Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 43 Records) |
Query Trace: GLI3[original query] |
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Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. Scientific reports 2016 Oct 6 35188. Grzegorzewska Alicja E, Paciorkowski Mateusz, Mostowska Adrianna, Frycz Bartosz, Warcho? Wojciech, Stolarek Ireneusz, Figlerowicz Marek, Jagodzi?ski Pawe? |
The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population. Journal of genetics 2017 Sep 96 (4): 687-693. Wang Yirui, Sun Yimin, Huang Yongqing, Pan Yongchu, Shi Bing, Ma Jian, Ma Lan, Lan Feifei, Zhou Yuxi, Shi Jiayu, Zhu Jinfang, Jiang Hongbing, Zhang Lei, Xiao Xue, Jiang Min, Yin Aihua, Yu Lili, Wang Lin, Cheng Jing, Yang Yinx |
Genome-wide association study of language performance in Alzheimer's disease.
Brain and language 2017 May . Deters Kacie D, Nho Kwangsik, Risacher Shannon L, Kim Sungeun, Ramanan Vijay K, Crane Paul K, Apostolova Liana G, Saykin Andrew J, |
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly. Developmental dynamics : an official publication of the American Association of Anatomists 2017 Jan . Xiang Ying, Jiang Limin, Wang Bo, Xu Yunlan, Cai Haiqing, Fu Qih |
Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly. Genetic testing and molecular biomarkers 2018 9 22 (9): 577-581. Rao Chunbao, Chen Jiahui, Peng Qi, Mo Qineng, Xia Xiansheng, Lu Xiaom |
Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate. Journal of clinical laboratory analysis 2018 3 32 (6): e22428. da Silva Heglayne Pereira Vital, Oliveira Gustavo Henrique de Medeiros, Ururahy Marcela Abbott Galvão, Bezerra João Felipe, de Souza Karla Simone Costa, Bortolin Raul Hernandes, Luchessi André Ducati, Silbiger Vivian Nogueira, Lima Valéria Morgiana Gualberto Duarte Moreira, Leite Gisele Correia Pacheco, Brito Maria Edinilma Felinto, Ribeiro Erlane Marques, Gil-da-Silva-Lopes Vera Lúcia, de Rezende Adriana Augus |
Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018 2 55 (3): 375-382. Gilbert James R, Taylor Gwen M, Losee Joseph E, Mooney Mark P, Cooper Gregory |
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly. Developmental dynamics : an official publication of the American Association of Anatomists 2019 7 248 (10): 942-947. Zhao Xiangyu, Xu Hongyan, Liu Xiaxia, Li L |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway. Human genetics 2019 May . Renard Emeline, Chéry Céline, Oussalah Abderrahim, Josse Thomas, Perrin Pascal, Tramoy Denise, Voirin Jimmy, Klein Olivier, Leheup Bruno, Feillet François, Guéant-Rodriguez Rosa-Maria, Guéant Jean-Lou |
Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans. Archives of oral biology 2019 May 103 12-18. Marañón-Vásquez Guido Artemio, Dantas Beatriz, Kirschneck Christian, Arid Juliana, Cunha Arthur, Ramos Alice Gomes de Carvalho, Omori Marjorie Ayumi, Rodrigues Amanda Silva, Teixeira Ellen Cardoso, Levy Simone Carvalho, Schroeder Agnes, Matsumoto Mírian Aiko Nakane, Proff Peter, Antunes Lívia Azeredo A, Vieira Alexandre R, Antunes Leonardo Santos, Küchler Erika Calva |
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. Cells 2019 2 8 (2): . Martinez Maria Florencia, Romano Maria Vanesa, Martinez Alfredo Pedro, González Abel, Muchnik Carolina, Stengel Fernando Miguel, Mazzuoccolo Luis Daniel, Azurmendi Pablo Javi |
Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours. Folia neuropathologica 2019 57 (3): 227-238. Kuleszo Dominika, Lipska-Zi?tkiewicz Beata, Koczkowska Magdalena, Zakrzewski Krzysztof, Grajkowska Wies?awa, Roszkowski Marcin, Dembowska-Bagi?ska Bo?enna, Czarnota Katarzyna, Adamkiewicz-Dro?y?ska El?bieta, I?ycka-?wieszewska E |
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing. BMC medical genomics 2019 1 12 (1): 28. Wang Pu, Wang Yibei, Fan Xinmiao, Liu Yaping, Fan Yue, Liu Tao, Chen Chongjian, Zhang Shuyang, Chen Xiaow |
Genetic variants in tooth agenesis-related genes might be also involved in tooth size variations. Clinical oral investigations 2020 Jul . Cunha Arthur S, Dos Santos Luiza Vertuan, Marañón-Vásquez Guido Artemio, Kirschneck Christian, Gerber Jennifer Tsi, Stuani Maria Bernadete, Matsumoto Mírian Aiko Nakane, Vieira Alexandre Rezende, Scariot Rafaela, Küchler Erika Calva |
The role of sonic hedgehog homologue signal pathway in hypospadias aetiology. Journal of pediatric urology 2021 Jun . Saraç Mehmet, Canpolat ?enay, Önalan Etem Ebru, Tektemur Ahmet, Tartar Tugay, Bakal Unal, Kazez Ahm |
Clonal Architectures Predict Clinical Outcome in Gastric Adenocarcinoma Based on Genomic Variation, Tumor Evolution, and Heterogeneity. Cell transplantation 0 30 963689721989606. Ren Chenxia, Wu Cuiling, Wang Niuniu, Lian Changhong, Yang Changqi |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
An intron variant of the GLI family zinc finger 3 (GLI3) gene differentiates resistance training-induced muscle fiber hypertrophy in younger men.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2021 4 35 (5): e21587. Vann Christopher G, Morton Robert W, Mobley Christopher B, Vechetti Ivan J, Ferguson Brian K, Haun Cody T, Osburn Shelby C, Sexton Casey L, Fox Carlton D, Romero Matthew A, Roberson Paul A, Oikawa Sara Y, McGlory Chris, Young Kaelin C, McCarthy John J, Phillips Stuart M, Roberts Michael |
ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics. Frontiers in pediatrics 2022 6 10 797978. Zeng Lei, Jin Jie-Yuan, Luo Fang-Mei, Sheng Yue, Wu Pan-Feng, Xiang Ro |
De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric neurology 2022 4 131 1-3. Siafa Lyna, Argilli Emanuela, Sherr Elliott H, Myers Kenneth |
Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study. Molecular vision 2021 27 757-767. Altay Lebriz, Liakopoulos Sandra, Berghold Aileen, Rosenberger Kerstin-Daniela, Ernst Angela, de Breuk Anita, den Hollander Anneke I, Fauser Sascha, Schick Ti |
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 |
Thirty novel sequence variants impacting human intracranial volume. Brain communications 2022 11 4 (6): fcac271. Nawaz Muhammad Sulaman, Einarsson Gudmundur, Bustamante Mariana, Gisladottir Rosa S, Walters G Bragi, Jonsdottir Gudrun A, Skuladottir Astros Th, Bjornsdottir Gyda, Magnusson Sigurdur H, Asbjornsdottir Bergrun, Unnsteinsdottir Unnur, Sigurdsson Engilbert, Jonsson Palmi V, Palmadottir Vala Kolbrun, Gudjonsson Sigurjon A, Halldorsson Gisli H, Ferkingstad Egil, Jonsdottir Ingileif, Thorleifsson Gudmar, Holm Hilma, Thorsteinsdottir Unnur, Sulem Patrick, Gudbjartsson Daniel F, Stefansson Hreinn, Thorgeirsson Thorgeir E, Ulfarsson Magnus O, Stefansson Ka |
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment. Children (Basel, Switzerland) 2023 7 10 (7): . Erin M Andres, Kathleen Kelsey Earnest, Hao Xuan, Cuncong Zhong, Mabel L Rice, Muhammad Hashim Ra |
Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort. Research square 2023 6 . Jerome Rotter, Xiaohui Li, Leah A Owen, Kent Taylor, Susan Ostmo, Yii-Der Ida Chen, Aaron Coyner, Kemal Sonmez, M Elizabeth Hartnett, Xiuqing Guo, Eli Ipp, Kathryn Roll, Pauline Genter, R V Paul Chan, Margaret DeAngelis, Michael Chiang, J Peter Campbe |
ATRX is a predictive marker for endocrinotherapy and chemotherapy resistance in HER2-/HR+ breast cancer through the regulation of the AR, GLI3 and GATA2 transcriptional network. Aging 2023 12 15 . Hongyan Qian, Rui Ji, Cheng Shen, Yinze Wei, Chenyi Sheng, Qichao Ni, Jing Pan, Yifan Chi, Huan You, Ying Miao, Minxin Shi, Xianghua Huang, Aiguo Sh |
Genome-wide association identifies novel ROP risk loci in a multiethnic cohort. Communications biology 2024 1 7 (1): 107. Xiaohui Li, Leah A Owen, Kent D Taylor, Susan Ostmo, Yii-Der Ida Chen, Aaron S Coyner, Kemal Sonmez, M Elizabeth Hartnett, Xiuqing Guo, Eli Ipp, Kathryn Roll, Pauline Genter, R V Paul Chan, Margaret M DeAngelis, Michael F Chiang, J Peter Campbell, Jerome I Rotter, |
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- Page last updated:Apr 16, 2024
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