Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: TCOF1[original query] |
---|
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. European journal of human genetics : EJHG 2004 Nov 12 (11): 879-90. Teber Ozge Altug, Gillessen-Kaesbach Gabriele, Fischer Sven, Böhringer Stefan, Albrecht Beate, Albert Angelika, Arslan-Kirchner Mine, Haan Eric, Hagedorn-Greiwe Monika, Hammans Christof, Henn Wolfram, Hinkel Georg Klaus, König Rainer, Kunstmann Erdmute, Kunze Jürgen, Neumann Luitgard M, Prott Eva-Christina, Rauch Anita, Rott Hans-Dieter, Seidel Heide, Spranger Stephanie, Sprengel Martin, Zoll Barbara, Lohmann Dietmar R, Wieczorek Dagm |
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. American journal of medical genetics. Part A 2008 Sep 146A (18): 2327-31. Sull Jae Woong, Liang Kung-Yee, Hetmanski Jacqueline B, Fallin M Daniele, Ingersoll Roxanne G, Park Ji Wan, Wu-Chou Yah-Huei, Chen Philip K, Chong Samuel S, Cheah Felicia, Yeow Vincent, Park Beyoung Yun, Jee Sun Ha, Jabs Ethylin W, Redett Richard, Scott Alan F, Beaty Terri |
Association Between Genes Involved in Craniofacial Development and Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2015 Sep . Machado Renato Assis, Messetti Ana Camila, de Aquino Sibele Nascimento, Martelli-Júnior Hercílio, Swerts Mário Sérgio Oliveira, de Almeida Reis Silvia Regina, Moreira Helenara Salvati Bertolossi, Persuhn Darlene Camati, Coletta Ricardo |
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. Molecular genetics and genomics : MGG 2017 Dec . Chen Ying, Guo Luo, Li Chen-Long, Shan Jing, Xu Hai-Song, Li Jie-Ying, Sun Shan, Hao Shao-Juan, Jin Lei, Chai Gang, Zhang Tian- |
Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population. Clinical oral investigations 2020 Jul . Machado Renato Assis, de Oliveira Silva Carolina, Martelli-Junior Hercílio, das Neves Lucimara Teixeira, Coletta Ricardo |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
Exploration and validation of the prognostic value of RNA-binding proteins in hepatocellular carcinoma. European review for medical and pharmacological sciences 2022 12 26 (23): 8945-8958. Wang J, Han K, Li Y, Zhang C, Cui W-H, Zhu L-H, Luo T, Bian C |
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes. Life (Basel, Switzerland) 2022 11 12 (11): . Estandia-Ortega Bernardette, Reyna-Fabián Miriam Erandi, Velázquez-Aragón José Antonio, González-Del Angel Ariadna, Fernández-Hernández Liliana, Alcántara-Ortigoza Miguel Ang |
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome. Clinical dysmorphology 2023 8 . Nagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, Ahmed Habib, Engy A Ashaat, Wessam E Sharaf-Eldin, Mona L Essw |
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects. Molecular genetics & genomic medicine 2023 2 e2150. Wang Fang, Cheng Haiqin, Zhang Qin, Guo J |
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
PLoS genetics 2023 1 19 (1): e1010584. Hui Daniel, Mehrabi Shadi, Quimby Alexandra E, Chen Tingfang, Chen Sixing, Park Joseph, Li Binglan, , , Ruckenstein Michael J, Rader Daniel J, Ritchie Marylyn D, Brant Jason A, Epstein Douglas J, Mathieson Ia |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: