Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Syndrome and HD[original query] |
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| Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? Psychiatric genetics 2001 Dec 11 (4): 201-5. Savi? D, Topisirovi? I, Keckarevi? M, Keckarevi? D, Major T, Culjkovi? B, Stojkovi? O, Rakocevi?-Stojanovi? V, Mladenovi? J, Todorovi? S, Apostolski S, Romac |
| The synergistic effects of the IL-9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test. International journal of immunogenetics 2006 Apr 33 (2): 105-10. Wang T-N, Chen W-Y, Huang Y-F, Shih N-H, Feng W-W, Tseng H-I, Lee C-H, Ko Y |
| Malnutrition-inflammation syndrome in a hemodialysis population: the influence of polymorphic IL-6-174 and IL-10-1082 genes. Acta medica Indonesiana 0 38 (3): 145-9. Suhardjon |
| Association of heparanase gene (HPSE) single nucleotide polymorphisms with hematological malignancies. Leukemia 2007 Nov 21 (11): 2296-303. Ostrovsky O, Korostishevsky M, Levite I, Leiba M, Galski H, Vlodavsky I, Nagler |
| Screening for FXTAS in 95 Spanish patients negative for Huntington disease. Genetic testing 2008 Mar 12 (1): 135-8. Rodriguez-Revenga Laia, Santos M Mònica, Sánchez Aurora, Pujol Montserrat, Gómez-Anson Beatriz, Badenas Celia, Jiménez Dolores, Madrigal Irene, Milà Montserr |
| FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and brain functions : BBF 2011 7 (1): 19. Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isab |
| Killer immunoglobulin-like receptor locus polymorphisms in multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England) 2011 Dec . Jelcic I, Hsu KC, Kakalacheva K, Breiden P, Dupont B, Uhrberg M, Martin R, Münz C, Lünemann JD |
| Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia: the FRUIT-RCT. Journal of thrombosis and haemostasis : JTH 2011 Nov . de Vries JI, van Pampus MG, Hague WM, Bezemer PD, Joosten JH |
| Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV type 1 in Europeans and African-Americans. AIDS research and human retroviruses 2012 Dec 28 (12): 1565-73. Coon Sirena, Wang Danxin, Wu |
| Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis. Spine deformity 2014 (5): 324-332. Gao Xiaochong, Gotway Garrett, Rathjen Karl, Johnston Charles, Sparagana Steven, Wise Carol |
| C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome. Journal of neurology 2014 Oct 261 (10): 1917-21. Kosti? Vladimir S, Dobri?i? Valerija, Stankovi? Iva, Rali? Vesna, Stefanova El |
| Role of the transient receptor potential (TRP) channel gene expressions and TRP melastatin (TRPM) channel gene polymorphisms in obesity-related metabolic syndrome. European review for medical and pharmacological sciences 2015 Apr 19 (8): 1388-97. Tabur S, Oztuzcu S, Duzen I V, Eraydin A, Eroglu S, Ozkaya M, Demiryürek A |
| Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes. International journal of cancer. Journal international du cancer 2015 Dec . Villacis Rolando A R, Miranda Priscila M, Gomy Israel, Santos Erika M M, Carraro Dirce M, Achatz Maria I, Rossi Benedito M, Rogatto Silvia |
| Involvement of adropin and adropin-associated genes in metabolic abnormalities of hemodialysis patients. Life sciences 2016 Jul . Grzegorzewska Alicja E, Niepolski Leszek, Mostowska Adrianna, Warcho? Wojciech, Jagodzi?ski Pawe? |
| The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database. Human mutation 2016 Oct . Celli Jacopo, Rappold Gudrun, Niesler Bea |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Scientific reports 2016 6 19088. Soueid Jihane, Kourtian Silva, Makhoul Nadine J, Makoukji Joelle, Haddad Sariah, Ghanem Simona S, Kobeissy Firas, Boustany Rose-Ma |
| Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. American journal of medical genetics. Part A 2016 Jan . Watanabe Satoshi, Shimizu Kenji, Ohashi Hirofumi, Kosaki Rika, Okamoto Nobuhiko, Shimojima Keiko, Yamamoto Toshiyuki, Chinen Yasutsugu, Mizuno Seiji, Dowa Yuri, Shiomi Natsuko, Toda Yoshihiro, Tashiro Katsuya, Shichijo Koichi, Minatozaki Kazunori, Aso Seijiro, Minagawa Kyoko, Hiraki Yoko, Shimokawa Osamu, Matsumoto Tadashi, Fukuda Masafumi, Moriuchi Hiroyuki, Yoshiura Koh-Ichiro, Kondoh Tatsu |
| Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development. Journal of molecular medicine (Berlin, Germany) 2017 Jan . Villacis Rolando A R, Basso Tatiane R, Canto Luisa M, Pinheiro Maísa, Santiago Karina M, Giacomazzi Juliana, de Paula Cláudia A A, Carraro Dirce M, Ashton-Prolla Patrícia, Achatz Maria I, Rogatto Silvia |
| Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population. Genes & genomics 2018 May 40 (5): 465-473. Fernández Rosa, Guillamón Antonio, Gómez-Gil Esther, Esteva Isabel, Almaraz Mari Cruz, Cortés-Cortés Joselyn, Lamas Beatriz, Lema Estefanía, Pásaro Eduar |
| HLA DRB1*0415: a new possible genetic susceptibility factor for Hirata's disease. Endocrine 2019 11 67 (3): 729-732. Cambria Valeria, Beccuti Guglielmo, Gatti Filippo, Bona Chiara, Maccario Mauro, Gasco Valenti |
| SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping. Heart rhythm 2022 2 19 (6): 945-951. Pannone Luigi, Monaco Cinzia, Sorgente Antonio, Vergara Pasquale, Gauthey Anaïs, Calburean Paul-Adrian, Bisignani Antonio, Paparella Gaetano, Ramak Robbert, Overeinder Ingrid, Bala Gezim, Almorad Alexandre, Ströker Erwin, Pappaert Gudrun, Sieira Juan, Brugada Pedro, Van Dooren Sonia, de Ravel Thomy, La Meir Mark, Chierchia Gian Battista, de Asmundis Car |
| Associations of blood-based biomarkers of neurodegenerative diseases with mortality, cardio- and cerebrovascular events in persons with chronic coronary syndrome. Experimental gerontology 2025 1 200 112684. Valerie Lohner, Laura Perna, Ben Schöttker, Robert Perneczky, Hermann Brenner, Ute Mo |
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