Artículos de revistas sobre el tema "Microsatellite disorders"
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Richard, Guy-Franck. "The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions". Cells 10, n.º 5 (26 de abril de 2021): 1019. http://dx.doi.org/10.3390/cells10051019.
Texto completoAvvaru, Akshay Kumar, Deepak Sharma, Archana Verma, Rakesh K. Mishra y Divya Tej Sowpati. "MSDB: a comprehensive, annotated database of microsatellites". Nucleic Acids Research 48, n.º D1 (10 de octubre de 2019): D155—D159. http://dx.doi.org/10.1093/nar/gkz886.
Texto completoRanum, Laura P. W. y John W. Day. "Dominantly inherited, non-coding microsatellite expansion disorders". Current Opinion in Genetics & Development 12, n.º 3 (junio de 2002): 266–71. http://dx.doi.org/10.1016/s0959-437x(02)00297-6.
Texto completoVolpe, G., B. Gamberi, C. Pastore, A. Roetto, M. Pautasso, G. Parvis, C. Camaschella, U. Mazza, G. Saglio y G. Gaidano. "Analysis of microsatellite instability in chronic lymphoproliferative disorders". Annals of Hematology 72, n.º 2 (febrero de 1996): 67–71. http://dx.doi.org/10.1007/bf00641310.
Texto completoVolpe, G., B. Gamberi, C. Pastore, A. Roetto, M. Pautasso, G. Parvis, C. Camaschella, U. Mazza, G. Saglio y G. Gaidano. "Analysis of microsatellite instability in chronic lymphoproliferative disorders". Annals of Hematology 72, n.º 2 (1 de febrero de 1996): 67–71. http://dx.doi.org/10.1007/s002770050139.
Texto completoPoggi, Lucie, Lisa Emmenegger, Stéphane Descorps-Declère, Bruno Dumas y Guy-Franck Richard. "Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations". Nucleic Acids Research 49, n.º 14 (7 de julio de 2021): 8120–34. http://dx.doi.org/10.1093/nar/gkab569.
Texto completoShoab Mansuri, Mohmmad, Mala Singh y Munira Jariwala. "Investigating the Association of Poly (ADP-Ribose) Polymerase-1 (PARP-1) and Nuclear Factor-κB (NF-κB) Polymorphisms with Vitiligo Susceptibility". International Journal of Research and Review 9, n.º 10 (17 de octubre de 2022): 277–85. http://dx.doi.org/10.52403/ijrr.20221032.
Texto completoEcheverria, Gloria V. y Thomas A. Cooper. "RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity". Brain Research 1462 (junio de 2012): 100–111. http://dx.doi.org/10.1016/j.brainres.2012.02.030.
Texto completoHayward, Bruce E., Peter J. Steinbach y Karen Usdin. "A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders". Nucleic Acids Research 48, n.º 14 (3 de julio de 2020): 7856–63. http://dx.doi.org/10.1093/nar/gkaa573.
Texto completoGrespi, Valentina, Cecilia Caprera, Claudia Ricciolini, Ilaria Bicchi, Gianmarco Muzi, Matteo Corsi, Stefano Ascani, Angelo Luigi Vescovi y Maurizio Gelati. "Human neural stem cells drug product: Microsatellite instability analysis". PLOS ONE 17, n.º 8 (30 de agosto de 2022): e0273679. http://dx.doi.org/10.1371/journal.pone.0273679.
Texto completoCastelli, Lydia M., Wan-Ping Huang, Ya-Hui Lin, Kung-Yao Chang y Guillaume M. Hautbergue. "Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders". Biochemical Society Transactions 49, n.º 2 (17 de marzo de 2021): 775–92. http://dx.doi.org/10.1042/bst20200690.
Texto completoCleary, John Douglas y Laura PW Ranum. "Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders". Current Opinion in Genetics & Development 26 (junio de 2014): 6–15. http://dx.doi.org/10.1016/j.gde.2014.03.002.
Texto completoGinter, E. K. y S. N. Illarioshkin. "ADVANCE OF GENETICS AND GENOMICS IN NEUROLOGY". Annals of the Russian academy of medical sciences 67, n.º 8 (11 de agosto de 2012): 14–20. http://dx.doi.org/10.15690/vramn.v67i8.344.
Texto completoZu, Tao, Brian Gibbens, Noelle S. Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D. Stone, Jamie Margolis et al. "Non-ATG–initiated translation directed by microsatellite expansions". Proceedings of the National Academy of Sciences 108, n.º 1 (20 de diciembre de 2010): 260–65. http://dx.doi.org/10.1073/pnas.1013343108.
Texto completoNakamura, Akie, Koji Muroya, Hiroko Ogata-Kawata, Kazuhiko Nakabayashi, Keiko Matsubara, Tsutomu Ogata, Kenji Kurosawa, Maki Fukami y Masayo Kagami. "A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth". Journal of Medical Genetics 55, n.º 8 (17 de febrero de 2018): 567–70. http://dx.doi.org/10.1136/jmedgenet-2017-104986.
Texto completoAsimakopoulos, FA, JG Gilbert, MA Aldred, TC Pearson y AR Green. "Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera". Blood 88, n.º 7 (1 de octubre de 1996): 2690–98. http://dx.doi.org/10.1182/blood.v88.7.2690.bloodjournal8872690.
Texto completoHammock, Elizabeth A. D. y Larry J. Young. "Oxytocin, vasopressin and pair bonding: implications for autism". Philosophical Transactions of the Royal Society B: Biological Sciences 361, n.º 1476 (6 de noviembre de 2006): 2187–98. http://dx.doi.org/10.1098/rstb.2006.1939.
Texto completoBender, Chelsea, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff, Santa J. Tumminia, Paul A. Sieving, Catherine A. Cukras y Robert B. Hufnagel. "Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder". Genes 13, n.º 4 (12 de abril de 2022): 675. http://dx.doi.org/10.3390/genes13040675.
Texto completoAsimakopoulos, FA, TL Holloway, EP Nacheva, MA Scott, P. Fenaux y AR Green. "Detection of chromosome 20q deletions in bone marrow metaphases but not peripheral blood granulocytes in patients with myeloproliferative disorders or myelodysplastic syndromes". Blood 87, n.º 4 (15 de febrero de 1996): 1561–70. http://dx.doi.org/10.1182/blood.v87.4.1561.bloodjournal8741561.
Texto completoLewis, Daniel J. y Madeleine Duvic. "A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability". JAAD Case Reports 3, n.º 4 (julio de 2017): 358–61. http://dx.doi.org/10.1016/j.jdcr.2017.04.007.
Texto completoAbidi, Asima, Mark A. J. Gorris, Evan Brennan, Marjolijn C. J. Jongmans, Dilys D. Weijers, Roland P. Kuiper, Richarda M. de Voer, Nicoline Hoogerbrugge, Gerty Schreibelt y I. Jolanda M. de Vries. "Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome". Cancers 13, n.º 10 (13 de mayo de 2021): 2345. http://dx.doi.org/10.3390/cancers13102345.
Texto completoGiuffrida, Paolo, Alessandro Vanoli, Giovanni Arpa, Arturo Bonometti, Ombretta Luinetti, Enrico Solcia, Gino Corazza, Marco Paulli y Antonio Di Sabatino. "Small Bowel Carcinomas Associated with Immune-Mediated Intestinal Disorders: The Current Knowledge". Cancers 11, n.º 1 (29 de diciembre de 2018): 31. http://dx.doi.org/10.3390/cancers11010031.
Texto completoAlonso-Navarro, Hortensia, Elena García-Martín, José A. G. Agúndez y Félix Javier Jiménez-Jiménez. "Association between restless legs syndrome and other movement disorders". Neurology 92, n.º 20 (19 de abril de 2019): 948–64. http://dx.doi.org/10.1212/wnl.0000000000007500.
Texto completoZhao, Xiaonan y Karen Usdin. "(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders". International Journal of Molecular Sciences 22, n.º 17 (25 de agosto de 2021): 9167. http://dx.doi.org/10.3390/ijms22179167.
Texto completoNguyen, Lien, John Douglas Cleary y Laura P. W. Ranum. "Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease". Annual Review of Neuroscience 42, n.º 1 (8 de julio de 2019): 227–47. http://dx.doi.org/10.1146/annurev-neuro-070918-050405.
Texto completoPotapov, Oleksii A., Anastasia Y. Glagolieva, Dmytro E. Makhmudov y Andrzej L. Komorowski. "Prognostic value of microsatellite instability in adjuvant treatment of colorectal cancer". Postępy Higieny i Medycyny Doświadczalnej 72 (3 de agosto de 2018): 540–46. http://dx.doi.org/10.5604/01.3001.0012.1680.
Texto completoMaciocha, Filip, Aleksandra Suchanecka, Krzysztof Chmielowiec, Jolanta Chmielowiec, Andrzej Ciechanowicz y Agnieszka Boroń. "Correlations of the CNR1 Gene with Personality Traits in Women with Alcohol Use Disorder". International Journal of Molecular Sciences 25, n.º 10 (9 de mayo de 2024): 5174. http://dx.doi.org/10.3390/ijms25105174.
Texto completoFreund, Aline Andrade, Rosana Hermínia Scola, Hélio A. G. Teive, Raquel Cristina Arndt, Magda Clara Vieira da Costa-Ribeiro, Lupe Furtado Alle y Lineu Cesar Werneck. "Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals". Arquivos de Neuro-Psiquiatria 67, n.º 4 (diciembre de 2009): 1124–32. http://dx.doi.org/10.1590/s0004-282x2009000600034.
Texto completoFranchina, M. "Polymorphism of the CD30 Promoter Microsatellite Repressive Element Is Associated with Development of Primary Cutaneous Lymphoproliferative Disorders". Cancer Epidemiology Biomarkers & Prevention 14, n.º 5 (1 de mayo de 2005): 1322–25. http://dx.doi.org/10.1158/1055-9965.epi-04-0826.
Texto completoDe Molfetta, Greice Andreotti, Temis Maria Felix, Mariluce Riegel, Victor Evangelista de Faria Ferraz y João Monteiro de Pina Neto. "A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect". Arquivos de Neuro-Psiquiatria 60, n.º 4 (diciembre de 2002): 1011–14. http://dx.doi.org/10.1590/s0004-282x2002000600024.
Texto completoTheocharides, Alexandre, Marjorie Boissinot, François Girodon, Richard Garand, Soon-Siong Teo, Eric Lippert, Pascaline Talmant, Andre Tichelli, Sylvie Hermouet y Radek C. Skoda. "Leukemic blasts in transformed JAK2-V617F–positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation." Blood 110, n.º 1 (1 de julio de 2007): 375–79. http://dx.doi.org/10.1182/blood-2006-12-062125.
Texto completoGalbraith, G. M. P. "Polymorphism of the CD30 Promoter Microsatellite Repressive Element Is Associated With Development of Primary Cutaneous Lymphoprolifer-ative Disorders". Yearbook of Dermatology and Dermatologic Surgery 2006 (enero de 2006): 369–70. http://dx.doi.org/10.1016/s0093-3619(08)70305-8.
Texto completoPeddareddygari, Leema Reddy, Phillip D. Kramer, Philip A. Hanna, Mark A. Levenstien y Raji P. Grewal. "Genetic Analysis of a Large Family with Migraine, Vertigo, and Motion Sickness". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, n.º 5 (1 de julio de 2019): 512–17. http://dx.doi.org/10.1017/cjn.2019.64.
Texto completoKRZEMIŃSKA, PAULINA, MACIEJ GOGULSKI, ROMAN ALEKSIEWICZ y MAREK ŚWITOŃSKI. "Genetic markers of canine hip dysplasia". Medycyna Weterynaryjna 74, n.º 2 (2018): 6069–2018. http://dx.doi.org/10.21521/mw.6069.
Texto completoWhite, NJ, E. Nacheva, FA Asimakopoulos, D. Bloxham, B. Paul y AR Green. "Deletion of chromosome 20q in myelodysplasia can occur in a multipotent precursor of both myeloid cells and B cells". Blood 83, n.º 10 (15 de mayo de 1994): 2809–16. http://dx.doi.org/10.1182/blood.v83.10.2809.2809.
Texto completoYoo, Hanik K., Seockhoon Chung, Jin Pyo Hong, Boong-Nyun Kim y Soo Churl Cho. "Microsatellite Marker in Gamma - Aminobutyric Acid - A Receptor Beta 3 Subunit Gene and Autism Spectrum Disorders in Korean Trios". Yonsei Medical Journal 50, n.º 2 (2009): 304. http://dx.doi.org/10.3349/ymj.2009.50.2.304.
Texto completoAsimakopoulos, FA, NJ White, E. Nacheva y AR Green. "Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes". Blood 84, n.º 9 (1 de noviembre de 1994): 3086–94. http://dx.doi.org/10.1182/blood.v84.9.3086.3086.
Texto completoAsimakopoulos, FA, NJ White, E. Nacheva y AR Green. "Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes". Blood 84, n.º 9 (1 de noviembre de 1994): 3086–94. http://dx.doi.org/10.1182/blood.v84.9.3086.bloodjournal8493086.
Texto completoLee, Johanna E. y Thomas A. Cooper. "Pathogenic mechanisms of myotonic dystrophy". Biochemical Society Transactions 37, n.º 6 (19 de noviembre de 2009): 1281–86. http://dx.doi.org/10.1042/bst0371281.
Texto completoSychevskaya, Kseniia Andreevna, N. V. Risinskaya, S. K. Kravchenko, E. E. Nikulina, A. E. Misyurina, A. U. Magomedova y A. B. Sudarikov. "Pitfalls in mononucleotide microsatellite repeats instability assessing (MSI) in the patients with B-cell lymphomas". Russian Clinical Laboratory Diagnostics 66, n.º 3 (30 de marzo de 2021): 181–86. http://dx.doi.org/10.51620/0869-2084-2021-66-3-181-186.
Texto completoChoufani, Sanaa, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman y Rosanna Weksberg. "Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome". Genes 12, n.º 2 (27 de enero de 2021): 172. http://dx.doi.org/10.3390/genes12020172.
Texto completoSchaub, Franz X., Roland Jäger, Renate Looser, Hui Hao-Shen, Sylvie Hermouet, François Girodon, Andre Tichelli, Heinz Gisslinger, Robert Kralovics y Radek C. Skoda. "Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F". Blood 113, n.º 9 (26 de febrero de 2009): 2022–27. http://dx.doi.org/10.1182/blood-2008-07-167056.
Texto completoCastoldi, Elisabetta, Barbara Lunghi, Federico Mingozzi, Paolo Simioni, Antonio Girolami y Francesco Bernardi. "A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V-related disorders". British Journal of Haematology 114, n.º 4 (septiembre de 2001): 868–70. http://dx.doi.org/10.1046/j.1365-2141.2001.03052.x.
Texto completoT, Muthu Venkat, Vijayalakshmi Vijayalakshmi y Pramila Pramila. "Significance of Microsatellite Instability in Colorectal Carcinoma- A Complete Review". Saudi Journal of Pathology and Microbiology 9, n.º 03 (27 de marzo de 2024): 71–74. http://dx.doi.org/10.36348/sjpm.2024.v09i03.003.
Texto completoPeral, Belén, José L. San Millán, Roberto Castello, Paolo Moghetti y Héctor F. Escobar-Morreale. "The Methionine 196 Arginine Polymorphism in Exon 6 of the TNF Receptor 2 Gene (TNFRSF1B) Is Associated with the Polycystic Ovary Syndrome and Hyperandrogenism". Journal of Clinical Endocrinology & Metabolism 87, n.º 8 (1 de agosto de 2002): 3977–83. http://dx.doi.org/10.1210/jcem.87.8.8715.
Texto completoWeinhaeusel, Andreas, Susanne Thiele, Manuela Hofner, Olaf Hiort y Christa Noehammer. "PCR-Based Analysis of Differentially Methylated Regions of GNAS Enables Convenient Diagnostic Testing of Pseudohypoparathyroidism Type Ib". Clinical Chemistry 54, n.º 9 (1 de septiembre de 2008): 1537–45. http://dx.doi.org/10.1373/clinchem.2008.104216.
Texto completoBekki, Tomoaki, Yuji Takakura, Masatoshi Kochi, Yoko Konemori, Kenji Oki, Masayasu Yoneda, Hiroyuki Egi y Hideki Ohdan. "A Case of Isolated Adrenocorticotropic Hormone Deficiency Caused by Pembrolizumab". Case Reports in Oncology 13, n.º 1 (5 de marzo de 2020): 200–206. http://dx.doi.org/10.1159/000505687.
Texto completoKenyon, Jonathan D., Youngji Park, Randall E. Marcus, Victor M. Goldberg y Stanton L. Gerson. "Human Hematopoietic Progenitor Cells Exhibit Increased Microsatellite Instability Associated with Advanced Age." Blood 106, n.º 11 (16 de noviembre de 2005): 2284. http://dx.doi.org/10.1182/blood.v106.11.2284.2284.
Texto completoGómez, Rocío, Yessica S. Tapia-Guerrero, Bulmaro Cisneros, Lorena Orozco, César Cerecedo-Zapata, Elvia Mendoza-Caamal, Gerardo Leyva-Gómez, Norberto Leyva-García, Luis Velázquez-Pérez y Jonathan J. Magaña. "Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations". Genes 13, n.º 1 (16 de enero de 2022): 157. http://dx.doi.org/10.3390/genes13010157.
Texto completoRodina, A. D., V. G. Polyakov, A. S. Krylov, V. V. Semenova, V. M. Kozlova, T. V. Nasedkina, A. L. Kashanina, N. A. Kozlov, V. V. Migunova y T. V. Gorbunova. "CMMRD-associated embryonic rhabdomyosarcoma in a child. Clinical case with literature review". Russian Journal of Pediatric Hematology and Oncology 10, n.º 3 (30 de noviembre de 2023): 89–100. http://dx.doi.org/10.21682/2311-1267-2023-10-3-89-100.
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