Artículos de revistas sobre el tema "Cryptic Mosaicism"
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Čulić, Vida, Ruzica Lasan-Trcić, Thomas Liehr, Igor N. Lebedev, Maja Pivić, Jasminka Pavelic y Robert Vulić. "A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss". Cytogenetic and Genome Research 156, n.º 4 (2018): 179–84. http://dx.doi.org/10.1159/000494822.
Texto completoDupont, Celine, Andree Delahaye, Lydie Burglen, Anne-Claude Tabet, Azzedine Aboura, Samia Kanafani, Françoise Baverel, Thierry Billette de Villemeur, Brigitte Benzacken y Eva Pipiras. "First cryptic balanced reciprocal translocation mosaicism and familial transmission". American Journal of Medical Genetics Part A 146A, n.º 22 (15 de noviembre de 2008): 2971–74. http://dx.doi.org/10.1002/ajmg.a.32547.
Texto completoStefanou, E.-G., M. Crocker, A. Boon y H. Stewart. "Cryptic mosaicism for monosomy 20 identified in renal tract cells". Clinical Genetics 70, n.º 3 (12 de julio de 2006): 228–32. http://dx.doi.org/10.1111/j.1399-0004.2006.00652.x.
Texto completoAliaga, Solange M., Howard R. Slater, David Francis, Desiree Du Sart, Xin Li, David J. Amor, Angelica M. Alliende et al. "Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis". Clinical Chemistry 62, n.º 2 (1 de febrero de 2016): 343–52. http://dx.doi.org/10.1373/clinchem.2015.244681.
Texto completoDaniel, Art, Zhanhe Wu, Artur Darmanian, Paul Malafiej, Varsha Tembe, Greg Peters, Craig Kennedy y Lesley Adès. "Issues arising from the prenatal diagnosis of some rare trisomy mosaics—the importance of cryptic fetal mosaicism". Prenatal Diagnosis 24, n.º 7 (julio de 2004): 524–36. http://dx.doi.org/10.1002/pd.936.
Texto completoMcDonough, Paul G. y Sandra P. T. Tho. "Clinical implications of overt and cryptic Y mosaicism in individuals with dysgenetic gonads". International Congress Series 1298 (octubre de 2006): 13–20. http://dx.doi.org/10.1016/j.ics.2006.06.011.
Texto completoBispo, Adriana Valéria Sales, Pollyanna Burégio-Frota, Luana Oliveira dos Santos, Gabriela Ferraz Leal, Andrea Rezende Duarte, Jacqueline Araújo, Vanessa Cavalcante da Silva, Maria Tereza Cartaxo Muniz, Thomas Liehr y Neide Santos. "Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case". Reproduction, Fertility and Development 26, n.º 8 (2014): 1176. http://dx.doi.org/10.1071/rd13207.
Texto completoMurdock, David R., Frank X. Donovan, Settara C. Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke y Paul Kruszka. "Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening". Journal of Clinical Endocrinology & Metabolism 102, n.º 5 (24 de enero de 2017): 1529–37. http://dx.doi.org/10.1210/jc.2016-3414.
Texto completoPinto, Anna Maria, Sergio Daga, Chiara Fallerini, Mirella Bruttini, Margherita Baldassarri, Annarita Giliberti, Elisa Frullanti, Andrea Guarnieri, Guido Garosi y Alessandra Renieri. "Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation". Transplantation 104, n.º 11 (31 de diciembre de 2019): 2360–64. http://dx.doi.org/10.1097/tp.0000000000003104.
Texto completoKim, Jin Woo, Eun Hee Cho, Young Mi Kim, Jin Mee Kim, Jung Yeol Han y So Yeon Park. "Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome". Experimental & Molecular Medicine 32, n.º 1 (marzo de 2000): 38–41. http://dx.doi.org/10.1038/emm.2000.7.
Texto completoBallif, Blake C., Christina J. Ramirez, Casey R. Carl, Kyle Sundin, Melissa Krug, Adam Zahand, Lisa G. Shaffer y Helen Flores-Smith. "The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds". Cytogenetic and Genome Research 156, n.º 1 (2018): 22–34. http://dx.doi.org/10.1159/000491408.
Texto completoGijsbers, Antoinet C. J., Johannes G. Dauwerse, Cathy A. J. Bosch, Elles M. J. Boon, Wilco van den Ende, Sarina G. Kant, Kerstin M. B. Hansson, Martijn H. Breuning, Egbert Bakker y Claudia A. L. Ruivenkamp. "Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation". European Journal of Medical Genetics 54, n.º 4 (julio de 2011): e409-e412. http://dx.doi.org/10.1016/j.ejmg.2011.05.002.
Texto completoGökpınar İli, Ezgi, Şule Altıner y Halil G. Karabulut. "Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature". Cytogenetic and Genome Research 159, n.º 2 (2019): 74–80. http://dx.doi.org/10.1159/000503574.
Texto completoWise, Jasen L., Richard J. Crout, Daniel W. McNeil, Robert J. Weyant, Mary L. Marazita y Sharon L. Wenger. "Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization". PLoS ONE 4, n.º 6 (10 de junio de 2009): e5855. http://dx.doi.org/10.1371/journal.pone.0005855.
Texto completoVulliamy, T. J., S. W. Knight, N. S. Heiss, O. P. Smith, A. Poustka, I. Dokal y P. J. Mason. "Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier". Blood 94, n.º 4 (15 de agosto de 1999): 1254–60. http://dx.doi.org/10.1182/blood.v94.4.1254.
Texto completoVulliamy, T. J., S. W. Knight, N. S. Heiss, O. P. Smith, A. Poustka, I. Dokal y P. J. Mason. "Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier". Blood 94, n.º 4 (15 de agosto de 1999): 1254–60. http://dx.doi.org/10.1182/blood.v94.4.1254.416k24_1254_1260.
Texto completoSantos, M., K. Mrasek, I. Madrigal, M. R. Martorell, A. González-Meneses, G. Rodríguez-Criado, M. Milà, T. Liehr y C. Fuster. "Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations". American Journal of Medical Genetics Part A 152A, n.º 10 (2 de septiembre de 2010): 2661–63. http://dx.doi.org/10.1002/ajmg.a.33638.
Texto completoSantos, Mònica, Kristin Mrasek, Maria Àngels Rigola, Heike Starke, Thomas Liehr y Carme Fuster. "Identification of a “cryptic mosaicism” involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success". Fertility and Sterility 88, n.º 4 (octubre de 2007): 969.e11–969.e17. http://dx.doi.org/10.1016/j.fertnstert.2006.12.073.
Texto completoStabile, M., T. Angelino, F. Caiazzo, P. Olivieri, N. De Marchi, L. De Petrocellis y P. Orlando. "Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia". Molecular Human Reproduction 14, n.º 11 (14 de octubre de 2008): 635–40. http://dx.doi.org/10.1093/molehr/gan057.
Texto completoPandelache, Alison, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage y David E. Godler. "Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX". Genes 12, n.º 6 (24 de mayo de 2021): 798. http://dx.doi.org/10.3390/genes12060798.
Texto completoCapkova, Pavlina, Zuzana Capkova, Peter Rohon, Katerina Adamová y Jirina Zapletalova. "Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies". PeerJ 8 (17 de noviembre de 2020): e10236. http://dx.doi.org/10.7717/peerj.10236.
Texto completoIacucci, M., E. Grisan, N. Labarile, O. Nardone, S. C. Smith, L. Jeffery, S. Ghosh y A. Buda. "P397 Response to biologics in IBD patients assessed by Computerized image analysis of Probe Based Confocal Laser Endomicroscopy with molecular labeling". Journal of Crohn's and Colitis 15, Supplement_1 (1 de mayo de 2021): S406—S407. http://dx.doi.org/10.1093/ecco-jcc/jjab076.521.
Texto completoMartin, Guillaume, Céline Cardi, Gautier Sarah, Sébastien Ricci, Christophe Jenny, Emmanuel Fondi, Xavier Perrier, Jean‐Christophe Glaszmann, Angélique D'Hont y Nabila Yahiaoui. "Genome ancestry mosaics reveal multiple and cryptic contributors to cultivated banana". Plant Journal 102, n.º 5 (28 de febrero de 2020): 1008–25. http://dx.doi.org/10.1111/tpj.14683.
Texto completoО.А., Соловова,, Опарина, Н.В., Сорокина, Т.М., Андреева, М.В., Хаят, С.Ш., Штаут, М.И., Коталевская, Ю.Ю. et al. "Comprehensive genetic examination of azoospermiс and severe oligozoospermiс patients". Nauchno-prakticheskii zhurnal «Medicinskaia genetika, n.º 12 (27 de diciembre de 2021): 12–22. http://dx.doi.org/10.25557/2073-7998.2021.12.12-22.
Texto completoSANDERS, KATE L., ARNE R. RASMUSSEN, JOHAN ELMBERG, MUMPUNI _, MICHAEL GUINEA, PETER BLIAS, MICHAEL S. Y. LEE y BRYAN G. FRY. "Aipysurus mosaicus, a new species of egg-eating sea snake (Elapidae: Hydrophiinae), with a redescription of Aipysurus eydouxii (Gray, 1849)". Zootaxa 3431, n.º 1 (21 de agosto de 2012): 1. http://dx.doi.org/10.11646/zootaxa.3431.1.1.
Texto completoSchwartz, Jason R., Michael P. Walsh, Jing Ma, Tamara Lamprecht, Shuoguo Wang, Gang Wu, John Easton, Raul C. Ribeiro y Jeffery M. Klco. "The Genomic Landscape of Pediatric Myelodysplastic Syndromes". Blood 128, n.º 22 (2 de diciembre de 2016): 956. http://dx.doi.org/10.1182/blood.v128.22.956.956.
Texto completoDinsdale, A., N. A. Schellhorn, P. De Barro, Y. M. Buckley y C. Riginos. "Rapid genetic turnover in populations of the insect pest Bemisia tabaci Middle East: Asia Minor 1 in an agricultural landscape". Bulletin of Entomological Research 102, n.º 5 (15 de marzo de 2012): 539–49. http://dx.doi.org/10.1017/s0007485312000077.
Texto completoSantos, Xavier, Vicenç Bros y Elisabet Ros. "Contrasting responses of two xerophilous land snails to fire and natural reforestation". Contributions to Zoology 81, n.º 3 (24 de agosto de 2012): 167—S1. http://dx.doi.org/10.1163/18759866-08103004.
Texto completoHook, Ernest B. y Dorothy Warburton. "Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss". Human Genetics 133, n.º 4 (30 de enero de 2014): 417–24. http://dx.doi.org/10.1007/s00439-014-1420-x.
Texto completoMa, Na, Hui Xi, Jing Chen, Ying Peng, Zhengjun Jia, Shuting Yang, Jiancheng Hu et al. "Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism". BMC Medical Genomics 14, n.º 1 (25 de febrero de 2021). http://dx.doi.org/10.1186/s12920-021-00899-x.
Texto completoAraújo, A. y E. S. Ramos. "Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome". Brazilian Journal of Medical and Biological Research 41, n.º 5 (mayo de 2008). http://dx.doi.org/10.1590/s0100-879x2008000500004.
Texto completoRubinstein, Clifford Dustin, Dalton T. McLean, Brent P. Lehman, Jennifer J. Meudt, Dominic T. Schomberg, Kathy J. Krentz, Jamie L. Reichert et al. "Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and TP53 Mutant Porcine Models Reveals Overlooked Challenges in Precision Modeling of Human Diseases". Frontiers in Genetics 12 (23 de septiembre de 2021). http://dx.doi.org/10.3389/fgene.2021.721045.
Texto completoNadesapillai, Sapthami, Janielle van der Velden, Dominique Smeets, Guillaume van de Zande, Didi Braat, Kathrin Fleischer y Ronald Peek. "Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary". Fertility and Sterility, diciembre de 2020. http://dx.doi.org/10.1016/j.fertnstert.2020.11.006.
Texto completoLiehr, Thomas. "Uniparental disomy is a chromosomic disorder in the first place". Molecular Cytogenetics 15, n.º 1 (17 de febrero de 2022). http://dx.doi.org/10.1186/s13039-022-00585-2.
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