Artykuły w czasopismach na temat „19p13.3”
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Swan, L., i 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.
Pełny tekst źródłaIshikawa, Aki, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno i Kenji Kurosawa. "Pure duplication of 19p13.3". American Journal of Medical Genetics Part A 161, nr 9 (29.07.2013): 2300–2304. http://dx.doi.org/10.1002/ajmg.a.36041.
Pełny tekst źródłaSgardioli, Ilária C., Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira i Vera L. Gil-da-Silva-Lopes. "A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3". Cytogenetic and Genome Research 156, nr 2 (2018): 80–86. http://dx.doi.org/10.1159/000493283.
Pełny tekst źródłaRisheg, Hiba, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg i in. "Clinical Comparison of Overlapping Deletions of 19p13.3". American Journal of Medical Genetics Part A 161, nr 5 (22.04.2013): 1110–16. http://dx.doi.org/10.1002/ajmg.a.35923.
Pełny tekst źródłaSingh, Vertika, Renu Bala, Arijit Chakraborty, Singh Rajender, Sameer Trivedi i Kiran Singh. "Duplications in 19p13.3 are associated with male infertility". Journal of Assisted Reproduction and Genetics 36, nr 10 (16.08.2019): 2171–79. http://dx.doi.org/10.1007/s10815-019-01547-1.
Pełny tekst źródłaAso, Teijiro, Peter Tsai, Tatsuo Kawaguchi, Joan C. Menninger, Shigetaka Kitajima, Yukio Yasukochi, David C. Ward i Sherman M. Weissman. "Assignment of the Human GTF2F1 Gene to Chromosome 19p13.3". Genomics 16, nr 1 (kwiecień 1993): 252–53. http://dx.doi.org/10.1006/geno.1993.1168.
Pełny tekst źródłaAl-Othman, Abdallah Ahmad, Mir Sadat-Ali, Ahmed Sh Amer i Dakheel A. Al-Dakheel. "Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls". Asian Spine Journal 11, nr 2 (30.04.2017): 167–73. http://dx.doi.org/10.4184/asj.2017.11.2.167.
Pełny tekst źródłaLiaquat, S., R. Riley, G. Massey i W. T. Gunning. "Unique case of 19p13 syndrome with storage pool disease". American Journal of Clinical Pathology 156, Supplement_1 (1.10.2021): S104. http://dx.doi.org/10.1093/ajcp/aqab191.221.
Pełny tekst źródłaDi Blasi, Claudia, Behzad Moghadaszadeh, Claudia Ciano, Tiziana Negri, Alessio Giavazzi, Ferdinando Cornelio, Lucia Morandi i Marina Mora. "Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy". Annals of Neurology 56, nr 1 (2004): 133–38. http://dx.doi.org/10.1002/ana.20158.
Pełny tekst źródłaCapela de Matos, Roberto R., Daniela R. Ney Garcia, Moneeb A. K. Othman, Gerson Moura Ferreira, Joana B. Melo, Isabel M. Carreira, Claus Meyer i in. "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, nr 4 (2019): 213–19. http://dx.doi.org/10.1159/000499640.
Pełny tekst źródłaSiggberg, L., P. Olsén, K. Näntö-Salonen i S. Knuutila. "19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development". Cytogenetic and Genome Research 132, nr 1-2 (2011): 8–15. http://dx.doi.org/10.1159/000320920.
Pełny tekst źródłaAcierno Jr., James S., Jenna K. Shagoury, Yøusef Bo-Abbas, William F. Crowley Jr. i Stephanie B. Seminara. "A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3". Journal of Clinical Endocrinology & Metabolism 88, nr 6 (czerwiec 2003): 2947–50. http://dx.doi.org/10.1210/jc.2003-030423.
Pełny tekst źródłaKaname, T., T. Miyauchi, A. Kuwano, Y. Matsuda, T. Muramatsu i T. Kajii. "Mapping basigin (BSG), a member of the immunoglobulin superfamily, to 19p13.3". Cytogenetic and Genome Research 64, nr 3-4 (1993): 195–97. http://dx.doi.org/10.1159/000133573.
Pełny tekst źródłaJedlicka, A. E., E. W. Taylor, D. A. Meyers, Z. Liu i R. C. Levitt. "Localization of the highly polymorphic locus D19S120 to 19p13.3 by linkage". Cytogenetic and Genome Research 65, nr 1-2 (1994): 140. http://dx.doi.org/10.1159/000133621.
Pełny tekst źródłaDescartes, Maria, Fady M. Mikhail, Judith C. Franklin, Tony M. McGrath i Martina Bebin. "Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia". Pediatric Neurology 45, nr 4 (październik 2011): 274–78. http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.002.
Pełny tekst źródłaChan, Vivian, Gardian C. Y. Fong, Keith D. K. Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D. S. Lu i Tai-Kwong Chan. "A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3". American Journal of Human Genetics 71, nr 2 (sierpień 2002): 401–6. http://dx.doi.org/10.1086/341607.
Pełny tekst źródłaYu, Guo-Yun, Michael J. Howell, Matthew J. Roller, Ting-Dong Xie i Christopher M. Gomez. "Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6". Annals of Neurology 57, nr 3 (2005): 349–54. http://dx.doi.org/10.1002/ana.20371.
Pełny tekst źródłaArcher, H. L., S. Gupta, S. Enoch, P. Thompson, A. Rowbottom, I. Chua, S. Warren i in. "Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter". American Journal of Medical Genetics Part A 136A, nr 1 (2005): 38–44. http://dx.doi.org/10.1002/ajmg.a.30774.
Pełny tekst źródłaFaivre, Laurence, André Mégarbané, Abdulrahman Alswaid, Louise Zylberberg, Noura Aldohayan, Ana Campos-Xavier, Delphine Bacq i in. "Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2". Human Genetics 110, nr 4 (13.03.2002): 366–70. http://dx.doi.org/10.1007/s00439-002-0689-3.
Pełny tekst źródłaAin, Quratul, Sabiha Nazli, Saima Riazuddin, Ateeq-ul Jaleel, S. Amer Riazuddin, Ahmad U. Zafar, Shaheen N. Khan i in. "The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3". Human Genetics 122, nr 5 (10.08.2007): 445–50. http://dx.doi.org/10.1007/s00439-007-0418-z.
Pełny tekst źródłaMatsufuji, Senya, Johji Inazawa, Takaaki Hayashi, Youichi Miyazaki, Tamotsu Ichiba, Akihiro Furusaka, Tamiko Matsufuji i in. "Assignment of the Human Antizyme Gene (OAZ) to Chromosome 19p13.3 by Fluorescencein SituHybridization". Genomics 38, nr 1 (listopad 1996): 102–4. http://dx.doi.org/10.1006/geno.1996.0601.
Pełny tekst źródłaPuvabanditsin, Surasak, Eugene Garrow, Erik Brandsma, Jayshree Savla, Bgee Kunjumon i 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, nr 8 (16.07.2009): 1782–85. http://dx.doi.org/10.1002/ajmg.a.32972.
Pełny tekst źródłaOlschwang, S., D. Markie, S. Seal, K. Neale, R. Phillips, S. Cottrell, I. Ellis i in. "Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3." Journal of Medical Genetics 35, nr 1 (1.01.1998): 42–44. http://dx.doi.org/10.1136/jmg.35.1.42.
Pełny tekst źródłaNevado, Julián, Jill A. Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, María Ángeles Mori, Jair A. Tenorio i in. "PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome". European Journal of Human Genetics 23, nr 12 (8.04.2015): 1615–26. http://dx.doi.org/10.1038/ejhg.2015.51.
Pełny tekst źródłaCozen, Wendy, Dalin Li, Maria Timofeeva, Arjan Diepstra, Dennis Hazelett, Manon Delahaye-Sourdeix, Christopher K. Edlund i in. "A Meta-Analysis Of Hodgkin Lymphoma Reveals 19p13.3 (TCF3) As a Novel Susceptibility Loc". Blood 122, nr 21 (15.11.2013): 626. http://dx.doi.org/10.1182/blood.v122.21.626.626.
Pełny tekst źródłaBarber, Kerry E., Christine J. Harrison, Zoe J. Broadfield, Adam R. M. Stewart, Sarah L. Wright, Mary Martineau, Jon C. Strefford i Anthony V. Moorman. "Molecular cytogenetic characterization ofTCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia". Genes, Chromosomes and Cancer 46, nr 5 (2007): 478–86. http://dx.doi.org/10.1002/gcc.20431.
Pełny tekst źródłaWagner, John, Laurie A. Gordon, Henry H. Q. Heng, Michel L. Tremblay i Anne S. Olsen. "Physical Mapping of Receptor Type Protein Tyrosine Phosphatase Sigma (PTPRS) to Human Chromosome 19p13.3". Genomics 38, nr 1 (listopad 1996): 76–78. http://dx.doi.org/10.1006/geno.1996.0594.
Pełny tekst źródłade Smith, Adam J., Mieke M. van Haelst, Richard J. Ellis, Susan E. Holder, Stewart J. Payne, Sugera K. Hashim, Philippe Froguel i 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, nr 5 (4.04.2011): 1192–95. http://dx.doi.org/10.1002/ajmg.a.33986.
Pełny tekst źródłaAnwar, Sayeeda, Nusrat Kamal, Rokeya Khanom, Subrota Kumar Roy, Farzana Kabir i Ramkrishna Saha. "Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report". Journal of Bangladesh College of Physicians and Surgeons 37, nr 3 (12.06.2019): 160–64. http://dx.doi.org/10.3329/jbcps.v37i3.41739.
Pełny tekst źródłaIida, Aritoshi, Atsushi Takahashi, Min Deng, Yun Zhang, Jing Wang, Naoki Atsuta, Fumiaki Tanaka i in. "Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians". Neurobiology of Aging 32, nr 4 (kwiecień 2011): 757.e13–757.e14. http://dx.doi.org/10.1016/j.neurobiolaging.2010.12.011.
Pełny tekst źródłaMcCurley, R. Skyler, Adrian Recinos, Anne S. Olsen, Jeffrey C. Gingrich, Dorota Szczepaniak, H. Scott Cameron, Ronald Krauss i Brent W. Weston. "Physical maps of human α(1,3)fucosyltransferase genes FUT3–FUT6 on chromosomes 19p13.3 and 11q21". Genomics 26, nr 1 (marzec 1995): 142–46. http://dx.doi.org/10.1016/0888-7543(95)80094-3.
Pełny tekst źródłaHeuckeroth, Robert O., Paul Kotzbauer, Neal G. Copeland, Debra J. Gilbert, Nancy A. Jenkins, D. B. Zimonjic, N. C. Popescu, Eugene M. Johnson i Jeffrey Milbrandt. "Neurturin, a Novel Neurotrophic Factor, Is Localized to Mouse Chromosome 17 and Human Chromosome 19p13.3". Genomics 44, nr 1 (sierpień 1997): 137–40. http://dx.doi.org/10.1006/geno.1997.4846.
Pełny tekst źródłaAcierno, James S., John C. Kennedy, John L. Falardeau, Maire Leyne, Matthew C. Bromley, Matthew W. Colman, Mei Sun i in. "A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2". Genomics 73, nr 2 (kwiecień 2001): 203–10. http://dx.doi.org/10.1006/geno.2001.6526.
Pełny tekst źródłaDutta, Usha R., Vijaya Kumar Pidugu i 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.
Pełny tekst źródłaPuttagunta, R. "Comparative Maps of Human 19p13.3 and Mouse Chromosome 10 Allow Identification of Sequences at Evolutionary Breakpoints". Genome Research 10, nr 9 (1.09.2000): 1369–80. http://dx.doi.org/10.1101/gr.145200.
Pełny tekst źródłaKoppers, 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 i 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, nr 5 (maj 2013): 1518.e5–1518.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.018.
Pełny tekst źródłaValle, Véronique Della, Maryvonne le Coniat, Michel Soulard, Van Cong Nguyen, Roland Berger i Christian-Jacques Larsen. "Dual localization of the human gene encoding hnRNP I/PTB protein to chromosomes 19p13.3 and 14q23". Human Genetics 98, nr 2 (2.07.1996): 210–13. http://dx.doi.org/10.1007/s004390050193.
Pełny tekst źródłaWang, Z.-J., M. Churchman, I. G. Campbell, W.-H. Xu, Z.-Y. Yan, W. G. McCluggage, W. D. Foulkes i 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, nr 1-2 (26.03.1999): 70–72. http://dx.doi.org/10.1038/sj.bjc.6690323.
Pełny tekst źródłaHou, Wei, Jiaoyang Yin, Ulla Vogel, Zhenxiang Sun i 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 (listopad 2017): 74–78. http://dx.doi.org/10.1016/j.cbi.2017.08.018.
Pełny tekst źródłaPeddibhotla, Sirisha, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance i in. "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, nr 12 (2.10.2013): 2953–63. http://dx.doi.org/10.1002/ajmg.a.35886.
Pełny tekst źródłaKuroda, Yukiko, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno i 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, nr 2 (8.12.2014): 389–93. http://dx.doi.org/10.1002/ajmg.a.36813.
Pełny tekst źródłaLyon, Sarah M., Darrel Waggoner, Sara Halbach, Erik C. Thorland, Leila Khorasani i Russell R. Reid. "Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2". Genes & Diseases 2, nr 4 (grudzień 2015): 347–52. http://dx.doi.org/10.1016/j.gendis.2015.09.001.
Pełny tekst źródłaKlimkowski, Sergio, Mohamed Ibrahim, Juan J. Ibarra Rovira, Mohamed Elshikh, Sanaz Javadi, Albert R. Klekers, Abdelraham A. Abusaif, Ahmed W. Moawad, Kamran Ali i Khaled M. Elsayes. "Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers". Cancers 13, nr 20 (13.10.2021): 5121. http://dx.doi.org/10.3390/cancers13205121.
Pełny tekst źródłaNovikova, Irina, Paushpala Sen, Ann Manzardo i 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, nr 04 (2.06.2017): 227–33. http://dx.doi.org/10.1055/s-0037-1603650.
Pełny tekst źródłaChan, Kelvin Y. K., Johannes C. Y. Ching, M. S. Xu, Annie N. Y. Cheung, Shea-Ping Yip, Loretta Y. C. Yam, Sik-To Lai i in. "Association of ICAM3 Genetic Variant with Severe Acute Respiratory Syndrome". Journal of Infectious Diseases 196, nr 2 (15.07.2007): 271–80. http://dx.doi.org/10.1086/518892.
Pełny tekst źródłaNakagawa, Hidewaki, Kumiko Koyama, Toshihiro Tanaka, Yasuo Miyoshi, Hiroshi Ando, Shozo Baba, Masahiro Watatani, Masayuki Yasutomi, Morito Monden i Yusuke Nakamura. "Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3". Human Genetics 102, nr 2 (23.02.1998): 203–6. http://dx.doi.org/10.1007/s004390050678.
Pełny tekst źródłaTenorio, Jair, Julián Nevado, Antonio González‐Meneses, Pedro Arias, Irene Dapía, Carlos A. Venegas‐Vega, María Calvente i in. "Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor". Clinical Genetics 97, nr 3 (23.01.2020): 467–76. http://dx.doi.org/10.1111/cge.13689.
Pełny tekst źródłavan Es, Michael A., Jan H. Veldink, Christiaan G. J. Saris, Hylke M. Blauw, Paul W. J. van Vught, Anna Birve, Robin Lemmens i in. "Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis". Nature Genetics 41, nr 10 (6.09.2009): 1083–87. http://dx.doi.org/10.1038/ng.442.
Pełny tekst źródłaKelner, Michael J., i 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, nr 1 (sierpień 1998): 53–55. http://dx.doi.org/10.1006/bbrc.1998.9086.
Pełny tekst źródłaRing, Huijun Z., Vida Vameghi-Meyers, Julia M. Nikolic, Hosung Min, Douglas L. Black i Uta Francke. "Mapping of theKHSRPGene to a Region of Conserved Synteny on Human Chromosome 19p13.3 and Mouse Chromosome 17". Genomics 56, nr 3 (marzec 1999): 350–52. http://dx.doi.org/10.1006/geno.1998.5725.
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