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Year Number of Results
1993 1
1994 5
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17 results

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Page 1
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were bet …
Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detecte …
Detailed deletion mapping of chromosome 17q in ovarian and breast cancers: 2-cM region on 17q21.3 often and commonly deleted in tumors.
Saito H, Inazawa J, Saito S, Kasumi F, Koi S, Sagae S, Kudo R, Saito J, Noda K, Nakamura Y. Saito H, et al. Cancer Res. 1993 Jul 15;53(14):3382-5. Cancer Res. 1993. PMID: 8100738
Loss of heterozygosity was observed in 33 of 84 (39.3%) ovarian and in 88 of 214 (41.1%) breast cancers that were informative with at least one marker. Detailed deletion mapping of chromosome 17q in these cancers identified two distinct, commonly deleted regions. On …
Loss of heterozygosity was observed in 33 of 84 (39.3%) ovarian and in 88 of 214 (41.1%) breast cancers that were informative with at least …
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. …
In a detailed reconstruction of events on chromosome 17, we found large unpaired inversions and deletions connect a tandemly duplicat …
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.
Several constitutional chromosomal rearrangements occur on human chromosome 17. 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 …
Several constitutional chromosomal rearrangements occur on human chromosome 17. Patients who carry constitutional deletions of 17q …
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 …
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%) …
Human gastric adenocarcinoma allelotype on chromosomes 17 and 18.
Yu JC, Zhou H, Bai J, Yu Y, Geng JS, Qi JP, Fu SB. Yu JC, et al. J Int Med Res. 2008 Mar-Apr;36(2):279-88. doi: 10.1177/147323000803600210. J Int Med Res. 2008. PMID: 18380938 Free article.
Allelic losses of multiple chromosome loci in gastric adenocarcinoma suggest that inactivation of tumour suppressor genes in these regions may be important for tumourigenesis. To define deletion intervals and find candidate tumour suppressor genes involved in gastric adeno …
Allelic losses of multiple chromosome loci in gastric adenocarcinoma suggest that inactivation of tumour suppressor genes in these regions m …
Evidence for a multifocal origin of papillary serous carcinoma of the peritoneum.
Muto MG, Welch WR, Mok SC, Bandera CA, Fishbaugh PM, Tsao SW, Lau CC, Goodman HM, Knapp RC, Berkowitz RS. Muto MG, et al. Cancer Res. 1995 Feb 1;55(3):490-2. Cancer Res. 1995. PMID: 7834614
Allelic losses at 4 loci (1q32-qter, 3p14.3-21.1, 17q12, 17q21.3-23) were noted. Three cases demonstrated a different pattern of allelic loss at various anatomic sites within the same patient. In an additional case, a mutation of the p53 gene, detected by qua …
Allelic losses at 4 loci (1q32-qter, 3p14.3-21.1, 17q12, 17q21.3-23) were noted. Three cases demonstrated a different pattern …
Genetic events during the transformation of a tamoxifen-sensitive human breast cancer cell line into a drug-resistant clone.
Achuthan R, Bell SM, Roberts P, Leek JP, Horgan K, Markham AF, MacLennan KA, Speirs V. Achuthan R, et al. Cancer Genet Cytogenet. 2001 Oct 15;130(2):166-72. doi: 10.1016/s0165-4608(01)00475-7. Cancer Genet Cytogenet. 2001. PMID: 11675139
These differences included the amplification of 2p16.3 approximately p23.2, 2q21 approximately q34, 3p12.3 approximately p14.1, 3p22 approximately p26, 3q, 12q13.2 approximately q22, 13q12 approximately q14, 17q21.3 approximately q23, 20q11.2 approximately q13.1 and …
These differences included the amplification of 2p16.3 approximately p23.2, 2q21 approximately q34, 3p12.3 approximately p14.1, 3p22 approxi …
Amplification of ERBB2, RARA, and TOP2A genes in a myelodysplastic syndrome transforming to acute myeloid leukemia.
Martín-Subero JI, Harder L, Gesk S, Schoch R, Novo FJ, Grote W, Calasanz MJ, Schlegelberger B, Siebert R. Martín-Subero JI, et al. Cancer Genet Cytogenet. 2001 Jun;127(2):174-6. doi: 10.1016/s0165-4608(00)00431-3. Cancer Genet Cytogenet. 2001. PMID: 11425459
The median copy number of ERBB2, RARA, and TOP2A genes in the tumor cells was six (range: 4--10). Only one copy of the MPO gene at 17q21.3 was detected, suggesting a deletion of the telomeric part of 17q. To our knowledge, this is the first report of a …
The median copy number of ERBB2, RARA, and TOP2A genes in the tumor cells was six (range: 4--10). Only one copy of the MPO gene at …
Prognostic significance of the loss of heterozygosity of Nm23-H1 and p53 genes in human colorectal carcinomas.
Campo E, Miquel R, Jares P, Bosch F, Juan M, Leone A, Vives J, Cardesa A, Yague J. Campo E, et al. Cancer. 1994 Jun 15;73(12):2913-21. doi: 10.1002/1097-0142(19940615)73:12<2913::aid-cncr2820731207>3.0.co;2-l. Cancer. 1994. PMID: 8199988
Nm23 is localized on chromosome 17q21.3-22, whereas the p53 suppressor gene is on 17p13. Allelic deletions of chromosome 17 have been related to the progression of colorectal carcinomas. ...The loss of this gene seems to be part of extensive …
Nm23 is localized on chromosome 17q21.3-22, whereas the p53 suppressor gene is on 17p13. Allelic deletions of ch …
17 results