis, Bone pain, POEMS syndrome, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, Anakinra, MESH: Humans, business.industry, lcsh:R, MESH: Adult, Exanthema, medicine.disease, Dermatology, Lymphoproliferative Disorders, Interleukin 1 Receptor Antagonist Protein, Immunology, business, Carrier Proteins, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff5ecbc0b5d5eca2266e9d78c458a6eTest
http://www.ojrd.com/content/5Test/1/38