المؤلفون: Giorgia Bruno, Simone Sampaolo, U Barillari, Filippo M. Santorelli, Teresa Esposito, Filomena Napolitano, Claudia Nesti, Mariarosa A. B. Melone, Chiara Terracciano, Maria Rosaria Barillari

المساهمون: Napolitano, F, Terracciano, C, Bruno, G, Nesti, C, Barillari, Mr, Barillari, U, Santorelli, Fm, Melone, Mab, Esposito, T, Sampaolo, S

المصدر: American journal of medical genetics
(2019). doi:10.1002/ajmg.a.61381
info:cnr-pdr/source/autori:Napolitano F, Terracciano C, Bruno G, Nesti C, Barillari MR, Barillari U, Santorelli FM, Melone MAB, Esposito T, Sampaolo S./titolo:Intrafamilial "DOA-plus" phenotype variability related to different OMI%2FHTRA2 expression./doi:10.1002%2Fajmg.a.61381/rivista:American journal of medical genetics (Print)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: Adult, OMI/HTRA2 molecular studies, OPA1 gene and mutation analysis, dominant optic atrophy and deafness (DOAD), phenotype intrafamilial variability, "DOAplus" phenotype, Ophthalmoplegia, Chronic Progressive External, Deafness, Biology, “DOAplus” phenotype, medicine.disease_cause, GTP Phosphohydrolases, Atrophy, Muscular Diseases, Optic Atrophy, Autosomal Dominant, Genetics, medicine, Humans, Genetic Predisposition to Disease, Myopathy, OMI/HTRA2 molecular studie, Gene, Pathological, Genetics (clinical), Mutation, Peripheral Nervous System Diseases, High-Temperature Requirement A Serine Peptidase 2, Middle Aged, medicine.disease, Phenotype, eye diseases, Mitochondria, Pedigree, Peripheral neuropathy, Gene Expression Regulation, OPA1 gene and mutation analysi, Female, Cerebellar atrophy, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392779b482c1f916a2c1e4c7246ce1fd
https://doi.org/10.1002/ajmg.a.61381

المؤلفون: Lorenzo Rizzo, Maria Luisa Moleti, Anna Maria Testi, Nadia Vacca, Francesco Malaspina, Franco Locatelli, Roberta Burnelli, Maria Caterina Putti, Fiorina Giona, Andrea Biondi, Simona Bianchi, Rosamaria Mura, Saverio Ladogana, Giuseppe Saglio, Robin Foà

المساهمون: Giona, F, Malaspina, F, Putti, M, Ladogana, S, Mura, R, Burnelli, R, Vacca, N, Rizzo, L, Bianchi, S, Moleti, M, Testi, A, Biondi, A, Locatelli, F, Saglio, G, Foa, R

مصطلحات موضوعية: Male, Schedule, Pediatrics, medicine.medical_specialty, Adolescent, Paediatric haematology, chronic myeloid leukaemia, Antineoplastic Agents, Chronic myeloid leukaemia, Outcome (game theory), molecular studies, Chronic leukaemia, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, imatinib, paediatric haematology, therapy, molecular studie, Medicine, Humans, Child, business.industry, Imatinib, Hematology, Treatment Outcome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Imatinib Mesylate, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb633336462221b653ace4807546e475
http://hdl.handle.net/11573/1364771

مصطلحات الفهرس: chronic leukaemia, chronic myeloid leukaemia, imatinib, molecular studie, paediatric haematology, therapy, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/271093
info:eu-repo/semantics/altIdentifier/pmid/32087030
info:eu-repo/semantics/altIdentifier/wos/WOS:000519776700008
volume:188
issue:6
firstpage:e101
lastpage:e105
journal:BRITISH JOURNAL OF HAEMATOLOGY