Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Disease and TBX1[original query] |
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| Analysis of TBX1 variation in patients with psychotic and affective disorders. Molecular medicine (Cambridge, Mass.) 0 13 (7-8): 407-14. Funke Birgit H, Lencz Todd, Finn Christine T, DeRosse Pamela, Poznik G David, Plocik Alex M, Kane John, Rogus John, Malhotra Anil K, Kucherlapati Ra |
| TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy. The Turkish journal of pediatrics 0 49 (1): 61-8. Cabuk Feryal, Karabulut Halil G, Tuncali Timur, Karademir Selmin, Bozdayi Mithat, Tükün Ajl |
| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
| Genetic analysis of the TBX1 gene promoter in ventricular septal defects. Molecular and cellular biochemistry 2012 Nov 370 (1-2): 53-8. Wang Haihua, Chen Dongfeng, Ma Liming, Meng Haihong, Liu Yumei, Xie Wen, Pang Shuchao, Yan |
| Human gene copy number spectra analysis in congenital heart malformations. Physiological genomics 2012 Feb . Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME |
| Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. Medicina oral, patología oral y cirugía bucal 2013 May 18 (3): e414-20. Paranaíba Lívia-Máris-Ribeiro, de Aquino Sibele-Nascimento, Bufalino Andreia, Martelli-Júnior Hercílio, Graner Edgard, Brito Luciano-Abreu, e Passos-Bueno Maria-Rita dos Santos, Coletta Ricardo-D, Swerts Mário-Sérgio-Olivei |
| Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia. Gene 2013 Nov . Zhang Y, Han Q, Li C, Li W, Fan H, Xing Q, Yan B |
| Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E469-73. Lambert Anne-Sophie, Grybek Virginie, Francou Bruno, Esterle Laure, Bertrand Guylène, Bouligand Jérôme, Guiochon-Mantel Anne, Hieronimus Sylvie, Voitel Dorit, Soskin Sylvie, Magdelaine Corinne, Lienhardt Anne, Silve Caroline, Linglart Agn |
| Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. Journal of human genetics 2015 Oct . Yoshida Akiko, Morisaki Hiroko, Nakaji Mai, Kitano Masataka, Kim Ki-Sung, Sagawa Koichi, Ishikawa Shiro, Satokata Ichiro, Mitani Yoshihide, Kato Hitoshi, Hamaoka Kenji, Echigo Shigeyuki, Shiraishi Isao, Morisaki Takayu |
| TBX1 loss-of-function mutation contributes to congenital conotruncal defects. Experimental and therapeutic medicine 2017 12 15 (1): 447-453. Zhang Min, Li Fu-Xing, Liu Xing-Yuan, Hou Jing-Yi, Ni Shi-Hong, Wang Juan, Zhao Cui-Mei, Zhang Wei, Kong Ye, Huang Ri-Tai, Xue Song, Yang Yi-Qi |
| A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication. Journal of translational medicine 2018 9 16 (1): 260. Hong Nanchao, Zhang Erge, Wang Qingjie, Zhang Xiaoqing, Li Fen, Fu Qihua, Xu Rang, Yu Yu, Chen Sun, Xu Yuejuan, Sun K |
| Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects. Genes 2018 Sep 9 (9): . Delea Marisol, Espeche Lucía D, Bruque Carlos D, Bidondo María Paz, Massara Lucía S, Oliveri Jaen, Brun Paloma, Cosentino Viviana R, Martinoli Celeste, Tolaba Norma, Picon Claudina, Ponce Zaldua María Eugenia, Ávila Silvia, Gutnisky Viviana, Perez Myriam, Furforo Lilian, Buzzalino Noemí D, Liascovich Rosa, Groisman Boris, Rittler Mónica, Rozental Sandra, Barbero Pablo, Dain Lilia |
| Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. Prenatal diagnosis 2018 Jul . Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe |
| Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation research 2019 Feb 124 (4): 553-563. Page Donna J, Miossec Matthieu J, Williams Simon G, Monaghan Richard M, Fotiou Elisavet, Cordell Heather J, Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L, Winlaw David S, Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J David, Setchfield Kerry J, Bu'Lock Frances A, O'Sullivan John, Stuart Graham, Bezzina Connie R, Mulder Barbara J M, Postma Alex V, Bentham James R, Baron Martin, Bhaskar Sanjeev S, Black Graeme C, Newman William G, Hentges Kathryn E, Lathrop G Mark, Santibanez-Koref Mauro, Keavney Bernard |
| Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease. Pediatric cardiology 2018 Jan . Pulignani Silvia, Vecoli Cecilia, Borghini Andrea, Foffa Ilenia, Ait-Alì Lamia, Andreassi Maria Graz |
| Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population. DNA and cell biology 2019 Apr . Wang Enshi, Nie Yu, Fan Xuesong, Zheng Zhe, Hu Shengsh |
| CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 2 26 (6): 642-650. Wang Yabing, Wang Ou, Nie Min, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
| Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects. Circulation. Genomic and precision medicine 2022 Oct 101161CIRCGEN121003510. Saacks Nicole A, Eales James, Spracklen Timothy F, Aldersley Thomas, Human Paul, Verryn Mark, Lawrenson John, Cupido Blanche, Comitis George, De Decker Rik, Fourie Barend, Swanson Lenise, Joachim Alexia, Brooks Andre, Ramesar Raj, Shaboodien Gasnat, Keavney Bernard D, Zühlke Liesl |
| Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association 2023 2 12 (4): e028226. Chui Martin M C, Mak Christopher C Y, Yu Mullin H C, Wong Sandra Y Y, Lun Kin-Shing, Yung Tak-Cheung, Kwong Anna K Y, Chow Pak-Cheong, Chung Brian H |
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