نتائج البحث - "New mutation"

1

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease

المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test

2

P0077A NEW MUTATION OF DNAJB11 AS A CAUSE OF CYSTIC KYDNEY DISEASE: THE FOURTH GENE OF ADPKD

المؤلفون: Lucio Manenti, Micaela Gentile, Viviana Palazzo, Enrico Fiaccadori, Sabrina Giglio, Isabella Pisani, Marco Allinovi

المصدر: Nephrology Dialysis Transplantation. 35

مصطلحات موضوعية: Genetics, Transplantation, Nephrology, business.industry, New mutation, Medicine, Disease, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0121d195c8c4f55e6e2ce64446f67e3dTest
https://doi.org/10.1093/ndt/gfaa142.p0077Test

3

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

المؤلفون: Juana Pelegrín Díaz, Lorenzo Montserrat Iglesias, Ariadna Ayerza Casas, Esther Aurensanz Clemente, Cecilia García Lasheras, Feliciano Jesús Ramos Fuentes, Inés Bueno Martínez, Pablo Ruiz Frontera

المصدر: Clinical Case Reports

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c804ae18eccc8af82b059e067e42b4fTest
https://doi.org/10.1002/ccr3.832Test

4

Are we ready to genetically modify a human embryo? Or is it too late to ask?

المؤلفون: Ana S. Iltis, Kirstin R.W. Matthews

المصدر: Accountability in research. 26(4)

مصطلحات موضوعية: Gene Editing, media_common.quotation_subject, education, Efficacy research, General Medicine, Disease, Library and Information Sciences, Embryo, Mammalian, Morals, Education, New mutation, Ethical concerns, Humans, Engineering ethics, Conversation, Genetically modify, Public engagement, Psychology, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3012cfa0bcd4820551c5be2ce9815f6bTest
https://pubmed.ncbi.nlm.nih.gov/31075045Test

5

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona

المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51Test
https://pubmed.ncbi.nlm.nih.gov/29618358Test

6

New mutation in a young woman diagnosed with Niemann–Pick disease type C

المؤلفون: María J. Coll, Santiago Gil, Emilio Ojeda, Pilar Alfonso, Ana Rodríguez-Villa Lario, Carlos de Miguel

المصدر: Medicina Clínica (English Edition). 146:494-496

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Pathology, Niemann–Pick disease, type C, business.industry, Disease, medicine.disease, stomatognathic diseases, 03 medical and health sciences, 030104 developmental biology, Molecular genetics, Mutation (genetic algorithm), New mutation, otorhinolaryngologic diseases, medicine, NPC1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d83638cfbd68c384328af26cc3c89fdbTest
https://doi.org/10.1016/j.medcle.2016.07.003Test

7

Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family

المؤلفون: Jia Li, Tianji Shi, Jiajun Chen, Cheng Tan

المصدر: Medicine

مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, hereditary diffuse leukoencephalopathy, new mutation site, Disease, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, Dementia, Clinical Case Report, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, genetic family trees, High-Throughput Nucleotide Sequencing, Magnetic resonance imaging, General Medicine, medicine.disease, Hyperintensity, Pedigree, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), business, Research Article, HDLS, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d1ac0b720f42230c18a05e939d4064Test
https://doi.org/10.1097/md.0000000000015802Test

8

Descriptively probabilistic relationship between mutated primary structure of von Hippel-Lindau protein and its clinical outcome

المؤلفون: Shaomin Yan, Guang Wu

المصدر: Journal of Biomedical Science and Engineering. :190-199

مصطلحات موضوعية: endocrine system diseases, business.industry, Protein primary structure, Probabilistic logic, Disease, Von hippel lindau, urologic and male genital diseases, Bioinformatics, female genital diseases and pregnancy complications, Outcome (probability), New mutation, Mutation (genetic algorithm), Medicine, cardiovascular diseases, business, neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1451a3fb8c90a96ed440488746849592Test
https://doi.org/10.4236/jbise.2009.23032Test

9

A New Mutation in Blau Syndrome

المؤلفون: Davut Gül, Gokalp Basbozkurt, Cengiz Zeybek, Faysal Gok, Erkan Demirkaya

المصدر: Case Reports in Rheumatology
Case Reports in Rheumatology, Vol 2015 (2015)

مصطلحات موضوعية: medicine.medical_specialty, Recurrent uveitis, lcsh:Diseases of the musculoskeletal system, business.industry, Case Report, General Medicine, Disease, Gene mutation, medicine.disease, Bioinformatics, Dermatology, Male patient, New mutation, medicine, Autoinflammatory disease, lcsh:RC925-935, Granulomatous Dermatitis, business, Blau syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2991bf167d02e49f78b7dc33805d2237Test
http://europepmc.org/articles/PMC4322824Test

10

When disease strikes from nowhere

المؤلفون: Vivien Marx

المصدر: Nature. 513(7518)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672ab55a9639835748232b61663637ceTest
https://pubmed.ncbi.nlm.nih.gov/25230666Test

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