يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Hereditary sensory and autonomic neuropathy"', وقت الاستعلام: 0.65s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

    المؤلفون: Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela

    المصدر: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-11 (2017)

    مصطلحات موضوعية: Case report, Dental, PRDM12 gene, Hereditary sensory and autonomic neuropathy, HSAN-VIII, Oral manifestations, Medicine

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s13256-017-1387-zTest; https://doaj.org/toc/1752-1947Test

    الوصول الحر: https://doaj.org/article/45198129dc0b4286bd27fb2f758b9c41Test

    View record in DOAJ النص الكامل

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  2. 2
    Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

    المؤلفون: Theodosia Bartzela, Luitgard Graul-Neumann, Christian Finke, Karim Elhennawy, Paul-Georg Jost-Brinkmann, Seif Reda

    المصدر: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-11 (2017)
    Journal of Medical Case Reports

    مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Orthotic Devices, Time Factors, Adolescent, Pain Insensitivity, Congenital, DNA Mutational Analysis, lcsh:Medicine, Nerve Tissue Proteins, Disease, Dental Caries, medicine.disease_cause, Bone Infection, 03 medical and health sciences, Tooth Loss, 0302 clinical medicine, PRDM12 gene, Surgical oncology, Hereditary sensory and autonomic neuropathy type I, Hereditary sensory and autonomic neuropathy, Case report, medicine, Tooth loss, Humans, Genetic Predisposition to Disease, Oral manifestations, Hereditary Sensory and Autonomic Neuropathies, Mobility Limitation, Mutation, business.industry, lcsh:R, Mouth Mucosa, Infant, 030206 dentistry, General Medicine, medicine.disease, Dermatology, Orthotic device, Self Mutilation, Denture, Partial, Fixed, Dental, HSAN-VIII, medicine.symptom, business, Carrier Proteins, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a64c27b39eca10abc59fe23f7ab9bb5Test
    http://link.springer.com/article/10.1186/s13256-017-1387-zTest


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  3. 3
    A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

    المؤلفون: Fatemeh Fekrmandi, Afagh Alavi, Sareh Asadi, Abolhassan Ahmadiani, Behrouz Rahmani, Tannaz Ahadi, Keivan Ahadi

    المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)
    BMC Neurology

    مصطلحات موضوعية: 0301 basic medicine, Male, Nonsense mutation, Iran, lcsh:RC346-429, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, HSN2, Medicine, Humans, HSAN2, Gene, Exome sequencing, lcsh:Neurology. Diseases of the nervous system, Hereditary sensory and autonomic neuropathies, Genetics, Sanger sequencing, business.industry, Siblings, General Medicine, medicine.disease, Pedigree, 030104 developmental biology, Codon, Nonsense, Whole exome sequencing, WNK1 gene, Mutation (genetic algorithm), symbols, Allelic heterogeneity, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Research Article

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf9cee1996ad359a2729468d2eec19e9Test
    http://link.springer.com/article/10.1186/s12883-018-1201-6Test


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  4. 4
    Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

    المؤلفون: Rongni He, Wei Huang, Aiqun Lin, Yaowei Huang, Victor Wei Zhang, Yuying Su, Huifang Xie, Zhenxing Yan, Shaoyuan Li, Wenxia Zheng

    المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-4 (2018)
    BMC Neurology

    مصطلحات موضوعية: 0301 basic medicine, Adult, DNA (Cytosine-5-)-Methyltransferase 1, Exome sequencing, medicine.medical_specialty, Cerebellar Ataxia, Case Report, lcsh:RC346-429, 03 medical and health sciences, Exon, HSAN1E, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Molecular genetics, Hereditary sensory and autonomic neuropathy, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, lcsh:Neurology. Diseases of the nervous system, Genetics, Cerebellar ataxia, business.industry, DNMT1, General Medicine, Exons, DNA Methylation, medicine.disease, 030104 developmental biology, Phenotype, DNA methylation, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d18b843906ee5b08ca04dcf299a010Test
    http://link.springer.com/article/10.1186/s12883-018-1177-2Test


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