Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: DYNC2H1[original query] |
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Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.
Cancer research 2010 Dec 70 (23): 9721-9. Wu Chen, Xu Binghe, Yuan Peng, Miao Xiaoping, Liu Yu, Guan Yin, Yu Dianke, Xu Jian, Zhang Tongwen, Shen Hongbing, Wu Tangchun, Lin Dongx |
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical genetics 2014 Dec . McInerney-Leo A M, Harris J E, Leo P J, Marshall M S, Gardiner B, Kinning E, Leong H Y, McKenzie F, Ong W P, Vodopiutz J, Wicking C, Brown M A, Zankl A, Duncan E |
Bivariate genome-wide association analyses identified genetic pleiotropic effects for bone mineral density and alcohol drinking in Caucasians.
Journal of bone and mineral metabolism 2016 Dec . Lu Shan, Zhao Lan-Juan, Chen Xiang-Ding, Papasian Christopher J, Wu Ke-Hao, Tan Li-Jun, Wang Zhuo-Er, Pei Yu-Fang, Tian Qing, Deng Hong-W |
Whole exome sequencing in recurrent early pregnancy loss. Molecular human reproduction 2016 Jan . Qiao Ying, Wen Jiadi, Tang Flamingo, Martell Sally, Shomer Naomi, Leung Peter C K, Stephenson Mary D, Rajcan-Separovic Evi |
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology 2019 Jun . Fujita Atsushi, Higashijima Takefumi, Shirozu Hiroshi, Masuda Hiroshi, Sonoda Masaki, Tohyama Jun, Kato Mitsuhiro, Nakashima Mitsuko, Tsurusaki Yoshinori, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Miyatake Satoko, Miyake Noriko, Fukuda Masafumi, Kameyama Shigeki, Saitsu Hirotomo, Matsumoto Naomic |
Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2019 10 40 (6): 874-876. He Yi, Li Yu-Juan, Xu Li-Li, Li Dong-Z |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human molecular genetics 2022 2 31 (14): 2307-2316. Green Timothy E, Motelow Joshua E, Bennett Mark F, Ye Zimeng, Bennett Caitlin A, Griffin Nicole G, Damiano John A, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Lockhart Paul J, Sadleir Lynette G, Boys Amber, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Bahlo Melanie, Goldstein David B, Kerrigan John F, Heinzen Erin L, Berkovic Samuel F, Hildebrand Michael |
Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus. BMC medical genomics 2024 4 17 (1): 115. Asma A Elashi, Salman M Toor, Umm-Kulthum Ismail Umlai, Yasser A Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra, Omar M E Albag |
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Padiatrie 2024 1 . Marc-Alexander Oestreich, Fabian Keller, Xenia Bovermann, Dominique Braun, Rike Schiller, Luigi Raio, Christiane Zweier, Carmen Casaulta, Jakob Usemann, André Kidszun, Mircea-Horia Popa-Todirenc |
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