Artigos de revistas sobre o tema "Mosaic genetic anomalies"
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Veja os 50 melhores artigos de revistas para estudos sobre o assunto "Mosaic genetic anomalies".
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Xing, Huan-xia, Peng-bin Li, Li-min Cui, Jian-ye Jiang, Ning-ning Hu e Xiao-bin Zhang. "Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)". BioMed Research International 2021 (2 de julho de 2021): 1–8. http://dx.doi.org/10.1155/2021/6258527.
Texto completo da fonteVinkšel, M., M. Volk, B. Peterlin e L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p". Balkan Journal of Medical Genetics 22, n.º 1 (28 de agosto de 2019): 11–20. http://dx.doi.org/10.2478/bjmg-2019-0012.
Texto completo da fonteMilicevic, Srboljub, Jasmina Tadic, Stasa Krasic e Stevan Repac. "Autopsy findings in a fetus with monosomy 20 mosaicism". Srpski arhiv za celokupno lekarstvo, n.º 00 (2024): 17. http://dx.doi.org/10.2298/sarh231112017m.
Texto completo da fonteVorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, V. S. Kravets, A. D. Kolotii, I. A. Demidova, V. O. Sharonin, Yu B. Yurov e I. Yu Yurov. "The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, n.º 2 (15 de maio de 2020): 40–48. http://dx.doi.org/10.21508/1027-4065-2020-65-2-40-48.
Texto completo da fonteThu-Ta, Flora, Dalvir Singh Bajwa, Suzanne Leech, Anna Dubois e Brian Wilson. "PA33 Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth". British Journal of Dermatology 191, Supplement_1 (28 de junho de 2024): i137. http://dx.doi.org/10.1093/bjd/ljae090.288.
Texto completo da fonteLeroij, Olivier, Lennart Van der Veeken, Bettina Blaumeiser e Katrien Janssens. "Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication". Reproductive Medicine 2, n.º 3 (9 de julho de 2021): 118–24. http://dx.doi.org/10.3390/reprodmed2030012.
Texto completo da fonteTidrenczel, Zsolt, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke e János Demeter. "Praenatalisan diagnosztizált Pallister–Killian-szindróma esete". Orvosi Hetilap 159, n.º 21 (maio de 2018): 847–52. http://dx.doi.org/10.1556/650.2018.31015.
Texto completo da fonteStephens, Carol M., Andreea M. Pavel, Sean R. Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore e Geraldine B. Boylan. "Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)". HRB Open Research 5 (18 de fevereiro de 2022): 14. http://dx.doi.org/10.12688/hrbopenres.13493.1.
Texto completo da fonteSchneeweiss, Michelle Robyn, Breanne Dale e Resham Ejaz. "Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant". BMJ Case Reports 15, n.º 12 (dezembro de 2022): e248995. http://dx.doi.org/10.1136/bcr-2022-248995.
Texto completo da fonteEid, Maha M., Ola M. Eid, Sawsan Abdel-Hadi, Nehal Hassib, Abdelrahman Madian, Hanan H. Afifi e Ghada M. H. Abdel-Salam. "Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients". Journal of Pediatric Genetics 09, n.º 03 (21 de novembro de 2019): 207–10. http://dx.doi.org/10.1055/s-0039-3400489.
Texto completo da fonteBrăila, Anca Daniela, Constantin Marian Damian, Cristina-Crenguţa Albu, Oana Botoacă, Laurențiu Mihai Dȋră, Ştefan-Dimitrie Albu, Matei Georgian Brăila, Andreea-Mariana Bănățeanu, Cristian-Viorel Poalelungi e Claudia Florina Bogdan-Andreescu. "Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study". Journal of Clinical Medicine 13, n.º 16 (15 de agosto de 2024): 4804. http://dx.doi.org/10.3390/jcm13164804.
Texto completo da fonteJuric-Sekhar, Gordana, e Robert F. Hevner. "Malformations of Cerebral Cortex Development: Molecules and Mechanisms". Annual Review of Pathology: Mechanisms of Disease 14, n.º 1 (24 de janeiro de 2019): 293–318. http://dx.doi.org/10.1146/annurev-pathmechdis-012418-012927.
Texto completo da fonteLaurie, Cathy C., Cecelia A. Laurie, Brooke Fridley, Erin Carlson, Stephanie A. Smoley, Ian W. Flinn, Martin S. Tallman et al. "Clonal Chromosomal Anomalies Similar to CLL and Other Hematologic Malignancies Can Be Found in “Normal” Individuals". Blood 120, n.º 21 (16 de novembro de 2012): 873. http://dx.doi.org/10.1182/blood.v120.21.873.873.
Texto completo da fonteDsouza, Nikita R., Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet e Michael T. Zimmermann. "Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes". Life 14, n.º 3 (23 de fevereiro de 2024): 297. http://dx.doi.org/10.3390/life14030297.
Texto completo da fonteRamwani, Miteshkumar, Claire O’Neill, Lea Solman, Alex Barnacle, Mary Glover e Satyamaanasa Polubothu. "PA09 Clinical characterization of a cohort of KRAS-associated low-flow vascular anomalies". British Journal of Dermatology 191, Supplement_1 (28 de junho de 2024): i126—i127. http://dx.doi.org/10.1093/bjd/ljae090.264.
Texto completo da fonteMussa, Alessandro, Diana Carli, Simona Cardaropoli, Giovanni Battista Ferrero e Nicoletta Resta. "Lateralized and Segmental Overgrowth in Children". Cancers 13, n.º 24 (7 de dezembro de 2021): 6166. http://dx.doi.org/10.3390/cancers13246166.
Texto completo da fonteLara-Corrales, Irene, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar e Peter Kannu. "Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience". Journal of Cutaneous Medicine and Surgery 21, n.º 5 (27 de abril de 2017): 379–82. http://dx.doi.org/10.1177/1203475417708163.
Texto completo da fonteStrano, Serena, Agata Polizzi, Martino Ruggieri, Maria Garozzo, Flavia Mendola, Simona Marino, Concetta Pirrone et al. "Phacomatosis Pigmentokeratotica". Journal of Pediatric Neurology 16, n.º 05 (20 de agosto de 2018): 313–18. http://dx.doi.org/10.1055/s-0038-1667132.
Texto completo da fonteKhan, Atif Ahmad, Fazal Mabood, Muhammad Jamil Awan, Zarak Khan, Qaisar Ali e Sunaina Riaz. "Conventional Cytogenetic Analysis of Females with Primary Amenorrhea". BMC Journal of Medical Sciences 5, n.º 1 (3 de julho de 2024): 48–51. https://doi.org/10.70905/bmcj.05.01.0267.
Texto completo da fonteAn, Na, Yang Yu, Qi Xi, Fagui Yue, Ruizhi Liu, Shibo Li e Ruixue Wang. "Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review". BioMed Research International 2019 (19 de novembro de 2019): 1–8. http://dx.doi.org/10.1155/2019/9398275.
Texto completo da fonteEren Keskin, Seda, Buket Doğruoğlu, Zeynep İlkay, Deniz Sünnetçi Akkoyunlu, Naci Çine, Hakan Savlı, Yasemin Doğan e Gülseren Yücesoy. "Cytogenetic evaluation of 661 prenatal samples". Cukurova Medical Journal 49, n.º 2 (6 de abril de 2024): 248–59. http://dx.doi.org/10.17826/cumj.1380467.
Texto completo da fonteKhincha, Payal, Lisa Mirabello, Steven R. Ellis, Neelam Giri, Seth Brodie, Settara Chandrasekharappa, Frank Donovan et al. "Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization". Blood 128, n.º 22 (2 de dezembro de 2016): 1495. http://dx.doi.org/10.1182/blood.v128.22.1495.1495.
Texto completo da fonteGou, Lingshan, Yuan Fang, Na Wang, Man Zhang, Tianya Liu, Yi Wang, Shunan Hu et al. "Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center". Journal of International Medical Research 48, n.º 11 (novembro de 2020): 030006052096687. http://dx.doi.org/10.1177/0300060520966877.
Texto completo da fonteKryzhanovska, M. A., O. Yu Maiorova e N. Ia Holub. "АНАЛІЗ ДИНАМІКИ НАРОДЖЕННЯ ДІТЕЙ З АУТОСОМНИМИ ТРИСОМІЯМИ ПО ХМЕЛЬНИЦЬКІЙ ОБЛАСТІ". Scientific Issue Ternopil Volodymyr Hnatiuk National Pedagogical University. Series: Biology 83, n.º 1-2 (13 de outubro de 2023): 37–43. http://dx.doi.org/10.25128/2078-2357.23.1-2.6.
Texto completo da fonteKhan, Mansura, Mohammad Moniruzzaman, Zarina Akhter, Md Azmal Hossain e Ashesh Kumar Chowdhury. "An Analysis of Cytogenetic and Clinical Phenotype of Klinefelter Syndrome Over 17 Years". BIRDEM Medical Journal 8, n.º 2 (16 de maio de 2018): 126–31. http://dx.doi.org/10.3329/birdem.v8i2.36642.
Texto completo da fonteCobanogullari, H., N. Akcan e M. C. Ergoren. "Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)". Balkan Journal of Medical Genetics 26, n.º 1 (1 de julho de 2023): 57–62. http://dx.doi.org/10.2478/bjmg-2023-0007.
Texto completo da fonteLaw, Jennifer, Judith Ross, Chijioke Ikomi, Julie Blatt, Alyssa Truxon e Corinne Lawler. "PMON190 Characterization Of Lymphedema With Respect To Phenotype and Karyotype in Patients With Turner Syndrome". Journal of the Endocrine Society 6, Supplement_1 (1 de novembro de 2022): A620—A621. http://dx.doi.org/10.1210/jendso/bvac150.1286.
Texto completo da fonteKulbachuk, N. V., S. V. Matviiuk, S. V. Bilokon e O. L. Sechnyak. "The kariotype variability in children with Down syndrome from the Odesa region". Zaporozhye Medical Journal 23, n.º 1 (7 de abril de 2021): 77–82. http://dx.doi.org/10.14739/2310-1210.2021.1.224888.
Texto completo da fonteПожитнова, В. О., В. В. Свиридова, А. В. Кислова, Ф. С. Свиридов, Д. Г. Жегло e Е. С. Воронина. "Karyotype abnormalities in induced pluripotent stem cells derived from Russian donors". Nauchno-prakticheskii zhurnal «Medicinskaia genetika 22, n.º 12 (21 de dezembro de 2023): 59–66. http://dx.doi.org/10.25557/2073-7998.2023.12.59-66.
Texto completo da fonteVahidi, Parisa, Seyed Ali Rahmani e Nahid Hadige Rezvan. "Study of pregnant women with high risk of fetus abnormalities by routine cytogenetics method (karyotyping) and molecular method (FISH) by using X and Y probs and comparing the advantages and disadvantages of these methods in the northwest of Iran's patients". Medical Journal of Tabriz University of Medical Sciences and Health Services 43, n.º 1 (17 de abril de 2021): 108–15. http://dx.doi.org/10.34172/mj.2021.035.
Texto completo da fonteHsiao, Ching-Hua, Jia-Shing Chen, Yu-Ming Shiao, Yann-Jang Chen, Ching-Hsuan Chen, Woei-Chyn Chu e Yi-Cheng Wu. "Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies". Journal of Clinical Medicine 11, n.º 13 (23 de junho de 2022): 3624. http://dx.doi.org/10.3390/jcm11133624.
Texto completo da fonteDiociaiuti, Andrea, Roberta Rotunno, Elisa Pisaneschi, Claudia Cesario, Claudia Carnevale, Angelo Giuseppe Condorelli, Massimo Rollo et al. "Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study". Biomedicines 10, n.º 6 (20 de junho de 2022): 1460. http://dx.doi.org/10.3390/biomedicines10061460.
Texto completo da fonteМаркова, Ж. Г., М. Е. Миньженкова, Ф. М. Бостанова e Н. В. Шилова. "Clinical and molecular cytogenetic characteristics of the unique pseudotricentric X chromosome". Nauchno-prakticheskii zhurnal «Medicinskaia genetika 22, n.º 8 (18 de setembro de 2023): 44–51. http://dx.doi.org/10.25557/2073-7998.2023.08.44-51.
Texto completo da fonteTvrdik, Tatiana, Kristian T. Schafernak, Jeffrey R. Jacobsen, Reha Toydemir, Alexandra M. Walsh e Bo Hong. "Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21". Blood 134, Supplement_1 (13 de novembro de 2019): 5208. http://dx.doi.org/10.1182/blood-2019-123766.
Texto completo da fonteSteidl, Christian, Rainer Schabla, Ulrich Germing, Barbara Hildebrandt, Thomas Noesslinger, Michael Pfeilstoecker, Aristoteles Giagounidis et al. "Sequential Cytogenetic Analyses of 577 Patients with Myelodysplastic Syndromes: Correlations between Initial Karyotype, Cytogenetic Dynamics, and Clinical Course." Blood 106, n.º 11 (16 de novembro de 2005): 2531. http://dx.doi.org/10.1182/blood.v106.11.2531.2531.
Texto completo da fonteMassara, Lucía S., Marisol Delea, Lucía Espeche, Carlos D. Bruque, Jaen Oliveri, Paloma Brun, Lilian Furforo, Liliana Dain e Sandra Rozental. "Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies". Cytogenetic and Genome Research 159, n.º 3 (2019): 137–42. http://dx.doi.org/10.1159/000504238.
Texto completo da fonteEggenhuizen, Geerke M., Attie Go, Maria P. H. Koster, Esther B. Baart e Robert Jan Galjaard. "Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature". Human Reproduction Update 27, n.º 5 (13 de maio de 2021): 885–903. http://dx.doi.org/10.1093/humupd/dmab009.
Texto completo da fonteBerti, Emilio, Daniele Fanoni, Francesco Onida, Valentina Girgenti, Francesca Novara, Laura Corti, Luigia Venegoni et al. "Molecular Analysis of Primary Cutaneous Aggressive T-Cell Lymphomas: the Epidermotropic CD8+, the Pleomorphic CD8+ and the Gamma Delta Subsets." Blood 120, n.º 21 (16 de novembro de 2012): 2713. http://dx.doi.org/10.1182/blood.v120.21.2713.2713.
Texto completo da fonteBoulanger, L., P. Chavatte-Palmer, D. Lebouhris, N. Daniel, Y. Heyman, L. Gall, N. Borenstein e C. Cotinot. "325 GENERATION OF A CLONED GREEN FLUORESCENT PROTEIN (GFP) EXPRESSING TRANSGENIC SHEEP FOR MUSCLE STEM CELL GRAFT EXPERIMENTS". Reproduction, Fertility and Development 23, n.º 1 (2011): 259. http://dx.doi.org/10.1071/rdv23n1ab325.
Texto completo da fonteKROISEL, P. M. "Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q". Journal of Medical Genetics 37, n.º 9 (1 de setembro de 2000): 723–25. http://dx.doi.org/10.1136/jmg.37.9.723.
Texto completo da fonteVan den Enden, A., M. R. Verschraegen-Spae, N. Van Roy, W. Decaluwe, C. De Praeter e F. Speleman. "Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies". American Journal of Medical Genetics 63, n.º 3 (14 de junho de 1996): 482–85. http://dx.doi.org/10.1002/(sici)1096-8628(19960614)63:3<482::aid-ajmg13>3.0.co;2-i.
Texto completo da fonteTidrenczel, Zsolt, Erika P. Tardy, Ildikó Böjtös, Edina Sarkadi, Judit Simon, Henriett Pikó, Gábor Vermes, János Demeter e Artúr Beke. "A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében". Orvosi Hetilap 162, n.º 29 (18 de julho de 2021): 1156–65. http://dx.doi.org/10.1556/650.2021.32098.
Texto completo da fonteDewar, Janine, Debra Lomas, Claire O’Neill, Mary Glover, Veronica Kinsler e Satyamaanasa Polubothu. "PA04 Germline activating variants in PIK3CA result in a diffuse overgrowth phenotype characterized by macrocephaly, cardiovascular and renal anomalies: recommendations for screening and monitoring". British Journal of Dermatology 191, Supplement_1 (28 de junho de 2024): i124. http://dx.doi.org/10.1093/bjd/ljae090.259.
Texto completo da fonteVenditti, Charles P., Piper Hunt, Alan Donnenfeld, Elaine Zackai e Nancy B. Spinner. "Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies". American Journal of Medical Genetics 124A, n.º 3 (2003): 274–79. http://dx.doi.org/10.1002/ajmg.a.20430.
Texto completo da fonteWyss, Danielle, Celia D. DeLozier, James Daniell e Eric Engel. "Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases". Clinical Genetics 21, n.º 2 (23 de abril de 2008): 145–59. http://dx.doi.org/10.1111/j.1399-0004.1982.tb00752.x.
Texto completo da fonteMyers, T. L., e L. A. Prouty. "Non-mosaic trisomy 20 in amniotic fluid cultures with minor anomalies in the fetus". Clinical Genetics 35, n.º 4 (28 de junho de 2008): 233–36. http://dx.doi.org/10.1111/j.1399-0004.1989.tb02936.x.
Texto completo da fonteBower, K. L., N. R. Dennis, D. Wellesley, C. P. R. Williams, P. Hodgkins, C. Tyreman, C. E. Browne e J. C. K. Barber. "New case of “Apple-Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy". American Journal of Medical Genetics Part A 117A, n.º 2 (12 de outubro de 2001): 200–201. http://dx.doi.org/10.1002/ajmg.a.10035.
Texto completo da fonteMešanović, Semir, Milan Perić e Aneta Vareškić. "Prenatal Screening of Cytogenetic Anomalies -A Ten Year Retrospective Study on 1510 Cases". European Journal of Medical and Health Sciences 5, n.º 3 (24 de junho de 2023): 70–73. http://dx.doi.org/10.24018/ejmed.2023.5.3.1804.
Texto completo da fonteMokhtar, M. M., A. M. Abdel Aziz, N. A. Nazmy e H. S. Mahrous. "Cytogenetic profile of Down syndrome in Alexandria, Egypt". Eastern Mediterranean Health Journal 9, n.º 1-2 (2 de abril de 2003): 37–44. http://dx.doi.org/10.26719/2003.9.1-2.37.
Texto completo da fonteIsik, Sevgi, Gulcin Gunden, Eren Gunduz, Olga Meltem Akay, Abdulvahap Aslan, Hulya Ozen, Oguz Cilingir et al. "An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3". Cytogenetic and Genome Research 161, n.º 10-11 (2021): 479–87. http://dx.doi.org/10.1159/000520242.
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