يعرض 1 - 10 نتائج من 14 نتيجة بحث عن '"Merit Lamp"', وقت الاستعلام: 1.25s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy 'in disguise'

    المؤلفون: Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich

    المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)

    مصطلحات موضوعية: TTR, CMT2, Polyneuropathy, Medicine

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s13023-018-0917-0; https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/4509454bec4c439ba3f27087587eae9e

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  2. 2
    A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

    المؤلفون: Paola Mandich, Paola Origone, Emilia Bellone, Giuseppina Fugazza, Alessandro Geroldi, Federica Morani, Anna Rubegni, Claudia Nesti, Filippo M. Santorelli, Lucia Trevisan, Sabrina Fabbri, Fabio Gotta, Merit Lamp

    مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Ataxia, Genetic counseling, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutation, Missense, Gene mutation, Compound heterozygosity, sensorineural hearing loss, Mitochondrial Proteins, 03 medical and health sciences, Sensory ataxia, Genetics, medicine, Humans, Amino Acid Sequence, Twinkle, Genetics (clinical), 030304 developmental biology, Neuropathy, ovarian dysgenesis, Perrault syndrome, sensorineural hearing loss, Twinkle, TWNK, 0303 health sciences, ovarian dysgenesis, Perrault syndrome, medicine.diagnostic_test, business.industry, neuropathy, TWNK, 030305 genetics & heredity, DNA Helicases, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Neuropathy, Peripheral neuropathy, Mutation, Sensorineural hearing loss, Female, Pure tone audiometry, medicine.symptom, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b6a1cb386ec34001553053478bea4c
    http://hdl.handle.net/11567/1006329

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  3. 3
    Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

    المؤلفون: Fabio Gotta, Paola Mandich, Fiore Manganelli, Alessandro Geroldi, Emilia Bellone, Francesca Sanguineri, Claudia Caponnetto, Corrado Cabona, Lucia Trevisan, Grazia Devigili, Paola Origone, Merit Lamp

    المصدر: Neurodegenerative Diseases. 18:310-314

    مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Mutation, business.industry, SOD1, Disease, Motor neuron, medicine.disease, medicine.disease_cause, TARDBP, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Neurology, C9orf72, Internal medicine, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, Frontotemporal dementia

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3fde2b66a86e92e6d6962017abfefb0
    https://doi.org/10.1159/000497820

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  4. 4
    1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

    المؤلفون: Merit Lamp, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Ariela Iacometti, Fabio Gotta, Paola Mandich, Rossella Gulli, Giovanna Ferrandes

    المصدر: Molecular Genetics & Genomic Medicine

    مصطلحات موضوعية: Counseling, 0301 basic medicine, medicine.medical_specialty, predictive testing, Disease, 030105 genetics & heredity, Unit (housing), 03 medical and health sciences, Huntington's disease, Genetics, medicine, Predictive testing, Psychiatry, Molecular Biology, Genetics (clinical), Protocol (science), business.industry, Original Articles, Geneticist, medicine.disease, Test (assessment), integrated protocol, Family medicine, Medical genetics, Original Article, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac7fe1ce376152db7bd751f9160799b
    https://doi.org/10.1002/mgg3.238

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  5. 5
    Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy 'in disguise'

    المؤلفون: Emilia Bellone, Stefano Tozza, Sabrina Fabbri, Chiara Gemelli, Lucia Trevisan, Fabio Gotta, Paola Origone, Marina Grandis, Lucio Santoro, Fiore Manganelli, Alessandro Geroldi, Merit Lamp, Paola Mandich, Rossella Gulli, Angelo Schenone

    المساهمون: Grandis, Marina, Geroldi, Alessandro, Gulli, Rossella, Manganelli, Fiore, Gotta, Fabio, Lamp, Merit, Origone, Paola, Trevisan, Lucia, Gemelli, Chiara, Fabbri, Sabrina, Schenone, Angelo, Tozza, Stefano, Santoro, Lucio, Bellone, Emilia, Mandich, Paola

    المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)
    Orphanet Journal of Rare Diseases

    مصطلحات موضوعية: Male, Axonal neuropathy, endocrine system, medicine.medical_specialty, Systemic disease, lcsh:Medicine, 030204 cardiovascular system & hematology, TTR, 03 medical and health sciences, 0302 clinical medicine, Polyneuropathy, Humans, Medicine, Genetic Predisposition to Disease, Pharmacology (medical), Letter to the Editor, Genetics (clinical), CMT2, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, CMT2, Polyneuropathy, TTR, Genetics (clinical), Pharmacology (medical), lcsh:R, nutritional and metabolic diseases, General Medicine, Middle Aged, medicine.disease, Dermatology, Italian population, Transthyretin, Mutation, Cohort, biology.protein, Female, business, 030217 neurology & neurosurgery, Red flags

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae38d28966c2b4f586ccb5b71641580d
    https://doi.org/10.1186/s13023-018-0917-0

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  6. 6
    Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

    المؤلفون: Davide Massucco, Federico Massa, Flavia Ticconi, Paola Mandich, Matteo Grazzini, Giovanni Abbruzzese, Lucia Trevisan, Fabio Gotta, Alessandro Geroldi, Roberta Marchese, Matteo Bauckneht, Paola Origone, Merit Lamp, Emilia Bellone

    المصدر: Cerebellum & Ataxias
    Cerebellum & Ataxias, Vol 5, Iss 1, Pp 1-5 (2018)

    مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Movement disorders, Case Report, lcsh:RC346-429, Dysdiadochokinesia, 03 medical and health sciences, 0302 clinical medicine, Dysmetria, mental disorders, Medicine, Allele, lcsh:Neurology. Diseases of the nervous system, Genetics, Dystonia, Incomplete penetrance, business.industry, Parkinsonism, Spinocerebellar ataxia, TBP gene, SCA17, Incomplete penetrance, medicine.disease, Penetrance, nervous system diseases, SCA17, 030104 developmental biology, Spinocerebellar ataxia, Neurology (clinical), TBP gene, medicine.symptom, business, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0995d3bbdff5d05af3d32e26de8711
    http://europepmc.org/articles/PMC5852964

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  7. 7
    Survivin promoter polymorphisms and autoantibodies in endometriosis

    المؤلفون: Andres Salumets, Helle Karro, Maire Peters, Raivo Uibo, Merli Saare, Merit Lamp, Ülle Kadastik

    المصدر: Journal of Reproductive Immunology. 96:95-100

    مصطلحات موضوعية: Adult, Estonia, medicine.medical_specialty, Survivin, Immunology, Population, Endometriosis, Single-nucleotide polymorphism, Inhibitor of apoptosis, Gastroenterology, Group A, Inhibitor of Apoptosis Proteins, Young Adult, Risk Factors, Internal medicine, medicine, Humans, Immunology and Allergy, Promoter Regions, Genetic, education, Genetic Association Studies, Autoantibodies, education.field_of_study, Polymorphism, Genetic, biology, business.industry, Smoking, Autoantibody, Obstetrics and Gynecology, medicine.disease, Reproductive Medicine, biology.protein, Cancer research, Female, Antibody, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::657222445623abb1bb0ba21c24ddd2ac
    https://doi.org/10.1016/j.jri.2012.10.001

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  8. 8
    Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance

    المؤلفون: Emilia Bellone, Paola Origone, Merit Lamp, Fabio Gotta, Grazia Devigili, Alessandro Geroldi, Rossella Gulli, Carlo Sabbà, Patrizia Lastella, Paola Mandich, Margherita Patruno, Nicoletta Resta

    المصدر: Neuromuscular disorders : NMD. 27(4)

    مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Neurology, Adolescent, Genetic counseling, MFN2, Disease, Biology, Compound heterozygosity, Bioinformatics, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Genetics (clinical), Genetics, Inheritance (genetic algorithm), Major gene, Phenotype, Pedigree, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03bca1b96489769f86ec6d3ed393062b
    https://pubmed.ncbi.nlm.nih.gov/28215760

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  9. 9
    Polymorphisms in MMP-2 and MMP-9 promoter regions are associated with endometriosis

    المؤلفون: Merli Saare, Andres Metspalu, Andres Salumets, Helle Karro, Ülle Kadastik, Merit Lamp, Maire Peters, Tanel Kaart

    المصدر: Fertility and Sterility. 94:1560-1563

    مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Genetic Linkage, Endometriosis, Matrix metalloproteinase, Young Adult, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Uterine Diseases, Polymorphism, Genetic, business.industry, Haplotype, Obstetrics and Gynecology, Promoter, Middle Aged, medicine.disease, Endocrinology, Matrix Metalloproteinase 9, Reproductive Medicine, Case-Control Studies, Cancer research, Matrix Metalloproteinase 2, Female, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cfec79cfe635cd8c8c865da72b942b
    https://doi.org/10.1016/j.fertnstert.2009.12.024

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  10. 10
    Quiz page February 2015: renal colic in an adolescent

    المؤلفون: Giorgina B, Piccoli, Marco A, Cimmino, Merit, Lamp, Fabio, Gotta, Federica N, Vigotti, Adriano M, Priola, Andrea, Veltri, Paola, Mandich

    مصطلحات موضوعية: Male, Hypoxanthine Phosphoribosyltransferase, Adolescent, Gout, Humans, Renal Colic, Pedigree

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a9923ab70197ea345dd80ed319171acc
    http://hdl.handle.net/2318/156219

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