Academic literature on the topic '19p13.3'
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Journal articles on the topic "19p13.3"
Swan, L., and D. Coman. "Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion." Case Reports in Genetics 2018 (2018): 1–5. http://dx.doi.org/10.1155/2018/2492437.
Full textIshikawa, Aki, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno, and Kenji Kurosawa. "Pure duplication of 19p13.3." American Journal of Medical Genetics Part A 161, no. 9 (July 29, 2013): 2300–2304. http://dx.doi.org/10.1002/ajmg.a.36041.
Full textSgardioli, Ilária C., Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira, and Vera L. Gil-da-Silva-Lopes. "A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3." Cytogenetic and Genome Research 156, no. 2 (2018): 80–86. http://dx.doi.org/10.1159/000493283.
Full textRisheg, Hiba, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg, et al. "Clinical Comparison of Overlapping Deletions of 19p13.3." American Journal of Medical Genetics Part A 161, no. 5 (April 22, 2013): 1110–16. http://dx.doi.org/10.1002/ajmg.a.35923.
Full textSingh, Vertika, Renu Bala, Arijit Chakraborty, Singh Rajender, Sameer Trivedi, and Kiran Singh. "Duplications in 19p13.3 are associated with male infertility." Journal of Assisted Reproduction and Genetics 36, no. 10 (August 16, 2019): 2171–79. http://dx.doi.org/10.1007/s10815-019-01547-1.
Full textAso, Teijiro, Peter Tsai, Tatsuo Kawaguchi, Joan C. Menninger, Shigetaka Kitajima, Yukio Yasukochi, David C. Ward, and Sherman M. Weissman. "Assignment of the Human GTF2F1 Gene to Chromosome 19p13.3." Genomics 16, no. 1 (April 1993): 252–53. http://dx.doi.org/10.1006/geno.1993.1168.
Full textAl-Othman, Abdallah Ahmad, Mir Sadat-Ali, Ahmed Sh Amer, and Dakheel A. Al-Dakheel. "Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls." Asian Spine Journal 11, no. 2 (April 30, 2017): 167–73. http://dx.doi.org/10.4184/asj.2017.11.2.167.
Full textLiaquat, S., R. Riley, G. Massey, and W. T. Gunning. "Unique case of 19p13 syndrome with storage pool disease." American Journal of Clinical Pathology 156, Supplement_1 (October 1, 2021): S104. http://dx.doi.org/10.1093/ajcp/aqab191.221.
Full textDi Blasi, Claudia, Behzad Moghadaszadeh, Claudia Ciano, Tiziana Negri, Alessio Giavazzi, Ferdinando Cornelio, Lucia Morandi, and Marina Mora. "Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy." Annals of Neurology 56, no. 1 (2004): 133–38. http://dx.doi.org/10.1002/ana.20158.
Full textCapela de Matos, Roberto R., Daniela R. Ney Garcia, Moneeb A. K. Othman, Gerson Moura Ferreira, Joana B. Melo, Isabel M. Carreira, Claus Meyer, et al. "A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia." Cytogenetic and Genome Research 157, no. 4 (2019): 213–19. http://dx.doi.org/10.1159/000499640.
Full textDissertations / Theses on the topic "19p13.3"
Curtain, Robert, and n/a. "Candidate Gene Analysis of Migraine Susceptibility Regions on Chromosome 1q and 19p." Griffith University. School of Medical Science, 2006. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20070810.132610.
Full textCurtain, Robert. "Candidate Gene Analysis of Migraine Susceptibility Regions on Chromosome 1q and 19p." Thesis, Griffith University, 2006. http://hdl.handle.net/10072/365960.
Full textThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Medical Science
Full Text
Mogk, Rhonda L. "Molecular analysis of a rare folate-sensitive fragile site located at 19p13.1, FRA19B." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ45099.pdf.
Full textSu, YenJui, and 蘇彥睿. "High Frequency of Loss of Heterozygosity on Chromosome 19p13.2-13.3 Suggests Multiple Putative Tumor Suppressor Genes of Breast Cancer." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/02277612628959845503.
Full text國立臺灣大學
流行病學研究所
90
Cancer is believed to arise from a series of genetic alterations, including activation of proto-oncogenes and/or inactivation of tumor suppressor genes. The two-hit hypothesis proposed by Knudson, indicating that two mutational events are necessary to inactivate both alleles of a tumor suppressor gene, and, more importantly, the same tumor suppressor genes are responsible for both inherited and sporadic forms of the same cancer. Because one of the two hits is commonly involved genetic loss of the locus harboring tumor suppressor gene, the identification of a high frequency of genomic deletion detected by allelic loss or loss of heterozygosity(LOH) in specific genomic regions is widely used to provide critical evidence about the location and importance of putative tumor suppressor genes. Germ-line mutations in the STK11/LKB1 gene on chromosome 19p13 are found to be the causes of the Peutz-Jeghers syndrome(PJS), in which intestinal hamartomas are associated with elevated risks of several cancer types, including breast cancer. However, subsequent studies failed to identify STK11/LKB1 mutation, which is seemingly inconsistent to the importance of this gene in breast cancer defined in PJS patients and high LOH frequency found in 19p13 in breast cancer. One common explanation for this inconsistent result suggests other breast cancer-associated genes may be located at the loci adjacent to STK11/LKB1, and are responsible for the high frequency of LOH observed at 19p. In order to know whether other genes are at the neighboring loci of STK11/LKB1, and to define the importance of STK11/LKB1, the present study performed high-resolution allelotyping for loss of heterozygosity (LOH) on 19p13.3-13.2, based on laser-capture-microdissected tumor tissues from 140 breast cancers patients. A total of 24 microsatellite markers at these loci were employed to define the contribution of 19p13.3-13.2 in breast cancer development. The results show that:(1)Five commonly deleted regions(CDRs) are identified on chromosome 19p13.3-13.2, including D19S814-D19S565 (the STK11/LKB1 gene locus), and D19S894-D19S884 (the SAFB gene locus). These suggest STK11/LKB1 gene and SAFB gene may play an important role in breast cancer development. (2)Frequent allele loss we found in other three CDRs of chromosome 19p13.3-13.2 may harbor unknown tumor suppressor genes. (3)High LOH frequency in these CDRs supports the importance of allelic loss on chromosome 19p13.3-13.2 during breast tumorigenesis. (4)The frequency of the fractional allele loss(FAL) of chromosome 19p13.3-13.2 is found to be significantly associated with increasing grade of breast cancer differentiation (p=0.01).(5) Multiple genes on 19p13.3-13.2 may synergitically contribute to breast cancer progression.
Book chapters on the topic "19p13.3"
"CD54 (19p13.3-p13.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 288. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_2505.
Full text"Hypocalciuric Hypercalciuria (HHC2, 19p13.3)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 945. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_8099.
Full text"Hypogonadotropic Hypogonadism (19p13.3, 9q34.3)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 946. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_8113.
Full text"ICAM (CD54, intercellular adhesion molecule, 19p13.3-p13.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 951–52. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_8166.
Full text"Methyltransferase, DNA (dnmt1, dnmt1-b, 19p13.3-p13.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1201. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_10292.
Full textBabey, Muriel, and Dolores M. Shoback. "Familial Hypocalciuric Hypercalcaemia Types 1–3 and Neonatal Severe Primary Hyperparathyroidism." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple, 673–84. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0084.
Full text"Rabson-Mendenhall Syndrome (19p13.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1619. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_13978.
Full text"Donohue Syndrome (Leprechaunism, 19p13.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 550. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4785.
Full text"Polycystic Liver Disease; (PCLD, 19p13.2-p13.1)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1528. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_13177.
Full text"Aicardi-Goutières Syndrome (AGS1 3p21; AGS2 13q14.3, AGS3 11q13.2, AGS4 19p13.13)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 50. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_421.
Full textConference papers on the topic "19p13.3"
Lawrenson, Kate, Siddhartha Kar, Karoline Kuckenbaeker, Stacey Edwards, Qiyuan Li, Jonathan Tyrer, Jonathan Beesley, et al. "Abstract 2783: Common functional mechanisms underlying pleiotropy at the 19p13.1 breast and ovarian cancer cusceptibility locus." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-2783.
Full textXu, Z., H. Xing, L. Wang, H. Zhou, and Y. Gu. "Abstract P4-04-11: Correlation study of gene polymorphisms on 19p13.1 with triple negative breast cancer." In Abstracts: Thirty-Sixth Annual CTRC-AACR San Antonio Breast Cancer Symposium - Dec 10-14, 2013; San Antonio, TX. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/0008-5472.sabcs13-p4-04-11.
Full textBolton, Kelly L., Jonathan Tyrer, Honglin Song, Susan Ramus, Chris Jones, Maria Notaridou, Stephen J. Chanock, et al. "Abstract 4729: A genome-wide association study of ovarian cancer prognosis identifies a novel locus for aggressive serous cancer on 19p13." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-4729.
Full textReports on the topic "19p13.3"
Oesterreich, Steffi. Rapid Screen for Tumor Suppressor Genes on Chromosome 19p13. Fort Belvoir, VA: Defense Technical Information Center, September 2001. http://dx.doi.org/10.21236/ada400057.
Full textOesterreich, Steffi. Rapid Screen for Tumor Suppressor Genes on Chromosome 19p13. Fort Belvoir, VA: Defense Technical Information Center, September 2002. http://dx.doi.org/10.21236/ada410864.
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