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Showing 13 to 24 of 33 entries
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Interstitial translocations.

Lancet (London, England)

Gray JE.
PMID: 4116277
Lancet. 1972 Oct 14;2(7781):830. doi: 10.1016/s0140-6736(72)92200-3.

No abstract available.

Isolated clonal cytogenetic abnormalities after high-dose therapy: do they matter?.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Gerber JM.
PMID: 24953018
Biol Blood Marrow Transplant. 2014 Aug;20(8):1077-8. doi: 10.1016/j.bbmt.2014.06.021. Epub 2014 Jun 20.

No abstract available.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

American journal of medical genetics. Part A

Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D.
PMID: 24311194
Am J Med Genet A. 2014 Feb;164(2):377-85. doi: 10.1002/ajmg.a.36279. Epub 2013 Dec 05.

Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain...

Genotyping techniques to address diversity in tumors.

Advances in cancer research

Lindgren D, Höglund M, Vallon-Christersson J.
PMID: 21925304
Adv Cancer Res. 2011;112:151-82. doi: 10.1016/B978-0-12-387688-1.00006-5.

Array-based genotyping platforms have during recent years been established as a valuable tool for the characterization of genomic alterations in cancer. The analysis of tumor samples, however, presents challenges for data analysis and interpretation. For example, tumor samples are...

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

Prenatal diagnosis

Chitty LS, Hudgins L, Norton ME.
PMID: 29417608
Prenat Diagn. 2018 Feb;38(3):160-165. doi: 10.1002/pd.5216.

Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More...

The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.

American journal of obstetrics and gynecology

Sagi-Dain L, Singer A, Segel R, Berger R, Kanengisser-Pines B, Maya I.
PMID: 34052193
Am J Obstet Gynecol. 2021 Sep;225(3):333.e1-333.e14. doi: 10.1016/j.ajog.2021.05.022. Epub 2021 May 27.

BACKGROUND: Evidence comparing the yield of chromosomal microarray analysis to noninvasive prenatal screening in pregnancies with congenital heart anomalies is currently limited.OBJECTIVE: This study aimed to examine the residual risk of clinically significant chromosomal microarray analysis results in fetuses...

Human Genetic Mutant Cell Repository.

Cytogenetics and cell genetics

[No authors listed]
PMID: 4780771
Cytogenet Cell Genet. 1973;12(5):367-73. doi: 10.1159/000130475.
Free Article

No abstract available.

[Chromosome deviations in hematological diseases].

Lakartidningen

Mitelman F, Brandt L, Nilsson PG, Westin J, Robért KH.
PMID: 6621195
Lakartidningen. 1983 Jun 29;80(26):2649-59.

No abstract available.

Chromosomal analysis in epilepsy.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

Sultan T, Malik MA, Khan MM.
PMID: 17553337
J Coll Physicians Surg Pak. 2007 May;17(5):309. doi: 05.2007/JCPSP.309310.

No abstract available.

dbCRID: a database of chromosomal rearrangements in human diseases.

Nucleic acids research

Kong F, Zhu J, Wu J, Peng J, Wang Y, Wang Q, Fu S, Yuan LL, Li T.
PMID: 21051346
Nucleic Acids Res. 2011 Jan;39:D895-900. doi: 10.1093/nar/gkq1038. Epub 2010 Nov 04.

Chromosomal rearrangement (CR) events result from abnormal breaking and rejoining of the DNA molecules, or from crossing-over between repetitive DNA sequences, and they are involved in many tumor and non-tumor diseases. Investigations of disease-associated CR events can not only...

[Cytogenetic check-up and treatment of cancer patients].

Voprosy onkologii

Monakhov AS, Semiglazov VF, Vagner RI, Guliaev AV, Anisimov VV, Barchuk AS.
PMID: 19069468
Vopr Onkol. 2008;54(5):565-72.

No abstract available.

MicroRNAs and chromosomal abnormalities in cancer cells.

Oncogene

Calin GA, Croce CM.
PMID: 17028600
Oncogene. 2006 Oct 09;25(46):6202-10. doi: 10.1038/sj.onc.1209910.

Over the past five decades, a plethora of nonrandom chromosomal abnormalities have been consistently reported in malignant cells facilitating the identification of cancer-associated protein coding oncogenes and tumor suppressors. The genetic dissection of hot spots for chromosomal abnormalities in...

Showing 13 to 24 of 33 entries