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Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W. Chen CP, et al. Gene. 2013 Oct 15;529(1):163-8. doi: 10.1016/j.gene.2013.07.050. Epub 2013 Aug 8. Gene. 2013. PMID: 23933417
The cord blood had a karyotype of 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]. The placenta had a karyotype of 46,XY,mar(13)[31]/45,XY,-13[3]. Metaphase FISH confirmed that the marker chromosomes in placenta were derived from chromosome 13. aCGH on cultu …
The cord blood had a karyotype of 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]. The placenta had a karyotype of 46,XY,mar(13)[31] …
Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.
Farkas G, Székely G, Goda V, Kállay KM, Kocsis ZS, Szakszon K, Benyó G, Erdélyi D, Liptai Z, Csordás K, Kertész G, Szegedi I, Kriván G, Takácsi-Nagy Z, Polgár C, Jurányi Z. Farkas G, et al. Eur J Haematol. 2023 Aug;111(2):254-262. doi: 10.1111/ejh.13990. Epub 2023 May 16. Eur J Haematol. 2023. PMID: 37194391
Seven patients showed increased radiation sensitivity. Both dicentric + ring, and total aberrations were significantly higher at 3 and 6 Gy compared to controls. ...
Seven patients showed increased radiation sensitivity. Both dicentric + ring, and total aberrations were significantly higher at 3 an …
Double aortic arch: implications of antenatal diagnosis, differential growth of arches during pregnancy, associated abnormalities and postnatal outcome.
Bartsota M, Jowett V, Manuel D, Mortensen K, Wolfenden J, Marek J, Carvalho JS. Bartsota M, et al. Ultrasound Obstet Gynecol. 2023 Jul;62(1):69-74. doi: 10.1002/uog.26186. Epub 2023 Jun 9. Ultrasound Obstet Gynecol. 2023. PMID: 36864493
RESULTS: A total of 79 fetuses with DAA were included. Of those assessed postnatally, 48.6% had an atretic left aortic arch (LAA), while 5.1% had an atretic LAA at the first fetal scan and were misdiagnosed antenatally with right aortic arch (RAA). ...Statistical analysis …
RESULTS: A total of 79 fetuses with DAA were included. Of those assessed postnatally, 48.6% had an atretic left aortic arch (LAA), wh …
Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases.
Yakut S, Çetin Z, Şİmşek M, Mendilcioğlu II, Toru HS, Berker Karaüzüm S, Lüleci G. Yakut S, et al. Turk Patoloji Derg. 2015;31(1):36-44. doi: 10.5146/tjpath.2014.01280. Turk Patoloji Derg. 2015. PMID: 25301051 Free article.
The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and …
The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanc …
Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment.
Sirvent N, Maire G, Pedeutour F. Sirvent N, et al. Genes Chromosomes Cancer. 2003 May;37(1):1-19. doi: 10.1002/gcc.10202. Genes Chromosomes Cancer. 2003. PMID: 12661001 Review.
At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using fluorescence in situ hybridization techniques to be derived from chromosome 22 and to contain low-level amplified sequences from 17q2 …
At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using …
Therapy-related myeloid neoplasms following treatment with radioiodine.
Schroeder T, Kuendgen A, Kayser S, Kröger N, Braulke F, Platzbecker U, Klärner V, Zohren F, Haase D, Stadler M, Schlenk R, Czibere AG, Bruns I, Fenk R, Gattermann N, Haas R, Kobbe G, Germing U. Schroeder T, et al. Haematologica. 2012 Feb;97(2):206-12. doi: 10.3324/haematol.2011.049114. Epub 2011 Oct 11. Haematologica. 2012. PMID: 21993688 Free PMC article.
BACKGROUND: Few data are available on therapy-related myelodysplastic syndromes and acute myeloid leukemia developing after radioiodine treatment. ...RESULTS: With a median latency of 79 months, 18 patients developed therapy-related acute myeloid leukemia and 21 pre …
BACKGROUND: Few data are available on therapy-related myelodysplastic syndromes and acute myeloid leukemia developing after radioiodi …
Change in HER2 (ERBB2) gene status after taxane-based chemotherapy for breast cancer: polyploidization can lead to diagnostic pitfalls with potential impact for clinical management.
Valent A, Penault-Llorca F, Cayre A, Kroemer G. Valent A, et al. Cancer Genet. 2013 Jan-Feb;206(1-2):37-41. doi: 10.1016/j.cancergen.2012.12.001. Epub 2013 Jan 10. Cancer Genet. 2013. PMID: 23313108
This status change can be a consequence of the natural evolution of the tumor or can be induced by therapy. The HER2 gene status is, in the majority of cases, established at the moment of diagnosis. ...We recommend careful checking of invasive breast carcinomas by suppleme …
This status change can be a consequence of the natural evolution of the tumor or can be induced by therapy. The HER2 gene status is, …
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Baldwin EL, et al. Am J Hum Genet. 2008 Feb;82(2):398-410. doi: 10.1016/j.ajhg.2007.10.013. Am J Hum Genet. 2008. PMID: 18252220 Free PMC article.
The latter cases are consistent with ring-chromosome formation by centromere misdivision, as first described by McClintock in maize. In one case, a r(4) containing approximately 4.4 Mb of unique DNA from 4p was also present in the proband's mother. However, FISH rev …
The latter cases are consistent with ring-chromosome formation by centromere misdivision, as first described by McClintock in …