HuGE Literature Finder
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| Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics. Frontiers in genetics 2022 1 12 770680. Sun Bang, Wang Xi, Mao Jiangfeng, Zhao Zhiyuan, Zhang Wei, Nie Min, Wu Xuey |
| 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 |
| 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 spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
| [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
| An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience bulletin 2021 5 37 (8): 1091-1106. Zhang Ran, He Hui, Yuan Bo, Wu Ziyan, Wang Xiuzhen, Du Yasong, Chen Yuejun, Qiu Zilo |
| 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 |
| Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Journal of reproduction & infertility 2021 3 22 (1): 38-46. Danda Vijay Sheker Reddy, Paidipelly Srinivas Rao, Verepula Madhavi, Lodha Piyush, Thaduri Krishna Reddy, Konda Chaitanya, Ruhi Aps |
| Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Life (Basel, Switzerland) 2020 Oct 10 (10): . Cannarella Rossella, Precone Vincenza, Guerri Giulia, Busetto Gian Maria, Di Renzo Gian Carlo, Gerli Sandro, Manara Elena, Dautaj Astrit, Bertelli Matteo, Calogero Aldo Eugen |
| A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
| CHARGE syndrome without colobomas: Ophthalmic findings. American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 611-617. Dosunmu Eniolami O, Castleberry Katherine |
| 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 |
| Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants. BMC medical genetics 2019 May 20 (1): 93. Chen Xiang, Yan Kai, Gao Yanyan, Wang Huijun, Chen Guoqiang, Wu Bingbing, Qin Qian, Yang Lin, Zhou Wenh |
| 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 |
| High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. Scientific reports 2019 2 9 (1): 1597. Gonçalves Catarina Inês, Patriarca Filipa Marina, Aragüés José Maria, Carvalho Davide, Fonseca Fernando, Martins Sofia, Marques Olinda, Pereira Bernardo Dias, Martinez-de-Oliveira José, Lemos Manuel Carl |
| 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 |
| Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G |
| ALS and CHARGE syndrome: a clinical and genetic study. Acta neurologica Belgica 2018 10 118 (4): 629-635. Ungaro Carmine, Citrigno Luigi, Trojsi Francesca, Sprovieri Teresa, Gentile Giulia, Muglia Maria, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Cavallaro Sebastiano, Conforti Francesca Lui |
| Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. AJNR. American journal of neuroradiology 2018 9 39 (10): 1938-1942. de Geus C M, Bergman J E H, van Ravenswaaij-Arts C M A, Meiners L |
| Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertility and sterility 2018 8 110 (3): 486-495.e5. Zhou Chengming, Niu Yonghua, Xu Hao, Li Zongzhe, Wang Tao, Yang Weimin, Wang Shaogang, Wang Dao Wen, Liu Jiho |
| Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018 9 127 (8): 538-544. Kim Ja Hye, Seo Go Hun, Kim Gu-Hwan, Huh Juyoung, Hwang Il Tae, Jang Ja-Hyun, Yoo Han-Wook, Choi Jin- |
| 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 |
| Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep . Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shin |
| Next-generation sequencing of patients with congenital anosmia. European journal of human genetics : EJHG 2017 12 25 (12): 1377-1387. Alkelai Anna, Olender Tsviya, Dode Catherine, Shushan Sagit, Tatarskyy Pavel, Furman-Haran Edna, Boyko Valery, Gross-Isseroff Ruth, Halvorsen Matthew, Greenbaum Lior, Milgrom Roni, Yamada Kazuya, Haneishi Ayumi, Blau Ilan, Lancet Dor |
| Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. International journal of cardiology. Heart & vasculature 2016 Sep 12 21-25. Corsten-Janssen Nicole, van Ravenswaaij-Arts Conny M A, Kapusta Liv |
| 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 |
| CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. American journal of medical genetics. Part A 2014 Dec 164A (12): 3003-9. Corsten-Janssen Nicole, du Marchie Sarvaas Gideon J, Kerstjens-Frederikse Wilhelmina S, Hoefsloot Lies H, van Beynum Ingrid M, Kapusta Livia, van Ravenswaaij-Arts Conny M |
| Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
| Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators. Gastroenterology 2014 Feb 146 (2): 530-38.e5. Tahara Tomomitsu, Yamamoto Eiichiro, Madireddi Priyanka, Suzuki Hiromu, Maruyama Reo, Chung Woonbok, Garriga Judith, Jelinek Jaroslav, Yamano Hiro-O, Sugai Tamotsu, Kondo Yutaka, Toyota Minoru, Issa Jean-Pierre J, Estécio Marcos R |
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- Page last updated:Mar 31, 2023
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