Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: SIX3[original query] |
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[Genetic study of holoprosencephaly]. Annales de biologie clinique 2004 1 61 (6): 679-87. Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou M-R, Odent S, David |
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of medical genetics 2009 Jun 46 (6): 389-98. Lacbawan F, Solomon B D, Roessler E, El-Jaick K, Domené S, Vélez J I, Zhou N, Hadley D, Balog J Z, Long R, Fryer A, Smith W, Omar S, McLean S D, Clarkson K, Lichty A, Clegg N J, Delgado M R, Levey E, Stashinko E, Potocki L, Vanallen M I, Clayton-Smith J, Donnai D, Bianchi D W, Juliusson P B, Njølstad P R, Brunner H G, Carey J C, Hehr U, Müsebeck J, Wieacker P F, Postra A, Hennekam R C M, van den Boogaard M-J H, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel C T R M, Janecke A R, Chitayat D, Hahn J, McDonald-McGinn D M, Zackai E H, Dobyns W B, Muenke |
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Molecular vision 2009 15 . Zhang Xiaohui, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Shen Huangxuan, Guo Xiangming, Zhang Qingjio |
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human genetics 2010 1 127 (4): 421-40. Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa |
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Nature genetics 2011 Oct 43 (10): 990-5. Kim Young Jin, Go Min Jin, Hu Cheng, Hong Chang Bum, Kim Yun Kyoung, Lee Ji Young, Hwang Joo-Yeon, Oh Ji Hee, Kim Dong-Joon, Kim Nam Hee, Kim Soeui, Hong Eun Jung, Kim Ji-Hyun, Min Haesook, Kim Yeonjung, Zhang Rong, Jia Weiping, Okada Yukinori, Takahashi Atsushi, Kubo Michiaki, Tanaka Toshihiro, Kamatani Naoyuki, Matsuda Koichi, , Park Taesung, Oh Bermseok, Kimm Kuchan, Kang Daehee, Shin Chol, Cho Nam H, Kim Hyung-Lae, Han Bok-Ghee, Lee Jong-Young, Cho Yoon Sh |
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Journal of medical genetics 2012 Jul 49 (7): 7. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M |
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. PloS one 2015 10 (3): e0119443. Kim Ye-Ri, Kim Min-A, Sagong Borum, Bae Seung-Hyun, Lee Hyo-Jeong, Kim Hyung-Jong, Choi Jae Young, Lee Kyu-Yup, Kim Un-Kyu |
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA.
Scientific reports 2017 Nov 7 (1): 16147. Hachiya Tsuyoshi, Komaki Shohei, Hasegawa Yutaka, Ohmomo Hideki, Tanno Kozo, Hozawa Atsushi, Tamiya Gen, Yamamoto Masayuki, Ogasawara Kuniaki, Nakamura Motoyuki, Hitomi Jiro, Ishigaki Yasushi, Sasaki Makoto, Shimizu Atsus |
Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.
PLoS genetics 2018 04 14 (4): e1007275. Spracklen Cassandra N, Shi Jinxiu, Vadlamudi Swarooparani, Wu Ying, Zou Meng, Raulerson Chelsea K, Davis James P, Zeynalzadeh Monica, Jackson Kayla, Yuan Wentao, Wang Haifeng, Shou Weihua, Wang Ying, Luo Jingchun, Lange Leslie A, Lange Ethan M, Popkin Barry M, Gordon-Larsen Penny, Du Shufa, Huang Wei, Mohlke Karen |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Ophthalmic genetics 2018 Feb 1-9. Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay |
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Nature 2020 06 582 (7811): 240-245. Spracklen Cassandra N, Horikoshi Momoko, Kim Young Jin, Lin Kuang, Bragg Fiona, Moon Sanghoon, Suzuki Ken, Tam Claudia H T, Tabara Yasuharu, Kwak Soo-Heon, Takeuchi Fumihiko, Long Jirong, Lim Victor J Y, Chai Jin-Fang, Chen Chien-Hsiun, Nakatochi Masahiro, Yao Jie, Choi Hyeok Sun, Iyengar Apoorva K, Perrin Hannah J, Brotman Sarah M, van de Bunt Martijn, Gloyn Anna L, Below Jennifer E, Boehnke Michael, Bowden Donald W, Chambers John C, Mahajan Anubha, McCarthy Mark I, Ng Maggie C Y, Petty Lauren E, Zhang Weihua, Morris Andrew P, Adair Linda S, Akiyama Masato, Bian Zheng, Chan Juliana C N, Chang Li-Ching, Chee Miao-Li, Chen Yii-Der Ida, Chen Yuan-Tsong, Chen Zhengming, Chuang Lee-Ming, Du Shufa, Gordon-Larsen Penny, Gross Myron, Guo Xiuqing, Guo Yu, Han Sohee, Howard Annie-Green, Huang Wei, Hung Yi-Jen, Hwang Mi Yeong, Hwu Chii-Min, Ichihara Sahoko, Isono Masato, Jang Hye-Mi, Jiang Guozhi, Jonas Jost B, Kamatani Yoichiro, Katsuya Tomohiro, Kawaguchi Takahisa, Khor Chiea-Chuen, Kohara Katsuhiko, Lee Myung-Shik, Lee Nanette R, Li Liming, Liu Jianjun, Luk Andrea O, Lv Jun, Okada Yukinori, Pereira Mark A, Sabanayagam Charumathi, Shi Jinxiu, Shin Dong Mun, So Wing Yee, Takahashi Atsushi, Tomlinson Brian, Tsai Fuu-Jen, van Dam Rob M, Xiang Yong-Bing, Yamamoto Ken, Yamauchi Toshimasa, Yoon Kyungheon, Yu Canqing, Yuan Jian-Min, Zhang Liang, Zheng Wei, Igase Michiya, Cho Yoon Shin, Rotter Jerome I, Wang Ya-Xing, Sheu Wayne H H, Yokota Mitsuhiro, Wu Jer-Yuarn, Cheng Ching-Yu, Wong Tien-Yin, Shu Xiao-Ou, Kato Norihiro, Park Kyong-Soo, Tai E-Shyong, Matsuda Fumihiko, Koh Woon-Puay, Ma Ronald C W, Maeda Shiro, Millwood Iona Y, Lee Juyoung, Kadowaki Takashi, Walters Robin G, Kim Bong-Jo, Mohlke Karen L, Sim Xueli |
[Analysis of a child with holoprosencephaly due to variant of SIX3 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 7 38 (7): 656-658. Zeng Hong, Xiao Ziwen, Xu Yongzhe, Qian Wen, Pan Wei, Zhao Danqi |
Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes. PLoS genetics 2021 5 17 (5): e1009531. Aylward Anthony, Okino Mei-Lin, Benaglio Paola, Chiou Joshua, Beebe Elisha, Padilla Jose Andres, Diep Sharlene, Gaulton Kyle |
CRISPR-based genome editing in primary human pancreatic islet cells. Nature communications 2021 4 12 (1): 2397. Bevacqua Romina J, Dai Xiaoqing, Lam Jonathan Y, Gu Xueying, Friedlander Mollie S H, Tellez Krissie, Miguel-Escalada Irene, Bonàs-Guarch Silvia, Atla Goutham, Zhao Weichen, Kim Seung Hyun, Dominguez Antonia A, Qi Lei S, Ferrer Jorge, MacDonald Patrick E, Kim Seung |
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