المؤلفون: Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5425

مصطلحات موضوعية: FMR1 gene, CGG repeat, mechanisms of instability, dynamic mutations, repeat expansion disorders, molecular medicine, neurological disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms23105425Test

الإتاحة: https://doi.org/10.3390/ijms23105425Test

المؤلفون: Jorge, Paula, Marques, Isabel, Gonçalves, Rui, Gonçalves-Rocha, Miguel, Santos, Rosário

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Doenças Genéticas, FRAXE Mental Retardation, X-linked Intellectual Disability (XLID), Dynamic Mutations, AFF2 gene (AF4/FMR2 family member 2), Fragile-X Syndrome

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/1199Test

المؤلفون: Loureiro, Joana, Jorge, Paula, Marques, Isabel, Santos, Rosário, Seixas, Ana, Martins, Márcia, Vale, José, Sequeiros, Jorge, Silveira, Isabel

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Fragile X Syndrome, Dynamic Mutations, FMR1 gene, CGG Repeat Alleles, Portuguese FXS Families, Premutations, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/932Test

المؤلفون: Sardana K. Kononova, Oksana G. Sidorova, Sardana A. Fedorova, Fedor A. Platonov, Vera L. Izhevskaya, Elza K. Khusnutdinova

المصدر: International Journal of Circumpolar Health, Vol 73, Iss 0, Pp 1-5 (2014)

مصطلحات موضوعية: prenatal diagnosis, bioethics, hereditary diseases, dynamic mutations, genetic counselling, DNA testing, Arctic medicine. Tropical medicine, RC955-962

وصف الملف: electronic resource

العلاقة: http://www.circumpolarhealthjournal.net/index.php/ijch/article/download/25062/pdf_1Test; https://doaj.org/toc/2242-3982Test

الوصول الحر: https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80Test

المؤلفون: Ruocco, Heloísa H., Lopes-Cendes, Iscia, Laurito, Tiago L., Li, Li M., Cendes, Fernando

المصدر: Arquivos de Neuro-Psiquiatria. March 2006 64(1)

مصطلحات موضوعية: neurodegenerative disorder, dynamic mutations, genotype-phenotype correlation, basal ganglia, atrophy

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000100002Test

المؤلفون: Viguera Martínez, Enrique

المصدر: Encuentros en la Biología; Vol. 6 Núm. 142 (2013): Linus Pauling. un científico excepcional ; 5-7 ; 2254-0296 ; 1134-8496 ; 10.24310/enbio61422013

مصطلحات موضوعية: Secuencias, DNA, repetidas, mutaciones dinámicas, sequences, repeated, dynamic mutations

وصف الملف: application/pdf

العلاقة: https://revistas.uma.es/index.php/enbio/article/view/18378/18391Test; https://revistas.uma.es/index.php/enbio/article/view/18378Test

الإتاحة: https://doi.org/10.24310/enbio61422013Test
https://revistas.uma.es/index.php/enbio/article/view/18378Test

المؤلفون: Ginter E.K., Illarioshkin S.N.

المصدر: Annals of the Russian academy of medical sciences; Vol 67, No 8 (2012); 14-20 ; Вестник Российской академии медицинских наук; Vol 67, No 8 (2012); 14-20 ; 2414-3545 ; 0869-6047 ; 10.15690/vramn678

مصطلحات موضوعية: hereditary neurological disorders, genetic heterogeneity, dynamic mutations, genetic predisposition, gene therapy, наследственные неврологические заболевания, генетическая гетерогенность, динамические мутации, генетическая предрасположенность, генная терапия

وصف الملف: application/pdf

العلاقة: https://vestnikramn.spr-journal.ru/jour/article/view/272/210Test; https://vestnikramn.spr-journal.ru/jour/article/view/272Test

الإتاحة: https://doi.org/10.15690/vramn.v67i8.344Test
https://doi.org/10.15690/vramn678Test
https://vestnikramn.spr-journal.ru/jour/article/view/272Test

المؤلفون: Razidlo, David F., Lahue, Robert S.

مصطلحات موضوعية: trinucleotide repeat, expansion, checkpoint, DNA damage response, replicational coupling, DNA-replication stress, s-phase checkpoint, saccharomyces-cerevisiae, trinucleotide repeats, human-disease, myotonic-dystrophy, somatic mosaicism, dynamic mutations, damage checkpoint, mismatch-repair

العلاقة: DNA Repair; Razidlo, David F. Lahue, Robert S. (2008). Mrc1, tof1 and csm3 inhibit cag·ctg repeat instability by at least two mechanisms. DNA Repair 7 (4), 633-640; http://hdl.handle.net/10379/13606Test

الإتاحة: https://doi.org/10.1016/j.dnarep.2008.01.009Test
http://hdl.handle.net/10379/13606Test

المؤلفون: Samaraweera, S., O'Keefe, L., van Eyk, C., Lawlor, K., Humphreys, D., Suter, C., Richards, R.

المساهمون: Hatters, D., Hannan, A.

مصطلحات موضوعية: Dynamic mutations, Repeat expansion diseases, Polyglutamine, RNA dominant pathogenesis, Neurodegeneration, Huntington’s disease, Drosophila models of human disease

العلاقة: Tandem repeats in genes, proteins, and disease : methods and protocols, 2013 / Hatters, D., Hannan, A. (ed./s), vol.1017, pp.173-192; http://hdl.handle.net/2440/81132Test; van Eyk, C. [0000-0003-0345-9944]

الإتاحة: https://doi.org/10.1007/978-1-62703-438-8_13Test
http://hdl.handle.net/2440/81132Test

المؤلفون: Jorge, Paula, Marques, Isabel, Gonçalves, Rui, Gonçalves-Rocha, Miguel, Santos, Rosário

مصطلحات موضوعية: Doenças Genéticas, FRAXE Mental Retardation, X-linked Intellectual Disability (XLID), Dynamic Mutations, AFF2 gene (AF4/FMR2 family member 2), Fragile-X Syndrome

العلاقة: http://hdl.handle.net/10400.18/1199Test

الإتاحة: http://hdl.handle.net/10400.18/1199Test