Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: Syndrome and TBX1[original query] |
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Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion. Annales de génétique 0 47 (3): 235-40. Voelckel Marie-Antoinette, Girardot Lydie, Giusiano Bernard, Levy Nicolas, Philip Nico |
An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population. Neuroscience letters 2007 Oct 425 (3): 146-50. Ma Gang, Shi YongYong, Tang Wei, He ZangDong, Huang Ke, Li ZhiQiang, He Guang, Feng GuoYin, Li HuaFang, He L |
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 |
Strong evidence that GNB1L is associated with schizophrenia. Human molecular genetics 2008 Feb 17 (4): 555-66. Williams Nigel M, Glaser Beate, Norton Nadine, Williams Hywel, Pierce Timothy, Moskvina Valentina, Monks Stephen, Del Favero Jurgen, Goossens Dirk, Rujescu Dan, Giegling Ina, Kirov George, Craddock Nicholas, Murphy Kieran C, O'Donovan Michael C, Owen Michael |
Supportive evidence for reduced expression of GNB1L in schizophrenia. Schizophrenia bulletin 2010 Jul 36 (4): 756-65. Ishiguro Hiroki, Koga Minori, Horiuchi Yasue, Noguchi Emiko, Morikawa Miyuki, Suzuki Yoshimi, Arai Makoto, Niizato Kazuhiro, Iritani Shyuji, Itokawa Masanari, Inada Toshiya, Iwata Nakao, Ozaki Norio, Ujike Hiroshi, Kunugi Hiroshi, Sasaki Tsukasa, Takahashi Makoto, Watanabe Yuichiro, Someya Toshiyuki, Kakita Akiyoshi, Takahashi Hitoshi, Nawa Hiroyuki, Arinami Tad |
Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. Birth defects research. Part A, Clinical and molecular teratology 2010 Jan 88 (1): 54-63. Heike Carrie L, Starr Jacqueline R, Rieder Mark J, Cunningham Michael L, Edwards Karen L, Stanaway Ian B, Crawford Dana |
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 |
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Human mutation 2011 Nov 32 (11): 1278-89. Guo Tingwei, McDonald-McGinn Donna, Blonska Anna, Shanske Alan, Bassett Anne S, Chow Eva, Bowser Mark, Sheridan Molly, Beemer Frits, Devriendt Koen, Swillen Ann, Breckpot Jeroen, Digilio Maria C, Marino Bruno, Dallapiccola Bruno, Carpenter Courtney, Zheng Xin, Johnson Jacob, Chung Jonathan, Higgins Anne Marie, Philip Nicole, Simon Tony J, Coleman Karlene, Heine-Suner Damian, Rosell Jordi, Kates Wendy, Devoto Marcella, Goldmuntz Elizabeth, Zackai Elaine, Wang Tao, Shprintzen Robert, Emanuel Beverly, Morrow Bernice, |
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. BMC medical genetics 2011 Dec 12 (1): 1. Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K |
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 |
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. International journal of pediatric otorhinolaryngology 2013 Jan 77 (1): 123-7. Widdershoven Josine C C, Bowser Mark, Sheridan Molly B, McDonald-McGinn Donna M, Zackai Elaine H, Solot Cynthia B, Kirschner Richard E, Beemer Frits A, Morrow Bernice E, Devoto Marcella, Emanuel Beverly |
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. American journal of medical genetics. Part A 2012 Oct . Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE |
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 |
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. BMC medical genetics 2014 15 78. Xu Yue-Juan, Chen Sun, Zhang Jian, Fang Shao-Hai, Guo Qian-Qian, Wang Jian, Fu Qi-Hua, Li Fen, Xu Rang, Sun K |
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 |
Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia. Genes 2016 Nov 7 (11): . Ping Lieh-Yung, Chuang Yang-An, Hsu Shih-Hsin, Tsai Hsin-Yao, Cheng Min-Ch |
A novel TBX1 missense mutation in patients with syndromic congenital heart defects. Biochemical and biophysical research communications 2018 3 499 (3): 563-569. Jaouadi Amel, Tabebi Mouna, Abdelhedi Fatma, Abid Dorra, Kamoun Fatma, Chabchoub Imen, Maatoug Sirine, Doukali Hajer, Belghuith Neila, Ksentini Mohamed Ali, Keskes Leila Ammar, Triki Chahnez, Hachicha Mongia, Kamoun Samir, Kamoun Hass |
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 |
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 8 34 (12): 2254-2263. Wang Yabing, Nie Min, Wang Ou, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
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 |
In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. PloS one 2024 6 19 (6): e0298092. Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Mar |
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes. Biomolecules 2024 5 14 (5): . Leo McKay, Berardino Petrelli, Molly Pind, James N Reynolds, Richard F Wintle, Albert E Chudley, Britt Drögemöller, Abraham Fainsod, Stephen W Scherer, Ana Hanlon-Dearman, Geoffrey G Hic |
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