Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
Query Trace: TBP[original query] |
---|
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a journal of neurology 2014 Sep 137 (Pt 9): 2444-55. Tezenas du Montcel Sophie, Durr Alexandra, Bauer Peter, Figueroa Karla P, Ichikawa Yaeko, Brussino Alessandro, Forlani Sylvie, Rakowicz Maria, Schöls Ludger, Mariotti Caterina, van de Warrenburg Bart P C, Orsi Laura, Giunti Paola, Filla Alessandro, Szymanski Sandra, Klockgether Thomas, Berciano José, Pandolfo Massimo, Boesch Sylvia, Melegh Bela, Timmann Dagmar, Mandich Paola, Camuzat Agnès, , , Goto Jun, Ashizawa Tetsuo, Cazeneuve Cécile, Tsuji Shoji, Pulst Stefan-M, Brusco Alfredo, Riess Olaf, Brice Alexis, Stevanin Giovan |
Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiology of aging 2014 Jul 35 (7): 1779.e17-21. Yamashita Chikara, Tomiyama Hiroyuki, Funayama Manabu, Inamizu Saeko, Ando Maya, Li Yuanzhe, Yoshino Hiroyo, Araki Takehisa, Ichikawa Tadashi, Ehara Yoshiro, Ishikawa Kinya, Mizusawa Hidehiro, Hattori Nobuta |
Temporal bone pneumatization in cystic fibrosis: a correlation with genotype? The Laryngoscope 2014 Jul 124 (7): 1682-6. Berkhout Maaike C, van Rooden Cornelis J, Aalbers Ralph C, el Bouazzaoui Lahssan H, Fokkens Wytske J, Rijntjes Evert, Heijerman Harry G |
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC neurology 2015 15 (1): 166. Choubtum Lulin, Witoonpanich Pirada, Hanchaiphiboolkul Suchat, Bhidayasiri Roongroj, Jitkritsadakul Onanong, Pongpakdee Sunsanee, Wetchaphanphesat Suppachok, Boonkongchuen Pairoj, Pulkes Teerato |
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
Frameshift mutations of TAF1C gene, a core component for transcription by RNA polymerase I, and its regional heterogeneity in gastric and colorectal cancers. Pathology 2015 Feb 47 (2): 101-4. Oh Hye Rim, An Chang Hyeok, Yoo Nam Jin, Lee Sug Hyu |
Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity. Pathology oncology research : POR 2016 Aug . Oh Hye Rim, An Chang Hyeok, Yoo Nam Jin, Lee Sug Hyu |
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. Human reproduction (Oxford, England) 2016 Jun . Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen J S, Mägi R, Kals M, Kivistik P A, Haller-Kikkatalo K, Salumets A, Kurg |
Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Translational psychiatry 2017 Jun 7 (6): e1143. Gardiner S L, van Belzen M J, Boogaard M W, van Roon-Mom W M C, Rozing M P, van Hemert A M, Smit J H, Beekman A T F, van Grootheest G, Schoevers R A, Oude Voshaar R C, Comijs H C, Penninx B W J H, van der Mast R C, Roos R A C, Aziz N |
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
Candidate SNP markers of aggressiveness-related complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. BMC genomics 2017 1 17 (Suppl 14): 995. Chadaeva Irina V, Ponomarenko Mikhail P, Rasskazov Dmitry A, Sharypova Ekaterina B, Kashina Elena V, Matveeva Marina Yu, Arshinova Tatjana V, Ponomarenko Petr M, Arkova Olga V, Bondar Natalia P, Savinkova Ludmila K, Kolchanov Nikolay |
Repeat length variations in polyglutamine disease-associated genes affect body mass index. International journal of obesity (2005) 2018 Aug . Gardiner Sarah L, de Mutsert Renée, Trompet Stella, Boogaard Merel W, van Dijk Ko Willems, Jukema P J Wouter, Slagboom P Eline, Roos Raymund A C, Pijl Hanno, Rosendaal Frits R, Aziz N Ahm |
Correlation study between ADA and IFN-? gene polymorphisms and the risk of developing tuberculous pericarditis. Gene 2018 Jul . Zhong Fangming, Dai Tao, Sheng |
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman |
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiology of aging 2018 Sep . Gardiner Sarah L, Harder Aster V E, Campman Yvonne J M, Trompet Stella, Gussekloo Jacobijn, van Belzen Martine J, Boogaard Merel W, Roos Raymund A C, Jansen Iris E, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje M, Aziz N Ahm |
Repeat variations in polyglutamine disease-associated genes and cognitive function in old age. Neurobiology of aging 2019 Aug . Gardiner Sarah L, Trompet Stella, Sabayan Behnam, Boogaard Merel W, Jukema J Wouter, Slagboom P Eline, Roos Raymund A C, van der Grond Jeroen, Aziz N Ahm |
Natural Variation in TBP-ASSOCIATED FACTOR 4b Controls Meiotic Crossover and Germline Transcription in Arabidopsis. Current biology : CB 2019 8 29 (16): 2676-2686.e3. Lawrence Emma J, Gao Hongbo, Tock Andrew J, Lambing Christophe, Blackwell Alexander R, Feng Xiaoqi, Henderson Ian |
[Study of associations of polymorphism of matrix metalloproteinases genes with the development of arterial hypertension in men]. Kardiologiia 2019 Aug 59 (7S): 31-39. Moskalenko M I, Milanova S N, Ponomarenko I V, Polonikov A V, Churnosov M |
Promoter Genotyping and mRNA Expression - Based Analysis of the PTGDR Gene in Allergy. Journal of investigational allergology & clinical immunology 2019 May 0. San Segundo-Val I, García-Sánchez A, Sanz C, Cornejo-García J A, Isidoro-García M, Dávila |
Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. JAMA neurology 2019 Apr . Gardiner Sarah L, Boogaard Merel W, Trompet Stella, de Mutsert Renée, Rosendaal Frits R, Gussekloo Jacobijn, Jukema J Wouter, Roos Raymund A C, Aziz N Ahm |
Identification of potential biomarkers related to glioma survival by gene expression profile analysis. BMC medical genomics 2019 Mar 11 (Suppl 7): 34. Hsu Justin Bo-Kai, Chang Tzu-Hao, Lee Gilbert Aaron, Lee Tzong-Yi, Chen Cheng- |
(CAG) loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. European journal of neurology 2019 Mar . Wang P, Chen Z, Peng Y, Cao L, Li X, Wang C, Yang H, Peng H, Shi Y, Zhou X, Li T, Feng L, Wu C, Qiu R, Xia K, Tang B, Jiang |
Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS. Amyotrophic lateral sclerosis & frontotemporal degeneration 2020 12 22 (5-6): 442-447. Jih Kang-Yang, Lin Kon-Ping, Tsai Pei-Chien, Soong Bing-Wen, Liao Yi-Chu, Lee Yi-Chu |
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 1 41 (6): 1475-1482. Mongelli Alessia, Magri Stefania, Salvatore Elena, Rizzo Elena, De Rosa Anna, Fico Tommasina, Gatti Marta, Gellera Cinzia, Taroni Franco, Mariotti Caterina, Nanetti Loren |
Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2021 9 46 (8): 793-799. Li Yu, Liu Zhen, Hou Xiaorong, Chen Zhao, Shen Lu, Xia Kun, Tang Beisha, Jiang Hong, Wang Junli |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 Jan . Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Heckman Michael G, Valentino Rebecca R, Milanowski Lukasz M, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Hassan Anhar, Uitti Ryan J, Cheshire William P, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Low Phillip A, Ross Owen |
The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility. Andrologia 2022 Sep e14581. Ambulkar Prafulla S, Waghmare Jwalant E, Verma Shivkumar Poonam, Chaudhari Ajay R, Gangane Nitin M, Narang Pratibha, Pal Asoke |
Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. Neuro-degenerative diseases 2022 Aug . Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Pet |
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 2023 2 . Nanetti Lorenzo, Magri Stefania, Fichera Mario, Castaldo Anna, Nigri Anna, Pinardi Chiara, Mongelli Alessia, Sarro Lidia, Pareyson Davide, Grisoli Marina, Gellera Cinzia, Di Bella Daniela, Mariotti Caterina, Taroni Fran |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 08, 2024
- Content source: