Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Hypogonadism and CHD7[original query] |
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CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical genetics 2009 Jan 75 (1): 65-71. Jongmans M C J, van Ravenswaaij-Arts C M A, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten H L, van der Donk K, Seminara S, Bergman J E H, Brunner H G, Crowley W F, Hoefsloot L |
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 |
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 |
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 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- |
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 |
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 |
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease. Molecular and cellular endocrinology 2020 8 517 110968. Gach Agnieszka, Pinkier Iwona, Sa?aci?ska Kinga, Szarras-Czapnik Maria, Salachna Dominik, Kuci?ska Agata, Rybak-Krzyszkowska Magda, Sakowicz Aga |
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 |
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). Frontiers in endocrinology 2020 7 11 368. Budny Bartlomiej, Zemojtel Tomasz, Kaluzna Malgorzata, Gut Pawel, Niedziela Marek, Obara-Moszynska Monika, Rabska-Pietrzak Barbara, Karmelita-Katulska Katarzyna, Stajgis Marek, Ambroziak Urszula, Bednarczuk Tomasz, Wrotkowska Elzbieta, Bukowska-Olech Ewelina, Jamsheer Aleksander, Ruchala Marek, Ziemnicka Katarzy |
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 |
Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment. The journal of sexual medicine 2020 3 17 (4): 645-657. Chen Yinwei, Sun Taotao, Niu Yonghua, Wang Daoqi, Xiong Zhiyong, Li Chuanzhou, Liu Kang, Qiu Youlan, Sun Yi, Gong Jianan, Wang Tao, Wang Shaogang, Xu Hao, Liu Jiho |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
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 |
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 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 |
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 |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
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 |
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 |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics 2023 9 . Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffi |
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 2023 4 24 (8): . Rossella Cannarella, Carmelo Gusmano, Rosita A Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E Caloge |
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- Page last updated:Mar 25, 2024
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