نتائج البحث

1

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1

المؤلفون: Marco Marangoni, Ralph Wenzel, Victor-Felix Mautner, Said Farschtschi, Manraj K.S. Heran, Patricia Birch, Jan M. Friedman, Laura Sellmer

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

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Optic Nerve Glioma, musculoskeletal diseases, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Optic pathway glioma, Optic chiasm, lcsh:Medicine, Asymptomatic, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Glioma, medicine, Humans, Adults, Pharmacology (medical), Young adult, Neurofibromatosis, Child, Children, Genetics (clinical), medicine.diagnostic_test, business.industry, Research, lcsh:R, Infant, Newborn, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Female, Radiology, Optic nerve glioma, medicine.symptom, business, Cohort study, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f256e54843d03b4cedc8d6ef0fc0fb4Test
http://link.springer.com/article/10.1186/s13023-018-0811-9Test

2

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

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

3

Constipation in adults with neurofibromatosis type 1

المؤلفون: Annette Haagerup, Cecilie Ejerskov, Janne Fassov, Klaus Krogh, John R. Østergaard

المصدر: Orphanet Journal of Rare Diseases
Ejerskov, C, Krogh, K, Ostergaard, J R, Fassov, J L & Haagerup, A 2017, ' Constipation in adults with neurofibromatosis type 1 ', Orphanet Journal of Rare Diseases, vol. 12, no. 1, 139 . https://doi.org/10.1186/s13023-017-0691-4Test
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Functional dyspepsia, Constipation, Neurofibromatosis 1, Adolescent, Gastrointestinal Diseases, Functional gastrointestinal disorders, lcsh:Medicine, Disease, Logistic regression, Irritable Bowel Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, Internal medicine, Surveys and Questionnaires, Journal Article, medicine, Humans, Pharmacology (medical), Neurofibromatosis, Dyspepsia, Genetics (clinical), Irritable bowel syndrome, High prevalence, business.industry, Research, lcsh:R, General Medicine, Odds ratio, Middle Aged, medicine.disease, Self-report questionnaire, 030104 developmental biology, Logistic Models, Functional constipation, 030211 gastroenterology & hepatology, Female, medicine.symptom, business, Neurofibromatosis type 1, Rome criteria

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c05d9422531ea78bd53201dc47c04a7Test
http://europepmc.org/articles/PMC5559807Test

4

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

المؤلفون: Anna Tylki-Szymańska, Ladislav Kuchar, Ekaterina Zakharova, Galina Baydakova, Agnieszka Ługowska, Patryk Lipiński

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Hepatosplenomegaly, lcsh:Medicine, Disease, 030105 genetics & heredity, Gastroenterology, Exon, 0302 clinical medicine, Pharmacology (medical), Acid sphingomyelinase, Child, Genetics (clinical), education.field_of_study, Homozygote, Interstitial lung disease, Lysosphingomyelin-509, General Medicine, Exons, Niemann-Pick Disease, Type A, Hexosaminidases, Sphingomyelin Phosphodiesterase, Child, Preschool, Sphingomyelin phosphodiesterase 1, Female, medicine.symptom, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Lysosphingomyelin, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, education, Chitotriosidase, business.industry, Research, lcsh:R, Infant, Heterozygote advantage, medicine.disease, Chronic visceral acid sphingomyelinase deficiency, Mutation, Poland, business, 030217 neurology & neurosurgery, Dyslipidemia, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff1cbbab122608b022b71b1ef0710a8Test
https://pubmed.ncbi.nlm.nih.gov/30795770Test

5

Selective cognitive and psychiatric manifestations in Wolfram Syndrome

المؤلفون: Allison N, Bischoff, Angela M, Reiersen, Anna, Buttlaire, Amal, Al-Lozi, Tasha, Doty, Bess A, Marshall, Tamara, Hershey, K, Semenkovich

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Wolfram syndrome, Intelligence, Development, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cognition, Diabetes mellitus, Memory, Medicine, Humans, Genetics(clinical), Pharmacology (medical), Effects of sleep deprivation on cognitive performance, Young adult, Psychiatry, Child, Genetics (clinical), 030304 developmental biology, Medicine(all), 0303 health sciences, Type 1 diabetes, Behavior, business.industry, Research, General Medicine, Verbal reasoning, medicine.disease, 3. Good health, Smell, Diabetes Mellitus, Type 1, Anxiety, Female, Psychiatric interview, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b5cc66001510bde4eca9ac835bb385fTest
https://pubmed.ncbi.nlm.nih.gov/26025012Test

6

Nation-wide epidemiological study of Japanese patients with rare viral myelopathy using novel registration system (HAM-net)

المؤلفون: Naoko Yagishita, Ariella Coler-Reilly, Ayako Takata, Eisuke Inoue, Tomoo Sato, Natsumi Araya, Yoshihisa Yamano, Hiroko Suzuki

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, OMDS, Registry, medicine.medical_specialty, Pediatrics, Constipation, Blood transfusion, medicine.medical_treatment, Family history, Disease, Lymphoma, T-Cell, Spinal Cord Diseases, 03 medical and health sciences, Myelopathy, 0302 clinical medicine, Japan, immune system diseases, Tropical spastic paraparesis, Epidemiology, medicine, Humans, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Aged, Retrospective Studies, Medicine(all), Human T-lymphotropic virus 1, business.industry, Research, virus diseases, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Paraparesis, Tropical Spastic, HAQ-DI, 030104 developmental biology, HTLV-1, Female, medicine.symptom, HAM/TSP, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::195072f06d89e42827c8b424a5d294ccTest
https://doi.org/10.1186/s13023-016-0451-xTest

7

The Schnitzler syndrome

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

8

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

المؤلفون: Fransiska Malfait, Anne De Paepe, Sheela Nampoothiri, Yolanda Gyftodimou, Vanesa López-González, Michael B. Petersen, Nathalie Goemans, Geert Mortier, Sofie Symoens, Eva Holmberg

المصدر: Orphanet journal of rare diseases
Malfait, F, Symoens, S, Goemans, N, Gyftodimou, Y, Holmberg, E, López-González, V, Mortier, G, Nampoothiri, S, Petersen, M B & De Paepe, A 2013, ' Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome ', Orphanet Journal of Rare Diseases, vol. 8, pp. 78 . https://doi.org/10.1186/1750-1172-8-78Test
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES

مصطلحات موضوعية: Male, COL1A2, ADULTHOOD, DOMAIN, Arterial fragility, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), ARTHROCHALASIA TYPE, Fibrillogenesis, Procollagen N-Endopeptidase, Overlap syndrome, General Medicine, Osteogenesis Imperfecta, Phenotype, Osteogenesis imperfecta, END, Female, medicine.symptom, Type I collagen, Procollagen, Adult, medicine.medical_specialty, Genotype, PROCOLLAGEN N-PROTEINASE, Short stature, Collagen Type I, Internal medicine, medicine, Humans, business.industry, Research, Biology and Life Sciences, medicine.disease, GENE, VIIA, Peptide Fragments, Collagen Type I, alpha 1 Chain, Procollagen peptidase, Endocrinology, DEFECT, Ehlers–Danlos syndrome, Mutation, CHAIN, Ehlers-Danlos Syndrome, Human medicine, business

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca3d0d8c88ea8ee888d4486667a3888Test
https://hdl.handle.net/10067/1090000151162165141Test

9

Non-optic glioma in adults and children with neurofibromatosis 1

المؤلفون: Marco Marangoni, Ralph Wenzel, Manraj K.S. Heran, Said Farschtschi, Laura Sellmer, Victor-Felix Mautner, Jan M. Friedman, Patricia Birch

المصدر: Orphanet Journal of Rare Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a841ed40e6ddf36eeb5bf13f737d9a4aTest

10

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

المؤلفون: Freya Swinnen, Mauro Celli, Paul Coucke, Filomena Valentina Gentile, Luca Sangiorgi, Sofie Symoens, Els De Leenheer, Ton J. T. M. Garretsen, Patrizia D'Eufemia, Ingeborg Dhooge, Cor W. R. J. Cremers, Anne De Paepe, Fransiska Malfait

المصدر: ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 88 (2011)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, COL1A1, COL1A2, lcsh:Medicine, Audiology, Belgium, Risk Factors, Genotype, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Young adult, Child, MUTATION, Genetics (clinical), Netherlands, Aged, 80 and over, Medicine(all), medicine.diagnostic_test, General Medicine, Middle Aged, Osteogenesis Imperfecta, Phenotype, col1a1, col1a2, genotype-phenotype correlation, hearing loss, osteogenesis imperfecta, Conductive hearing loss, Italy, Osteogenesis imperfecta, Child, Preschool, Sensorineural hearing loss, Female, medicine.symptom, MEMBERS, Adult, medicine.medical_specialty, Adolescent, Hearing loss, I COLLAGEN, Collagen Type I, Young Adult, Audiometry, medicine, otorhinolaryngologic diseases, Humans, Aged, business.industry, Research, HEARING-LOSS, lcsh:R, medicine.disease, Collagen Type I, alpha 1 Chain, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2684bb2c1d4746d283e3420b0b5e8bd5Test

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