Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Disease and CHD7[original query] |
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| [Mutation analysis of the CHD7 gene in patients with congenital heart disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008 Dec 25 (6): 637-41. Qi Qiufeng, Yi Long, Yang Chi, Chen Huimei, Shen Li, Mo Xuming, Hu Yali, Wang Yapi |
| The cardiac phenotype in patients with a CHD7 mutation. Circulation. Cardiovascular genetics 2013 Jun 6 (3): 248-54. Corsten-Janssen Nicole, Kerstjens-Frederikse Wilhelmina S, du Marchie Sarvaas Gideon J, Baardman Maria E, Bakker Marian K, Bergman Jorieke E H, Hove Hanne D, Heimdal Ketil R, Rustad Cecilie F, Hennekam Raoul C M, Hofstra Robert M W, Hoefsloot Lies H, Van Ravenswaaij-Arts Conny M A, Kapusta Liv |
| Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PloS one 2014 9 (1): e85313. Winberg Johanna, Gustavsson Peter, Papadogiannakis Nikos, Sahlin Ellika, Bradley Frideborg, Nordenskjöld Edvard, Svensson Pär-Johan, Annerén Göran, Iwarsson Erik, Nordgren Ann, Nordenskjöld Agne |
| Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May . D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital See |
| Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov . Xu Cheng, Cassatella Daniele, van der Sloot Almer M, Quinton Richard, Hauschild Michael, De Geyter Christian, Flück Christa, Feller Katrin, Bartholdi Deborah, Nemeth Attila, Halperin Irene, Pekic Djurdjevic Sandra, Maeder Philippe, Papadakis Georgios, Dwyer Andrew A, Marino Laura, Favre Lucie, Pignatelli Duarte, Niederländer Nicolas J, Acierno James, Pitteloud Nel |
| Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular medicine reports 2019 Mar . Bu Haisong, Liu Lin, Hu Shijun, Tan Zhiping, Zhao Tian |
| LncRNAs join hands together to regulate neuroblastoma progression. Molecular & cellular oncology 2019 6 (1): 1553697. Mondal Tanmoy, Kanduri Chandrasekh |
| Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. The Journal of clinical endocrinology and metabolism 2019 11 105 (5): . Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meich |
| Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in medicine : official journal of the American College of Medical Genetics 2020 7 22 (11): 1759-1767. Acierno James S, Xu Cheng, Papadakis Georgios E, Niederländer Nicolas J, Rademaker Jesse D, Meylan Jenny, Messina Andrea, Kolesinska Zofia, Quinton Richard, Lang-Muritano Mariarosaria, Bartholdi Deborah, Halperin Irene, De Geyter Christian, Bouligand Jérôme, Bartoloni Lucia, Young Jacques, Santoni Federico A, Pitteloud Nel |
| Hydroa vacciniforme-like lymphoproliferative disorder: A study of clinicopathology and whole-exome sequencing in Chinese patients. Journal of dermatological science 2020 7 99 (2): 128-134. Xie Yao, Wang Tingting, Wang L |
| CHD7 missense variants and clinical characteristics of Chinese males with infertility. Molecular genetics & genomic medicine 2020 6 8 (9): e1372. Li Leilei, Wang Ruixue, Yu Yang, Zhang Hongguo, Jiang Yuting, Yang Xiao, Liu Ruiz |
| De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific reports 2020 Apr 10 (1): 7046. Ji Weizhen, Ferdman Dina, Copel Joshua, Scheinost Dustin, Shabanova Veronika, Brueckner Martina, Khokha Mustafa K, Ment Laura |
| Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma. Frontiers in oncology 2021 6 11 641869. Cao Jian, Yang Chun-He, Han Wei-Qing, Xie Yu, Liu Zhi-Zhong, Jiang Shu-Su |
| Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 3 121 (1 Pt 1): 218-226. Cho Chih-Yi, Tsai Wen-Yu, Lee Cheng-Ting, Liu Shih-Yao, Huang Shu-Yuan, Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung, Tung Yi-Chi |
| Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 2021 1 12 (1): . Haug Patricia, Koller Samuel, Maggi Jordi, Lang Elena, Feil Silke, Wlodarczyk Agnès, Bähr Luzy, Steindl Katharina, Rohrbach Marianne, Gerth-Kahlert Christina, Berger Wolfga |
| Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism. Frontiers in endocrinology 2022 13 846801. Wang Yi, Qin Miao, Fan Lijun, Gong Chunx |
| High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. American journal of medical genetics. Part A 2022 4 188 (7): 2082-2095. Munabi Naikhoba C O, Mikhail Shady, Toubat Omar, Webb Michelle, Auslander Allyn, Sanchez-Lara Pedro A, Manojlovic Zarko, Schmidt Ryan J, Craig David, Magee William P, Kumar Subramanyan R |
| De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome. ORL; journal for oto-rhino-laryngology and its related specialties 2022 1 84 (5): 417-424. Wang Shujuan, Lin Ying, Liang Pengfei, Li Qiong, Li Wei, Wang Zhaoxia, Wang Jian, Chen Jun, Zha Dingj |
| Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PloS one 2023 7 18 (7): e0287515. Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, Maria Concepción Alonso-Cerezo, Pilar Bahillo, Laura Bertholt, Isabel Esteva, Luis Castaño, Christa E Flü |
| Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot. Frontiers in cardiovascular medicine 2023 10 10 1249605. Drayton C Harvey, Riya Verma, Brandon Sedaghat, Brooke E Hjelm, Sarah U Morton, Jon G Seidman, S Ram Kum |
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