Artículos de revistas sobre el tema "19p13.3"
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Swan, L. y 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.
Texto completoIshikawa, Aki, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno y Kenji Kurosawa. "Pure duplication of 19p13.3". American Journal of Medical Genetics Part A 161, n.º 9 (29 de julio de 2013): 2300–2304. http://dx.doi.org/10.1002/ajmg.a.36041.
Texto completoSgardioli, Ilária C., Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira y Vera L. Gil-da-Silva-Lopes. "A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3". Cytogenetic and Genome Research 156, n.º 2 (2018): 80–86. http://dx.doi.org/10.1159/000493283.
Texto completoRisheg, 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, n.º 5 (22 de abril de 2013): 1110–16. http://dx.doi.org/10.1002/ajmg.a.35923.
Texto completoSingh, Vertika, Renu Bala, Arijit Chakraborty, Singh Rajender, Sameer Trivedi y Kiran Singh. "Duplications in 19p13.3 are associated with male infertility". Journal of Assisted Reproduction and Genetics 36, n.º 10 (16 de agosto de 2019): 2171–79. http://dx.doi.org/10.1007/s10815-019-01547-1.
Texto completoAso, Teijiro, Peter Tsai, Tatsuo Kawaguchi, Joan C. Menninger, Shigetaka Kitajima, Yukio Yasukochi, David C. Ward y Sherman M. Weissman. "Assignment of the Human GTF2F1 Gene to Chromosome 19p13.3". Genomics 16, n.º 1 (abril de 1993): 252–53. http://dx.doi.org/10.1006/geno.1993.1168.
Texto completoAl-Othman, Abdallah Ahmad, Mir Sadat-Ali, Ahmed Sh Amer y Dakheel A. Al-Dakheel. "Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls". Asian Spine Journal 11, n.º 2 (30 de abril de 2017): 167–73. http://dx.doi.org/10.4184/asj.2017.11.2.167.
Texto completoLiaquat, S., R. Riley, G. Massey y W. T. Gunning. "Unique case of 19p13 syndrome with storage pool disease". American Journal of Clinical Pathology 156, Supplement_1 (1 de octubre de 2021): S104. http://dx.doi.org/10.1093/ajcp/aqab191.221.
Texto completoDi Blasi, Claudia, Behzad Moghadaszadeh, Claudia Ciano, Tiziana Negri, Alessio Giavazzi, Ferdinando Cornelio, Lucia Morandi y Marina Mora. "Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy". Annals of Neurology 56, n.º 1 (2004): 133–38. http://dx.doi.org/10.1002/ana.20158.
Texto completoCapela 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, n.º 4 (2019): 213–19. http://dx.doi.org/10.1159/000499640.
Texto completoSiggberg, L., P. Olsén, K. Näntö-Salonen y S. Knuutila. "19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development". Cytogenetic and Genome Research 132, n.º 1-2 (2011): 8–15. http://dx.doi.org/10.1159/000320920.
Texto completoAcierno Jr., James S., Jenna K. Shagoury, Yøusef Bo-Abbas, William F. Crowley Jr. y Stephanie B. Seminara. "A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3". Journal of Clinical Endocrinology & Metabolism 88, n.º 6 (junio de 2003): 2947–50. http://dx.doi.org/10.1210/jc.2003-030423.
Texto completoKaname, T., T. Miyauchi, A. Kuwano, Y. Matsuda, T. Muramatsu y T. Kajii. "Mapping basigin (BSG), a member of the immunoglobulin superfamily, to 19p13.3". Cytogenetic and Genome Research 64, n.º 3-4 (1993): 195–97. http://dx.doi.org/10.1159/000133573.
Texto completoJedlicka, A. E., E. W. Taylor, D. A. Meyers, Z. Liu y R. C. Levitt. "Localization of the highly polymorphic locus D19S120 to 19p13.3 by linkage". Cytogenetic and Genome Research 65, n.º 1-2 (1994): 140. http://dx.doi.org/10.1159/000133621.
Texto completoDescartes, Maria, Fady M. Mikhail, Judith C. Franklin, Tony M. McGrath y Martina Bebin. "Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia". Pediatric Neurology 45, n.º 4 (octubre de 2011): 274–78. http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.002.
Texto completoChan, Vivian, Gardian C. Y. Fong, Keith D. K. Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D. S. Lu y Tai-Kwong Chan. "A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3". American Journal of Human Genetics 71, n.º 2 (agosto de 2002): 401–6. http://dx.doi.org/10.1086/341607.
Texto completoYu, Guo-Yun, Michael J. Howell, Matthew J. Roller, Ting-Dong Xie y Christopher M. Gomez. "Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6". Annals of Neurology 57, n.º 3 (2005): 349–54. http://dx.doi.org/10.1002/ana.20371.
Texto completoArcher, H. L., S. Gupta, S. Enoch, P. Thompson, A. Rowbottom, I. Chua, S. Warren et al. "Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter". American Journal of Medical Genetics Part A 136A, n.º 1 (2005): 38–44. http://dx.doi.org/10.1002/ajmg.a.30774.
Texto completoFaivre, Laurence, André Mégarbané, Abdulrahman Alswaid, Louise Zylberberg, Noura Aldohayan, Ana Campos-Xavier, Delphine Bacq et al. "Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2". Human Genetics 110, n.º 4 (13 de marzo de 2002): 366–70. http://dx.doi.org/10.1007/s00439-002-0689-3.
Texto completoAin, Quratul, Sabiha Nazli, Saima Riazuddin, Ateeq-ul Jaleel, S. Amer Riazuddin, Ahmad U. Zafar, Shaheen N. Khan et al. "The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3". Human Genetics 122, n.º 5 (10 de agosto de 2007): 445–50. http://dx.doi.org/10.1007/s00439-007-0418-z.
Texto completoMatsufuji, Senya, Johji Inazawa, Takaaki Hayashi, Youichi Miyazaki, Tamotsu Ichiba, Akihiro Furusaka, Tamiko Matsufuji et al. "Assignment of the Human Antizyme Gene (OAZ) to Chromosome 19p13.3 by Fluorescencein SituHybridization". Genomics 38, n.º 1 (noviembre de 1996): 102–4. http://dx.doi.org/10.1006/geno.1996.0601.
Texto completoPuvabanditsin, Surasak, Eugene Garrow, Erik Brandsma, Jayshree Savla, Bgee Kunjumon y Inder Gadi. "Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review". American Journal of Medical Genetics Part A 149A, n.º 8 (16 de julio de 2009): 1782–85. http://dx.doi.org/10.1002/ajmg.a.32972.
Texto completoOlschwang, S., D. Markie, S. Seal, K. Neale, R. Phillips, S. Cottrell, I. Ellis et al. "Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3." Journal of Medical Genetics 35, n.º 1 (1 de enero de 1998): 42–44. http://dx.doi.org/10.1136/jmg.35.1.42.
Texto completoNevado, Julián, Jill A. Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, María Ángeles Mori, Jair A. Tenorio et al. "PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome". European Journal of Human Genetics 23, n.º 12 (8 de abril de 2015): 1615–26. http://dx.doi.org/10.1038/ejhg.2015.51.
Texto completoCozen, Wendy, Dalin Li, Maria Timofeeva, Arjan Diepstra, Dennis Hazelett, Manon Delahaye-Sourdeix, Christopher K. Edlund et al. "A Meta-Analysis Of Hodgkin Lymphoma Reveals 19p13.3 (TCF3) As a Novel Susceptibility Loc". Blood 122, n.º 21 (15 de noviembre de 2013): 626. http://dx.doi.org/10.1182/blood.v122.21.626.626.
Texto completoBarber, Kerry E., Christine J. Harrison, Zoe J. Broadfield, Adam R. M. Stewart, Sarah L. Wright, Mary Martineau, Jon C. Strefford y Anthony V. Moorman. "Molecular cytogenetic characterization ofTCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia". Genes, Chromosomes and Cancer 46, n.º 5 (2007): 478–86. http://dx.doi.org/10.1002/gcc.20431.
Texto completoWagner, John, Laurie A. Gordon, Henry H. Q. Heng, Michel L. Tremblay y Anne S. Olsen. "Physical Mapping of Receptor Type Protein Tyrosine Phosphatase Sigma (PTPRS) to Human Chromosome 19p13.3". Genomics 38, n.º 1 (noviembre de 1996): 76–78. http://dx.doi.org/10.1006/geno.1996.0594.
Texto completode Smith, Adam J., Mieke M. van Haelst, Richard J. Ellis, Susan E. Holder, Stewart J. Payne, Sugera K. Hashim, Philippe Froguel y Alexandra I. F. Blakemore. "Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems". American Journal of Medical Genetics Part A 155, n.º 5 (4 de abril de 2011): 1192–95. http://dx.doi.org/10.1002/ajmg.a.33986.
Texto completoAnwar, Sayeeda, Nusrat Kamal, Rokeya Khanom, Subrota Kumar Roy, Farzana Kabir y Ramkrishna Saha. "Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report". Journal of Bangladesh College of Physicians and Surgeons 37, n.º 3 (12 de junio de 2019): 160–64. http://dx.doi.org/10.3329/jbcps.v37i3.41739.
Texto completoIida, Aritoshi, Atsushi Takahashi, Min Deng, Yun Zhang, Jing Wang, Naoki Atsuta, Fumiaki Tanaka et al. "Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians". Neurobiology of Aging 32, n.º 4 (abril de 2011): 757.e13–757.e14. http://dx.doi.org/10.1016/j.neurobiolaging.2010.12.011.
Texto completoMcCurley, R. Skyler, Adrian Recinos, Anne S. Olsen, Jeffrey C. Gingrich, Dorota Szczepaniak, H. Scott Cameron, Ronald Krauss y Brent W. Weston. "Physical maps of human α(1,3)fucosyltransferase genes FUT3–FUT6 on chromosomes 19p13.3 and 11q21". Genomics 26, n.º 1 (marzo de 1995): 142–46. http://dx.doi.org/10.1016/0888-7543(95)80094-3.
Texto completoHeuckeroth, Robert O., Paul Kotzbauer, Neal G. Copeland, Debra J. Gilbert, Nancy A. Jenkins, D. B. Zimonjic, N. C. Popescu, Eugene M. Johnson y Jeffrey Milbrandt. "Neurturin, a Novel Neurotrophic Factor, Is Localized to Mouse Chromosome 17 and Human Chromosome 19p13.3". Genomics 44, n.º 1 (agosto de 1997): 137–40. http://dx.doi.org/10.1006/geno.1997.4846.
Texto completoAcierno, James S., John C. Kennedy, John L. Falardeau, Maire Leyne, Matthew C. Bromley, Matthew W. Colman, Mei Sun et al. "A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2". Genomics 73, n.º 2 (abril de 2001): 203–10. http://dx.doi.org/10.1006/geno.2001.6526.
Texto completoDutta, Usha R., Vijaya Kumar Pidugu y Ashwin Dalal. "Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea". Case Reports in Genetics 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/212065.
Texto completoPuttagunta, R. "Comparative Maps of Human 19p13.3 and Mouse Chromosome 10 Allow Identification of Sequences at Evolutionary Breakpoints". Genome Research 10, n.º 9 (1 de septiembre de 2000): 1369–80. http://dx.doi.org/10.1101/gr.145200.
Texto completoKoppers, Max, Ewout J. N. Groen, Paul W. J. van Vught, Wouter van Rheenen, Esther Witteveen, Michael A. van Es, R. Jeroen Pasterkamp, Leonard H. van den Berg y Jan H. Veldink. "Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3". Neurobiology of Aging 34, n.º 5 (mayo de 2013): 1518.e5–1518.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.018.
Texto completoValle, Véronique Della, Maryvonne le Coniat, Michel Soulard, Van Cong Nguyen, Roland Berger y Christian-Jacques Larsen. "Dual localization of the human gene encoding hnRNP I/PTB protein to chromosomes 19p13.3 and 14q23". Human Genetics 98, n.º 2 (2 de julio de 1996): 210–13. http://dx.doi.org/10.1007/s004390050193.
Texto completoWang, Z.-J., M. Churchman, I. G. Campbell, W.-H. Xu, Z.-Y. Yan, W. G. McCluggage, W. D. Foulkes y I. P. M. Tomlinson. "Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours". British Journal of Cancer 80, n.º 1-2 (26 de marzo de 1999): 70–72. http://dx.doi.org/10.1038/sj.bjc.6690323.
Texto completoHou, Wei, Jiaoyang Yin, Ulla Vogel, Zhenxiang Sun y Duohong Liang. "19p13.3 -GADD45B common variants and 19q13.3- PPP1R13L and 19q13.3- CD3EAP in lung cancer risk among Chinese". Chemico-Biological Interactions 277 (noviembre de 2017): 74–78. http://dx.doi.org/10.1016/j.cbi.2017.08.018.
Texto completoPeddibhotla, Sirisha, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance et al. "Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis". American Journal of Medical Genetics Part A 161, n.º 12 (2 de octubre de 2013): 2953–63. http://dx.doi.org/10.1002/ajmg.a.35886.
Texto completoKuroda, Yukiko, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno y Kenji Kurosawa. "Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features". American Journal of Medical Genetics Part A 167, n.º 2 (8 de diciembre de 2014): 389–93. http://dx.doi.org/10.1002/ajmg.a.36813.
Texto completoLyon, Sarah M., Darrel Waggoner, Sara Halbach, Erik C. Thorland, Leila Khorasani y Russell R. Reid. "Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2". Genes & Diseases 2, n.º 4 (diciembre de 2015): 347–52. http://dx.doi.org/10.1016/j.gendis.2015.09.001.
Texto completoKlimkowski, Sergio, Mohamed Ibrahim, Juan J. Ibarra Rovira, Mohamed Elshikh, Sanaz Javadi, Albert R. Klekers, Abdelraham A. Abusaif, Ahmed W. Moawad, Kamran Ali y Khaled M. Elsayes. "Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers". Cancers 13, n.º 20 (13 de octubre de 2021): 5121. http://dx.doi.org/10.3390/cancers13205121.
Texto completoNovikova, Irina, Paushpala Sen, Ann Manzardo y Merlin Butler. "Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review". Journal of Pediatric Genetics 06, n.º 04 (2 de junio de 2017): 227–33. http://dx.doi.org/10.1055/s-0037-1603650.
Texto completoChan, Kelvin Y. K., Johannes C. Y. Ching, M. S. Xu, Annie N. Y. Cheung, Shea-Ping Yip, Loretta Y. C. Yam, Sik-To Lai et al. "Association of ICAM3 Genetic Variant with Severe Acute Respiratory Syndrome". Journal of Infectious Diseases 196, n.º 2 (15 de julio de 2007): 271–80. http://dx.doi.org/10.1086/518892.
Texto completoNakagawa, Hidewaki, Kumiko Koyama, Toshihiro Tanaka, Yasuo Miyoshi, Hiroshi Ando, Shozo Baba, Masahiro Watatani, Masayuki Yasutomi, Morito Monden y Yusuke Nakamura. "Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3". Human Genetics 102, n.º 2 (23 de febrero de 1998): 203–6. http://dx.doi.org/10.1007/s004390050678.
Texto completoTenorio, Jair, Julián Nevado, Antonio González‐Meneses, Pedro Arias, Irene Dapía, Carlos A. Venegas‐Vega, María Calvente et al. "Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor". Clinical Genetics 97, n.º 3 (23 de enero de 2020): 467–76. http://dx.doi.org/10.1111/cge.13689.
Texto completovan Es, Michael A., Jan H. Veldink, Christiaan G. J. Saris, Hylke M. Blauw, Paul W. J. van Vught, Anna Birve, Robin Lemmens et al. "Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis". Nature Genetics 41, n.º 10 (6 de septiembre de 2009): 1083–87. http://dx.doi.org/10.1038/ng.442.
Texto completoKelner, Michael J. y Mark A. Montoya. "Structural Organization of the Human Selenium-Dependent Phospholipid Hydroperoxide Glutathione Peroxidase Gene (GPX4): Chromosomal Localization to 19p13.3". Biochemical and Biophysical Research Communications 249, n.º 1 (agosto de 1998): 53–55. http://dx.doi.org/10.1006/bbrc.1998.9086.
Texto completoRing, Huijun Z., Vida Vameghi-Meyers, Julia M. Nikolic, Hosung Min, Douglas L. Black y Uta Francke. "Mapping of theKHSRPGene to a Region of Conserved Synteny on Human Chromosome 19p13.3 and Mouse Chromosome 17". Genomics 56, n.º 3 (marzo de 1999): 350–52. http://dx.doi.org/10.1006/geno.1998.5725.
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