نتائج البحث - "New mutation"

المساهمون: Centre de recherche en Biologie Cellulaire (CRBM), Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), St Petersburg State University (SPbU)

المصدر: Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience, Frontiers Media, 2019, 12, pp.274. ⟨10.3389/fnmol.2019.00274⟩
Frontiers in Molecular Neuroscience, Vol 12 (2019)

مصطلحات موضوعية: 0301 basic medicine, Amyloid, In silico, [SDV]Life Sciences [q-bio], Saccharomyces cerevisiae, macromolecular substances, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, medicine.disease_cause, Fibril, lcsh:RC321-571, prion, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Molecular Biology, Inhibitory effect, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, ArchCandy, ComputingMilieux_MISCELLANEOUS, chemistry.chemical_classification, Mutation, biology, Chemistry, [PSI+], amyloid, SUP35 mutation, biology.organism_classification, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Amino acid, 030104 developmental biology, New mutation, Biophysics, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40b4b2ce532f3775bb300419ae6b4acbTest
https://hal.umontpellier.fr/hal-02414139/file/fnmol-12-00274.pdfTest

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Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene

المؤلفون: Alessandro Malandrini, Anna Rubegni, Maria Teresa Dotti, Teresa Anna Cantisani, Andrea Mignarri, Claudia Nesti, Antonio Federico, Niccola Funel, Elena Cardaioli, Filippo M. Santorelli

المصدر: Biochemical and Biophysical Research Communications. 500:158-162

مصطلحات موضوعية: Adult, 0301 basic medicine, Mitochondrial DNA, tRNATrp, Mitochondrial disease, Biophysics, Epilepsies, Myoclonic, Epilepsies, 030105 genetics & heredity, Biology, Trp, Biochemistry, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Retinitis pigmentosa, medicine, Humans, Genetic Predisposition to Disease, Vascular Calcification, Tomography, Molecular Biology, Genetics, Base Sequence, mtDNA, MT-TW gene, New mutation, DNA, Sequence Analysis, DNA, Cell Biology, RNA, Transfer, Trp, medicine.disease, Female, Mutation, Retinitis Pigmentosa, Tomography, X-Ray Computed, MT-TW, Heteroplasmy, X-Ray Computed, Transfer, Mitochondrial respiratory chain, Mutation (genetic algorithm), RNA, Myoclonic, Sequence Analysis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4908310ffbc2c194bdb0488778a5c4d4Test
https://doi.org/10.1016/j.bbrc.2018.04.009Test

10

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

المؤلفون: Panlai Shi, Conghui Wang, Rui Li, Xiangdong Kong

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Parents, copy number variations (CNVs), 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, lcsh:QH426-470, endocrine system diseases, 030105 genetics & heredity, Biology, CNV‐seq, Young Adult, 03 medical and health sciences, Fetus, Likely benign, Pregnancy, Gene Duplication, mental disorders, Gene duplication, Genetics, Humans, Clinical significance, Copy-number variation, Molecular Biology, Uncertain significance, Genetics (clinical), Likely pathogenic, parental origin, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Original Articles, clinical interpretation, lcsh:Genetics, 030104 developmental biology, New mutation, Amniocentesis, Female, Original Article, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acae10248934d7e1bd9aba8473dacba3Test
https://doi.org/10.1002/mgg3.944Test

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