المؤلفون: Dragana Protic, Roberta Polli, Ye Hyun Hwang, Guadalupe Mendoza, Randi Hagerman, Blythe Durbin-Johnson, Bruce E. Hayward, Karen Usdin, Alessandra Murgia, Flora Tassone

المصدر: Cells, Vol 12, Iss 13, p 1711 (2023)

مصطلحات موضوعية: FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/12/13/1711Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/64f3f84992504e078c95bd3c3cb93529Test

المؤلفون: Bruce E. Hayward, Karen Usdin

المصدر: Genes, Vol 12, Iss 10, p 1633 (2021)

مصطلحات موضوعية: repeat mosaicism, chromosome fragility, repeat expansion, repeat contractions, aneuploidy, break induced replication (BIR), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/10/1633Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/a56c78286cae4660b19479a0c59c4e0cTest

المؤلفون: Tassone, Dragana Protic, Roberta Polli, Ye Hyun Hwang, Guadalupe Mendoza, Randi Hagerman, Blythe Durbin-Johnson, Bruce E. Hayward, Karen Usdin, Alessandra Murgia, Flora

المصدر: Cells; Volume 12; Issue 13; Pages: 1711

مصطلحات موضوعية: FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, methylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::ad621b5680de36f947b903c0e097c2e3Test

المؤلفون: Daman Kumari, Bruce E. Hayward, Karen Usdin, Antonia G. Vitalo, Ricardo Mouro Pinto, Xiao-Nan Zhao, Geum-Yi Kim, Carson J. Miller

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Ataxia, Somatic cell, Review, Biology, base excision repair, DNA Mismatch Repair, non-homologous end-joining, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, FMR1-associated disorders, Mice, 0302 clinical medicine, Huntington's disease, medicine, Huntingtin Protein, trinucleotide repeat instability, Animals, Humans, Genetics, Genes, Modifier, Fragile X-related disorders, Polyglutamine tract, medicine.disease, mismatch repair, 030104 developmental biology, Huntington Disease, Friedreich ataxia, Fragile X Syndrome, double-strand break repair, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, Huntington’s disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f399a5de4f0187afd3e05d67e00613beTest
http://europepmc.org/articles/PMC7990428Test

المؤلفون: Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan

المصدر: PLoS ONE, Vol 12, Iss 4, p e0174264 (2017)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1371/journal.pone.0174264Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/018e0d0b0c5f4a439d4efb23ef2dfb63Test

الإتاحة: https://doi.org/10.1371/journal.pone.0174264Test
https://doaj.org/article/018e0d0b0c5f4a439d4efb23ef2dfb63Test

المؤلفون: Bruce E. Hayward, Svetlana Potapova, Inbal Gazy, Xiao-Nan Zhao, Karen Usdin

المصدر: DNA Repair. 74:63-69

مصطلحات موضوعية: Male, DNA End-Joining Repair, DNA Repair, Biology, LIG4, medicine.disease_cause, Biochemistry, Article, DNA Ligase ATP, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Holliday junction, Animals, DNA Breaks, Double-Stranded, Homologous Recombination, Molecular Biology, Repetitive Sequences, Nucleic Acid, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, DNA ligase, Mutation, fungi, Cell Biology, FMR1, Double Strand Break Repair, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, enzymes and coenzymes (carbohydrates), chemistry, Fragile X Syndrome, 030220 oncology & carcinogenesis, Hepatocytes, DNA mismatch repair, Homologous recombination

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2536e73f5e4891b36bdfd1b019344aTest
https://doi.org/10.1016/j.dnarep.2018.12.004Test

المؤلفون: Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Oncogenomics, ARD - Amsterdam Reproduction and Development, APH - Methodology, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Laboratory Medicine, Pediatric surgery

المصدر: New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627Test
N Engl J Med

مصطلحات موضوعية: Untranslated region, Male, Ataxia, Genotype, Developmental Disabilities, Glutamine, 030204 cardiovascular system & hematology, Polymerase Chain Reaction, Article, 03 medical and health sciences, 0302 clinical medicine, Glutaminase, Cerebellum, medicine, Humans, 030212 general & internal medicine, Allele, Gene, Amino Acid Metabolism, Inborn Errors, Exome sequencing, Genetics, Whole genome sequencing, Whole Genome Sequencing, business.industry, General Medicine, medicine.disease, Phenotype, Inborn error of metabolism, Child, Preschool, Mutation, Female, medicine.symptom, Atrophy, business, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813158a7c5d6c16623b474be3bcc9e38Test
https://doi.org/10.1056/nejmoa1806627Test

المؤلفون: Karen Usdin, Bruce E. Hayward

المصدر: Genes
Genes, Vol 12, Iss 1633, p 1633 (2021)

مصطلحات موضوعية: DNA Replication, Genome instability, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, microhomology mediated end-joining (MMEJ), repeat expansion, Aneuploidy, Review, QH426-470, Primary Ovarian Insufficiency, Biology, Genomic Instability, Fragile X Mental Retardation Protein, Tremor, Genetics, medicine, Humans, repeat contractions, Allele, chromosome fragility, repeat mosaicism, Genetics (clinical), DNA Repeat Expansion, mitotic DNA synthesis (MiDAS), Chromosomal fragile site, medicine.disease, FMR1, base excision repair (BER), Fragile X syndrome, Fragile X Syndrome, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, break induced replication (BIR)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca3c69a64eea0a59aa94f4e9a6be354Test
https://doi.org/10.3390/genes12101633Test

المؤلفون: Bruce E. Hayward, Karen Usdin

المصدر: The Journal of Molecular Diagnostics. 19:828-835

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Genetic counseling, Genetic Counseling, Biology, Polymerase Chain Reaction, Article, Pathology and Forensic Medicine, Fragile X Mental Retardation Protein, 03 medical and health sciences, Exon, medicine, Humans, Allele, Alleles, X chromosome, Genetics, Mosaicism, medicine.disease, FMR1, Fragile X syndrome, 030104 developmental biology, Fragile X Syndrome, Mutation, Molecular Medicine, Female, Primer (molecular biology), Trinucleotide Repeat Expansion, Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db0f7888a9d9a7c78489c7bf2ecb8626Test
https://doi.org/10.1016/j.jmoldx.2017.06.008Test

المؤلفون: Bruce E. Hayward, Daman Kumari, Karen Usdin

المصدر: Human Genetics. 136:1313-1327

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, RNA Stability, Primary Ovarian Insufficiency, 030105 genetics & heredity, Biology, Article, Fragile X Mental Retardation Protein, 03 medical and health sciences, Tremor, Intellectual disability, Genetics, medicine, Humans, Gene Silencing, Allele, Genetics (clinical), medicine.disease, FMR1, Human genetics, Fragile X syndrome, 030104 developmental biology, Fragile X Syndrome, DNA methylation, Autism, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ff7f22672002cc7dff03d6fd127ec1Test
https://doi.org/10.1007/s00439-017-1840-5Test