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Browse Chromosome abnormalities topic

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1-94 out of 94 article(s)
Title Author Type Date Words
6q25.1-q25.3 Microdeletion in a Chinese Girl. Zhong, Mian-Ling; Song, Ye-Mei; Zou, Chao-Chun Clinical report Mar 1, 2021 2840
Additional cytogenetic abnormalities in chronic myeloid leukaemia; an experience from Pakistan. Anwar, Nida; Nadeem, Muhammad; Khurram, Sana; Fatima, Naveena; Shamsi, Tahir Report Feb 28, 2021 1505
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Larson, Daniel P.; Akkari, Yassmine M.; Van Dyke, Daniel L.; Raca, Gordana; Gardner, Juli-Anne; Rehd Report Feb 1, 2021 6674
Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. Hu, Ting; Zhang, Zhu; Wang, Jiamin; Li, Qinqin; Zhu, Hongmei; Lai, Yi; Wang, He; Liu, Shanling Nov 30, 2019 7706
Evaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families. Report Apr 30, 2019 3054
Cytogenetic Studies of Chromosome Abnormalities in Thyroid Cancer Patients Before and After Iodine-131 Treatment. Oden, Seda; Atasoy, Sezen; Demir, Mustafa; Deviren, Ayhan Apr 1, 2019 3809
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE: NORMAL KARYOTIPLI PATOLOJIK ULTRASON BULGUSU OLAN FETUSLARDA MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) UYGULAMALARI. Toksoy, Guven; Karaman, Birsen; Uyguner, Zehra Oya; Yilmaz, Kader; Has, Recep; Kayserili, Hulya; Min Report Mar 1, 2019 4304
CLINICAL AND KARYOTYPIC PROFILE OF CHILDREN WITH DYSMORPHOLOGY. Narendran, Nisha; Ravi, Manoj; Jose, Rajany Report Jan 28, 2019 3994
Optimization of Spirulina Platensis Biomass and Evaluation of its Protective Effect Against Chromosomal Aberrations of Bone Marrow Cells. Abou Gabal, Ashgan A.; Khaled, Ahemd E. M.; El-Sayed, Heba Saad; Aboul-Ela, Haiam M.; Shalaby, Ola K Jan 1, 2019 4932
The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report. Saberzadeh, Jamileh; Miri, Mohammad Reza; Dianatpour, Mehdi; Behbahani, Abbas Behzad; Tabei, Mohamma Case study Jan 1, 2019 2293
A Six-year Analysis Report at the Cytogenetics Department of National Institute of Health Islamabad, Pakistan. Report Dec 31, 2018 3876
Chromosomal Aberrations Associated with Sequential Steps of the Metastatic Cascade in Colorectal Cancer Patients. Joosse, Simon A.; Souche, Francois-Regis; Babayan, Anna; Gasch, Christin; Kerkhoven, Ron M.; Ramos, Clinical report Oct 1, 2018 4783
Evaluation of Seminal Plasma Antioxidants and Serum Male Hormones Status in Infertile Patients with Unbalanced Chromosomal Abnormalities. Ali, Assila Hadj; Mahdi, Meriem; Ajina, Tesnim; Saad, Ali; Ali, Habib Ben Mar 1, 2018 3968
Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome. Mermer, Serdar; Ozek, Murat; Percin, Ferda; Karaoguz, Meral; Bayram, Merih Report Mar 1, 2018 1391
Measuring Co-authorship Pattern in Research Output of Chromosome Anomalies. Nishavathi, Elangovan; Jeyshankar, Ramalingam Report Mar 1, 2018 6067
RING CHROMOSOME 3 IN A CASE WITH MICROCEPHALY AND GROWTH RETARDATION. Akgun, Bilcag; Isik, Esra; Atik, Tahir; Bolat, Hilmi; Pariltay, Erhan; Akin, Haluk; Cogulu, Ozgur; O Report Jun 1, 2017 313
8Q22.3-Q24.23 Duplication: A Case Report. Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Ozer, Leyla; Sezgin, Ilhan Clinical report Jun 1, 2017 246
New Chromosomal ins(6;7)(Q13:P22) Anomaly in Klinefelter Syndrome Detected Coincidentally in Patient with Signs of Primary Hypogonadism. Topaloglu, Omercan; Evren, Bahri; Yasar, Emine; Sahin, Ibrahim Case study Jun 1, 2017 327
New Developments in Salivary Gland Pathology: Clinically Useful Ancillary Testing and New Potentially Targetable Molecular Alterations. Griffith, Christopher C.; Schmitt, Alessandra C.; Little, James L.; Magliocca, Kelly R. Report Mar 1, 2017 14431
Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations. Yu, Stephanie C.Y.; Jiang, Peiyong; Chan, K.C. Allen; Faas, Brigitte H.W.; Choy, Kwong W.; Leung, Wi Report Feb 1, 2017 5864
What Drives Embryo Development? Chromosomal Normality or Mitochondria? Bayram, A.; Elkhatib, I.; Arnanz, A.; Linan, A.; Ruiz, F.; Lawrenz, B.; Fatemi, H.M. Clinical report Jan 1, 2017 2260
Sequential Kinase Inhibition (Idelalisib/Ibrutinib) Induces Clinical Remission in B-Cell Prolymphocytic Leukemia Harboring a 17p Deletion. Coelho, H.; Badior, M.; Melo, T. Clinical report Jan 1, 2017 2324
Homozygosity for a Robertsonian translocation (13q;14q) in a phenotypically normal 44, XX female with a history of recurrent abortion and a normal pregnancy outcome. Miryounesi, Mohammad; Diantpour, Mehdi; Motevaseli, Elahe; Ghafouri-Fard, Soudeh Clinical report Jul 1, 2016 1974
Effects of Enhanced Ultraviolet-B Radiation on Chromosomes and Microtubule Arrays in Wheat Roots. Report Jun 30, 2016 2497
National moot on Metabolic, Genetic, and Chromosomal Disorders. Mar 14, 2016 405
Pentalogy of Cantrell in twins: a case report/ Kantrelova pentalogija ublizanackoj trudnoci: prikaz slucaja. Sabo, Jelena R. Ilic; Boskovic, Tamara J.; Zivojinov, Mirjana M.; Levakov, Aleksandra M. Fejsa Case study Nov 1, 2015 1360
Cytogenetic Effects of Heptaplatin on SWR/J Mouse Bone Marrow Cells. Al-Anazi, Khalid M. Report Aug 31, 2015 3047
A rare de novo balanced X; 1 translocation in an Indian female with primary amenorrhea. Venkateshwari, Ananthapur; Srilekha, Avvari; Veena, Koka; Sujatha, Madireddy; Jyothy, Akka Clinical report Jul 1, 2015 1600
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Zhao, Chen; Tynan, John; Ehrich, Mathias; Hannum, Gregory; McCullough, Ron; Saldivar, Juan-Sebastian Report Apr 1, 2015 5178
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR. Pretto, Dalyir; Maar, Dianna; Yrigollen, Carolyn M.; Regan, Jack; Tassone, Flora Report Jan 1, 2015 4793
Biochemical and genetic diagnosis of Smith-Lemli-Opitz syndrome in South Africa. Solomon, G.A.E.; Jones, G.; de Jong, G.; Marais, A.D. Clinical report Jan 1, 2015 3460
Effects of exogenous application of ascorbic acid on genotoxicity of Pb in Vicia faba roots. Yu, Cui-Mei; Xie, Fu-Di; Ma, Lian-Ju Report Aug 31, 2014 3183
Effect of met-enkephalin on chromosomal aberrations in the lymphocytes of the peripheral blood of patients with multiple sclerosis. Rakanovic-Todic, Maida; Burnazovic-Ristic, Lejla; Ibrulj, Slavka; Mulabegovic, Nedzad Report May 1, 2014 3405
A new model for providing cell-free DNA and risk assessment for chromosome abnormalities in a public hospital setting. Wallerstein, Robert; Jelks, Andrea; Garabedian, Matthew J. Author abstract Jan 1, 2014 4754
The effects of biological and life-style factors on baseline frequencies of chromosome aberrations in human lymphocytes. Nefic, Hilada; Musanovic, Jasmin Report Jan 1, 2014 7577
Prenatal diagnosis of chromosome abnormalities: past, present, and future. Aypar, Umut; Thorland, Erik C.; Hoppman, Nicole Report Oct 1, 2013 1857
A new era in prenatal diagnosis: the use of cell-free fetal DNA in maternal circulation for detection of chromosomal aneuploidies. Shea, Jennifer L.; Diamandis, Eleftherios P.; Hoffman, Barry; Lo, Y.M. Dennis; Canick, Jacob; van de Report Aug 1, 2013 6888
Analysis of chromosomal aberrations and FLT3 gene mutations in childhood acute myelogenous leukemia patients / Cocukluk Cagi Akut Myeloid Losemi Hastalarinda Kromozomal Degisiklikler ve FLT3 Geni Mutasyonlarinin Arastirilmasi. Coskunpinar, Ender; Anak, Sema; Agaoglu, Leyla; Untivar, Ayegul; Devecioglu, Omer; Aydogan, Gonul; T Report Sep 1, 2012 4955
Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Jensen, Taylor J.; Dzakula, Zeljko; Deciu, Cosmin; van den Boom, Dirk; Ehrich, Mathias Report Jul 1, 2012 2382
Insulin resistance and polycystic ovary syndrome. Report Jun 30, 2012 1964
NIH scientists find that chromosomal abnormalities are associated with aging and cancer. Brief article May 7, 2012 179
Organochlorines and human sperm disomy. Brief article Apr 1, 2012 172
Environmental exposure to polychlorinated biphenyls and p,p'-DDE and sperm sex-chromosome disomy. McAuliffe, Megan E.; Williams, Paige L.; Korrick, Susan A.; Altshul, Larisa M.; Perry, Melissa J. Report Apr 1, 2012 7848
Wrongful birth claim: child has a chromosomal disorder. Brief article Oct 1, 2011 227
Genetic Testing. Sep 1, 2011 13013
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalia: a case study. Mazzaschi, Roberto L.P.; Love, Donald R.; George, Alice; Aftimos, Salim Case study Aug 1, 2011 1954
"Sex" is gift of nature. What if she betrays? Ashok, K.B. Report Aug 1, 2011 912
Journal abstracts: inhibitory effect of ascorbic acid post-treatment on radiation-induced chromosomal damage in human lymphocytes in vitro. Report Aug 1, 2010 183
Benzene and sperm aneuploidy. Brief article Jun 1, 2010 147
Increased nuchal translucency thickness and normal karyotype. Cilliers, J.B.F. Brief article Apr 1, 2010 343
Risk assessment by soft markers. du Toit, M. Brief article Apr 1, 2010 187
Aneuploidy screening--quo vadis? Geers, L. Apr 1, 2010 352
Predicting survival and mental and motor functioning in children with CNS abnormalities. Pistorius, L. Apr 1, 2010 473
Detection of chromosomal aberrations in renal tumors: a comparative study of conventional cytogenetics and virtual karyotyping with single-nucleotide polymorphism microarrays. Monzon, Federico A.; Alvarez, Karla; Gatalica, Zoran; Bridge, Julia A.; Nelson, Marilu; Kim, Hyun-Ju Clinical report Dec 1, 2009 4998
Infantile sandhoff's disease. Sass, Kimberly; Lemire, E. Case study Aug 1, 2009 2512
Association between frequency of chromosomal aberrations and cancer risk is not influenced by genetic polymorphisms in GSTM1 and GSTT1. Rossi, Anna Maria; Hansteen, Inger-Lise; Skjelbred, Camilla Furu; Ballardin, Michela; Maggini, Valen Report Feb 1, 2009 7214
A childhood acute lymphoblastic leukemia (ALL) case with t(3;17)(q23;p13),t(5;12)(q31;p13),inv(11)(p15q12)/t(3;17)(q23;p13),t(5;12) (q31;p13),inv(11)(p15q12) 'li bir cocukluk cagi akut lenfoblastik losemi (ALL) olgusu. Cirakoglu, Ayse; Tarkan-Arguden, Yelda; Deviren, Ayhan; Kuru, Dilhan; Yilmaz, Sukriye; Berrak, Su Gu Case study Sep 1, 2008 1694
22q11 deletion syndrome: a mystery no more. Umlauf, Mary Clinical report Aug 1, 2008 2430
Newborn screening for X-linked adrenoleukodystrophy on the horizon. Moser, Ann Jul 1, 2008 1256
Bread mold for better health. Frey, Randy Brief article Jun 1, 2008 142
Nuchal translucency in first-trimester screening. Brief article Apr 1, 2008 176
Loss of heterozygosity for chromosome 18q and microsatellite instability are highly consistent across the region of the DCC and SMAD4 genes in colorectal carcinomas and adenomas. Zauber, Peter; Sabbath-Solitare, Marlene; Marotta, Stephen P.; Bishop, Timothy Mar 1, 2008 4353
Down syndrome's anti-tumor effect. Seppa, Nathan Brief article Jan 12, 2008 244
Severe aortic obstruction in Williams-Beuren syndrome--a short case series. Naidoo, Jaishree; Hendson, Willy Dec 1, 2007 1486
New research study. Brief article Jul 1, 2007 97
Clinicopathologic aspects of 1p/19q loss and the diagnosis of oligodendroglioma. Aldape, Kenneth; Burger, Peter C.; Perry, Arie Clinical report Feb 1, 2007 6408
The heterogeneous distribution of monosomy 3 in uveal melanomas: implications for prognostication based on fine-needle aspiration biopsies. Maat, Willem; Jordanova, Ekaterina S.; van Zelderen-Bhola, Shama L.; Barthen, Ed R.; Wessels, Hans W Clinical report Jan 1, 2007 4119
High incidence of chromosome 1 abnormalities in a series of 27 renal oncocytomas: cytogenetic and fluorescence in situ hybridization studies. Paner, Gladell P.; Lindgren, Valerie; Jacobson, Kris; Harrison, Kathleen; Cao, Ying; Campbell, Steve Jan 1, 2007 4298
Case reports: Rieger syndrome. Skogedal, N.; Nordgarden, H. Disease/Disorder overview Jan 1, 2007 1753
Carrier couples have same chance of having healthy baby, despite miscarriages. Clinical report Aug 1, 2005 582
Prenatal exposure to pollution may damage chromosomes. Kilgore, Christine Brief Article Jun 1, 2005 251
Down syndrome demystified. Grant, Sophia Apr 1, 2005 576
Studies of chromosome rearrangement and gene fusions involving the human myeloid-lymphiod leukemia gene (MLL). Super, Heidi J.; Reinholdt, Michelle; Townsend, Jessica; Mueller, Stephanie; Pankrantz, Kyle Apr 1, 2005 570
Genes hold key to kindler syndrome Dx, management. Walsh, Nancy Oct 15, 2004 347
Diagnostic dilemma. Shilkofski, Nicole Apr 1, 2004 779
Heart defects associated with increased nuchal translucency: another use for screening. Sullivan, Michele G. Mar 1, 2004 517
Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis. (Case Reports). Matsuoka, Kentaro; Orikasa, Hideki; Eyden, Brian; Yamazaki, Kazuto Mar 1, 2002 1495
Identification of numerical chromosomal changes detected by interphase fluorescence in situ hybridization in high-grade prostate intraepithelial neoplasia as a predictor of carcinoma. Al-Maghrabi, Jaudah; Vorobyova, Lada; Toi, A.; Chapman, William; Zielenska, Maria; Squire, Jeremy A. Feb 1, 2002 3930
Advise Birth Control For at Least 100 Days After Etoposide. Kirn, Timothy F. Jan 15, 2001 217
Monosomics in Soybean: Origin, Identification, Cytology, and Breeding Behavior. Xu, S. J.; Singh, R. J.; Hymowitz, T. Statistical Data Included Jul 1, 2000 3680
Blood Test Finds Velocardiofacial Syndrome. Baker, Barbara Apr 15, 2000 227
Genetic Screening, Counseling Advised Before ICSI. BAKER, BARBARA Apr 1, 2000 568
Abortion Rates Drop in the Southeast. BAKER, BARBARA Jan 15, 2000 320
EWS-INTERACTING PROTEINS. NGUYEN, HAO; O'DROBINAK, DAVID Brief Article Jan 1, 2000 156
Early Sonography Identifies Most Chromosomal, Structural Anomalies. Bates, Betsy Nov 15, 1999 200
Sperm Count Tied To Aneuploidy. Arnold, Katherine Brief Article Oct 1, 1999 195
Absent protein causes chromosomal breakup. Travis, John Oct 21, 1995 642
Childhood leukemia: a genetic swap meet. Brief Article Nov 21, 1992 148
Neurofibromatosis type I: a case report and review of the literature. Holt, Worthe S., Jr.; Harsha, David M. May 1, 1992 3172
Mice reveal three epilepsy genes. Aug 24, 1991 466
Gene defect tied to Alzheimer's cases. Weiss, Rick Feb 23, 1991 398
Cystic fibrosis gene: too many mutants. Weiss, Rick Jul 28, 1990 430
Gene found for neurofibromatosis. Jul 28, 1990 327
Uneven inheritance: a genetic quirk leaves some people with a chromosomal odd couple. Weiss, Rick Jul 7, 1990 3105

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