Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
Query Trace: GLI2[original query] |
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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 |
A genome-wide association study of essential hypertension in an Australian population using a DNA pooling approach. Molecular genetics and genomics : MGG 2016 Nov . Fowdar Javed Y, Grealy Rebecca, Lu Yi, Griffiths Lyn |
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients. The Journal of clinical endocrinology and metabolism 2017 Nov . Zwaveling-Soonawala Nitash, Alders Marielle, Jongejan Aldo, Kovacic Lidija, Duijkers Floor A, Maas Saskia M, Fliers Eric, van Trotsenburg A S Paul, Hennekam Raoul |
Molecular differences in IDH wildtype glioblastoma according to MGMT promoter methylation. Neuro-oncology 2017 Aug . Kessler Tobias, Sahm Felix, Sadik Ahmed, Stichel Damian, Hertenstein Anne, Reifenberger Guido, Zacher Angela, Sabel Michael, Tabatabai Ghazaleh, Steinbach Joachim, Sure Ulrich, Krex Dietmar, Grosu Anca-L, Bewerunge-Hudler Melanie, Jones David, Pfister Stefan M, Weller Michael, Opitz Christiane, Bendszus Martin, von Deimling Andreas, Platten Michael, Wick Wolfga |
Previous miscarriages and GLI2 are associated with anorectal malformations in offspring. Human reproduction (Oxford, England) 2017 Jan . van de Putte Romy, Wijers Charlotte H W, de Blaauw Ivo, Marcelis Carlo L M, Sloots Cornelius E J, Brooks Alice S, Broens Paul M A, Roeleveld Nel, van der Zanden Loes F M, van Rooij Iris A L |
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. Clinical endocrinology 2018 12 90 (3): 449-456. Babu Deepak, Fanelli Antonella, Mellone Simona, Muniswamy Ranjith, Wasniewska Malgorzata, Prodam Flavia, Petri Antonella, Bellone Simonetta, Salerno Maria Carolina, Giordano Ma |
The Loss of SMAD4/DPC4 Expression Associated with a Strongly Activated Hedgehog Signaling Pathway Predicts Poor Prognosis in Resected Pancreatic Cancer. Journal of Cancer 2019 8 10 (17): 4123-4131. Xu Jin-Zhi, Wang Wen-Quan, Zhang Wu-Hu, Xu Hua-Xiang, Gao He-Li, Zhang Shi-Rong, Wu Chun-Tao, Li Shuo, Li Hao, Xu Jin, Yu Xian-Jun, Liu Lia |
Nocturnal Hypoxia Activation of the Hedgehog Signaling Pathway Affects Pediatric Nonalcoholic Fatty Liver Disease Severity. Hepatology communications 2019 7 3 (7): 883-893. Sundaram Shikha S, Swiderska-Syn Marzena, Sokol Ronald J, Halbower Ann C, Capocelli Kelley E, Pan Zhaoxing, Robbins Kristen, Graham Brian, Diehl Anna M |
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America 2019 7 116 (30): 15116-15121. Timberlake Andrew T, Jin Sheng Chih, Nelson-Williams Carol, Wu Robin, Furey Charuta G, Islam Barira, Haider Shozeb, Loring Erin, Galm Amy, , Steinbacher Derek M, Larysz Dawid, Staffenberg David A, Flores Roberto L, Rodriguez Eduardo D, Boggon Titus J, Persing John A, Lifton Richard |
[Analysis of single-nucleotide polymorphism of Sonic hedgehog signaling pathway in non-syndromic cleft lip and/or palate in the Chinese population]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2019 Jun 51 (3): 556-563. Zhang J N, Song F Q, Zhou S N, Zheng H, Peng L Y, Zhang Q, Zhao W H, Zhang T W, Li W R, Zhou Z B, Lin J X, Chen |
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 |
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections 2019 4 8 (5): 590-595. Nakaguma Marilena, Correa Fernanda A, Santana Lucas S, Benedetti Anna F F, Perez Ricardo V, Huayllas Martha K P, Miras Mirta B, Funari Mariana F A, Lerario Antonio M, Mendonca Berenice B, Carvalho Luciani R S, Jorge Alexander A L, Arnhold Ivo J |
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors. The American journal of surgical pathology 2019 11 44 (4): 553-560. Stojanov Ivan J, Schaefer Inga-Marie, Menon Reshma S, Wasman Jay, Gokozan Hamza N, Garcia Elizabeth P, Baur Dale A, Woo Sook-Bin, Sholl Lynette |
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 |
SUFU: The Jekyll and Hyde of the Cerebellum. Developmental cell 2019 1 48 (2): 131-132. Kim Leo J Y, Bhargava Shruti, Gimple Ryan C, Rich Jeremy |
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. PloS one 2019 1 14 (1): e0210097. Valenza Fabiola, Cittaro Davide, Stupka Elia, Biancolini Donatella, Patricelli Maria Grazia, Bonanomi Dario, Lazarevi? Dej |
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 |
Recurrence-Associated Multi-RNA Signature to Predict Disease-Free Survival for Ovarian Cancer Patients. BioMed research international 2020 2020 1618527. Zhang Yu, Ye Qingjian, He Junxian, Chen Peigen, Wan Jing, Li Jing, Yang Yuebo, Li Xiaom |
Patched 1 expression in Merkel cell carcinoma. The Journal of dermatology 2020 11 48 (1): 64-74. Gambichler Thilo, Dreißigacker Max, Kasakovski Dimitri, Skrygan Marina, Wieland Ulrike, Silling Steffi, Gravemeyer Jan, Melior Anita, Cherouny Angela, Stücker Markus, Stockfleth Eggert, Sand Michael, Becker Jürgen |
Subgroup and subtype-specific outcomes in adult medulloblastoma. Acta neuropathologica 2021 8 142 (5): 859-871. Coltin Hallie, Sundaresan Lakshmikirupa, Smith Kyle S, Skowron Patryk, Massimi Luca, Eberhart Charles G, Schreck Karisa C, Gupta Nalin, Weiss William A, Tirapelli Daniela, Carlotti Carlos, Li Kay K W, Ryzhova Marina, Golanov Andrey, Zheludkova Olga, Absalyamova Oksana, Okonechnikov Konstantin, Stichel Damian, von Deimling Andreas, Giannini Caterina, Raskin Scott, Van Meir Erwin G, Chan Jennifer A, Fults Daniel, Chambless Lola B, Kim Seung-Ki, Vasiljevic Alexandre, Faure-Conter Cecile, Vibhakar Rajeev, Jung Shin, Leary Sarah, Mora Jaume, McLendon Roger E, Pollack Ian F, Hauser Peter, Grajkowska Wieslawa A, Rubin Joshua B, van Veelen Marie-Lise C, French Pim J, Kros Johan M, Liau Linda M, Pfister Stefan M, Kool Marcel, Kijima Noriyuki, Taylor Michael D, Packer Roger J, Northcott Paul A, Korshunov Andrey, Ramaswamy Vij |
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 |
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism 2021 Mar . Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
Heterotopic ossification in lymph node metastasis after rectal cancer resection: a case report and literature review. World journal of surgical oncology 2021 (1): 2. Nagano Hideki, Togawa Tamotsu, Watanabe Takeshi, Ohnishi Kenji, Kimura Toshihisa, Iida Atsushi, Noriki Sakon, Imamura Yoshiaki, Sato Yasunori, Goi Takano |
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 |
Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study.
Diabetology & metabolic syndrome 2021 6 13 (1): 59. Wan Jia Y, Goodman Deborah L, Willems Emileigh L, Freedland Alexis R, Norden-Krichmar Trina M, Santorico Stephanie A, Edwards Karen L, |
Associations of keratinocyte cancers with snp variants in the sonic hedgehog pathway. BMC cancer 2022 May 22 (1): 490. Rodriguez-Acevedo Astrid J, Antonsson Annika, Liyanage Upekha E, Hughes Maria Celia, Gordon Scott, van der Pols Jolieke, Green Adele |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
Dental Anomalies and Genetic Polymorphisms as Predictors of Maxillofacial Growth in Individuals Born with Cleft Lip and Palate. Journal of dental research 2023 6 220345231169915. R H W Lacerda, A R Viei |
Germline cancer gene expression quantitative trait loci are associated with local and global tumor mutations. Cancer research 2023 2 . Liu Yuxi, Gusev Alexander, Kraft Pet |
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes. Archives of endocrinology and metabolism 2023 11 68 e220254. Tar?k K?rkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbanto?lu, Beyhan Özkaya, Hüseyin An?l Korkmaz, Filiz Hazan, Behzat Özk |
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- Page last updated:Apr 22, 2024
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