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A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.
Yu YE, Morishima M, Pao A, Wang DY, Wen XY, Baldini A, Bradley A. Yu YE, et al. Genetics. 2006 May;173(1):297-307. doi: 10.1534/genetics.105.054833. Epub 2006 Feb 19. Genetics. 2006. PMID: 16489219 Free PMC article.
Patients who carry constitutional deletions of 17q21.3-q24 exhibit distinct phenotypic features. Within the deletion interval, there is a genomic segment that is bounded by the myeloperoxidase and homeobox B1 genes. ...The cardiovascular phenotype of the Df(11)18/+ …
Patients who carry constitutional deletions of 17q21.3-q24 exhibit distinct phenotypic features. Within the deletion interval, …
Chromosomal localization of the human NF-E2 family of bZIP transcription factors by fluorescence in situ hybridization.
Chan JY, Cheung MC, Moi P, Chan K, Kan YW. Chan JY, et al. Hum Genet. 1995 Mar;95(3):265-9. doi: 10.1007/BF00225191. Hum Genet. 1995. PMID: 7868116
Chromosomal localization by fluorescence in situ hybridization demonstrates that these genes are non-syntenic. p45-NF-E2 mapped to chromosome 12q13.1-13.3, whereas Nrf1 and 2 mapped to 17q21.3 and 2q31, respectively. However, these three genes were probably derived …
Chromosomal localization by fluorescence in situ hybridization demonstrates that these genes are non-syntenic. p45-NF-E2 mapped to chromosom …
High rate of disease-related copy number variations in childhood onset schizophrenia.
Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner JT, Hakonarson H, Lencz T, State MW, Shugart YY, Rapoport JL. Ahn K, et al. Mol Psychiatry. 2014 May;19(5):568-72. doi: 10.1038/mp.2013.59. Epub 2013 May 21. Mol Psychiatry. 2014. PMID: 23689535 Free PMC article.
Five of 15 (4.0% of the sample) had a 2.5-3 Mb deletion mapping to 22q11.2, a rate higher than that reported for adult onset (0.3-1%) (P<0.001) or autism spectrum disorder and, indeed, the highest rate reported for any clinical population to date. For one COS subject, a dup …
Five of 15 (4.0% of the sample) had a 2.5-3 Mb deletion mapping to 22q11.2, a rate higher than that reported for adult onset (0.3-1%) (P< …
Systems consequences of amplicon formation in human breast cancer.
Inaki K, Menghi F, Woo XY, Wagner JP, Jacques PÉ, Lee YF, Shreckengast PT, Soon WW, Malhotra A, Teo AS, Hillmer AM, Khng AJ, Ruan X, Ong SH, Bertrand D, Nagarajan N, Karuturi RK, Miranda AH, Liu ET. Inaki K, et al. Genome Res. 2014 Oct;24(10):1559-71. doi: 10.1101/gr.164871.113. Epub 2014 Sep 3. Genome Res. 2014. PMID: 25186909 Free PMC article.
In a detailed reconstruction of events on chromosome 17, we found large unpaired inversions and deletions connect a tandemly duplicated ERBB2 with neighboring 17q21.3 amplicons while simultaneously deleting the intervening BRCA1 tumor suppressor locus. ...Usi …
In a detailed reconstruction of events on chromosome 17, we found large unpaired inversions and deletions connect a tandemly duplicated …