Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Disease and SHH[original query] |
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| Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. American journal of medical genetics 2002 Feb 108 (1): 12-5. Orioli Iêda M, Vieira Alexandre R, Castilla Eduardo E, Ming Jeffrey E, Muenke Maximili |
| Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients. Brain research. Molecular brain research 2004 Jul 126 (2): 207-11. Bak Mads, Hansen Claus, Henriksen Karen Friis, Hansen Lars, Pakkenberg Henning, Eiberg Hans, Tommerup Nie |
| [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 |
| Mutational analysis of SHH and GLI3 in anorectal malformations. Birth defects research. Part A, Clinical and molecular teratology 2008 Sep 82 (9): 644-8. Garcia-Barceló Maria-Mercè, Chi-Hang Lui Vincent, Miao Xiaoping, So Man-ting, Yuk-yu Leon Thomas, Yuan Zhen-wei, Li Long, Liu Lei, Wang Bin, Sun Xiao-bing, Huang Liu-Ming, Tou Jin-fa, Sau-wai Ngan Elly, Cherny Stacey S, Chan Kin-wai, Lee Kim-hung, Wang Weiling, Kak-yuen Wong Kenneth, Kwong-hang Tam Pa |
| Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly. Brain & development 2010 Mar 32 (3): 217-22. Bertolacini Claudia Danielli Pereira, Richieri-Costa Antonio, Ribeiro-Bicudo Lucilene Aril |
| [Mutation and expression of WNT8b gene and SHH gene in Hirschsprung disease]. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2010 Oct 13 (10): 758-61. Gao Hong, Zhang Zhi-bo, Jiang Zhong-jia, Wang Da-jia, Huang Ying, Wang Wei-l |
| Pancreatic cancer susceptibility loci and their role in survival. PloS one 2011 6 (11): e27921. Rizzato Cosmeri, Campa Daniele, Giese Nathalia, Werner Jens, Rachakonda P Sivaramakrishna, Kumar Rajiv, Schanné Michaela, Greenhalf William, Costello Eithne, Khaw Kay-Tee, Key Tim J, Siddiq Afshan, Lorenzo-Bermejo Justo, Burwinkel Barbara, Neoptolemos John P, Büchler Markus W, Hoheisel Jörg D, Bauer Andrea, Canzian Federi |
| 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 |
| Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer. Carcinogenesis 2012 Jul 33 (7): 1384-90. Li Donghui, Duell Eric J, Yu Kai, Risch Harvey A, Olson Sara H, Kooperberg Charles, Wolpin Brian M, Jiao Li, Dong Xiaoqun, Wheeler Bill, Arslan Alan A, Bueno-de-Mesquita H Bas, Fuchs Charles S, Gallinger Steven, Gross Myron, Hartge Patricia, Hoover Robert N, Holly Elizabeth A, Jacobs Eric J, Klein Alison P, LaCroix Andrea, Mandelson Margaret T, Petersen Gloria, Zheng Wei, Agalliu Ilir, Albanes Demetrius, Boutron-Ruault Marie-Christine, Bracci Paige M, Buring Julie E, Canzian Federico, Chang Kenneth, Chanock Stephen J, Cotterchio Michelle, Gaziano J Michael, Giovannucci Edward L, Goggins Michael, Hallmans Göran, Hankinson Susan E, Hoffman Bolton Judith A, Hunter David J, Hutchinson Amy, Jacobs Kevin B, Jenab Mazda, Khaw Kay-Tee, Kraft Peter, Krogh Vittorio, Kurtz Robert C, McWilliams Robert R, Mendelsohn Julie B, Patel Alpa V, Rabe Kari G, Riboli Elio, Shu Xiao-Ou, Tjønneland Anne, Tobias Geoffrey S, Trichopoulos Dimitrios, Virtamo Jarmo, Visvanathan Kala, Watters Joanne, Yu Herbert, Zeleniuch-Jacquotte Anne, Amundadottir Laufey, Stolzenberg-Solomon Rachael |
| Insights into pancreatic cancer etiology from pathway analysis of genome-wide association study data. PloS one 2012 7 (10): e46887. Wei Peng, Tang Hongwei, Li Dongh |
| 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 |
| Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome medicine 2017 Oct 9 (1): 95. Li Alexander H, Hanchard Neil A, Furthner Dieter, Fernbach Susan, Azamian Mahshid, Nicosia Annarita, Rosenfeld Jill, Muzny Donna, D'Alessandro Lisa C A, Morris Shaine, Jhangiani Shalini, Parekh Dhaval R, Franklin Wayne J, Lewin Mark, Towbin Jeffrey A, Penny Daniel J, Fraser Charles D, Martin James F, Eng Christine, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Belmont John |
| Comparative Analysis of Mutational Profile of Sonic hedgehog Gene in Gallbladder Cancer. Digestive diseases and sciences 2017 03 62 (3): 708-714. Dixit Ruhi, Pandey Manoj, Tripathi Sunil Kumar, Dwivedi Amit Nandan Dhar, Shukla Vijay Kum |
Novel genetic loci associated with hippocampal volume.
Nature communications 2017 13624. Hibar Derrek P, Adams Hieab H H, Jahanshad Neda, Chauhan Ganesh, Stein Jason L, Hofer Edith, Renteria Miguel E, Bis Joshua C, Arias-Vasquez Alejandro, Ikram M Kamran, Desrivières Sylvane, Vernooij Meike W, Abramovic Lucija, Alhusaini Saud, Amin Najaf, Andersson Micael, Arfanakis Konstantinos, Aribisala Benjamin S, Armstrong Nicola J, Athanasiu Lavinia, Axelsson Tomas, Beecham Ashley H, Beiser Alexa, Bernard Manon, Blanton Susan H, Bohlken Marc M, Boks Marco P, Bralten Janita, Brickman Adam M, Carmichael Owen, Chakravarty M Mallar, Chen Qiang, Ching Christopher R K, Chouraki Vincent, Cuellar-Partida Gabriel, Crivello Fabrice, Den Braber Anouk, Doan Nhat Trung, Ehrlich Stefan, Giddaluru Sudheer, Goldman Aaron L, Gottesman Rebecca F, Grimm Oliver, Griswold Michael E, Guadalupe Tulio, Gutman Boris A, Hass Johanna, Haukvik Unn K, Hoehn David, Holmes Avram J, Hoogman Martine, Janowitz Deborah, Jia Tianye, Jørgensen Kjetil N, Karbalai Nazanin, Kasperaviciute Dalia, Kim Sungeun, Klein Marieke, Kraemer Bernd, Lee Phil H, Liewald David C M, Lopez Lorna M, Luciano Michelle, Macare Christine, Marquand Andre F, Matarin Mar, Mather Karen A, Mattheisen Manuel, McKay David R, Milaneschi Yuri, Muñoz Maniega Susana, Nho Kwangsik, Nugent Allison C, Nyquist Paul, Loohuis Loes M Olde, Oosterlaan Jaap, Papmeyer Martina, Pirpamer Lukas, Pütz Benno, Ramasamy Adaikalavan, Richards Jennifer S, Risacher Shannon L, Roiz-Santiañez Roberto, Rommelse Nanda, Ropele Stefan, Rose Emma J, Royle Natalie A, Rundek Tatjana, Sämann Philipp G, Saremi Arvin, Satizabal Claudia L, Schmaal Lianne, Schork Andrew J, Shen Li, Shin Jean, Shumskaya Elena, Smith Albert V, Sprooten Emma, Strike Lachlan T, Teumer Alexander, Tordesillas-Gutierrez Diana, Toro Roberto, Trabzuni Daniah, Trompet Stella, Vaidya Dhananjay, Van der Grond Jeroen, Van der Lee Sven J, Van der Meer Dennis, Van Donkelaar Marjolein M J, Van Eijk Kristel R, Van Erp Theo G M, Van Rooij Daan, Walton Esther, Westlye Lars T, Whelan Christopher D, Windham Beverly G, Winkler Anderson M, Wittfeld Katharina, Woldehawariat Girma, Wolf Christiane, Wolfers Thomas, Yanek Lisa R, Yang Jingyun, Zijdenbos Alex, Zwiers Marcel P, Agartz Ingrid, Almasy Laura, Ames David, Amouyel Philippe, Andreassen Ole A, Arepalli Sampath, Assareh Amelia A, Barral Sandra, Bastin Mark E, Becker Diane M, Becker James T, Bennett David A, Blangero John, van Bokhoven Hans, Boomsma Dorret I, Brodaty Henry, Brouwer Rachel M, Brunner Han G, Buckner Randy L, Buitelaar Jan K, Bulayeva Kazima B, Cahn Wiepke, Calhoun Vince D, Cannon Dara M, Cavalleri Gianpiero L, Cheng Ching-Yu, Cichon Sven, Cookson Mark R, Corvin Aiden, Crespo-Facorro Benedicto, Curran Joanne E, Czisch Michael, Dale Anders M, Davies Gareth E, De Craen Anton J M, De Geus Eco J C, De Jager Philip L, De Zubicaray Greig I, Deary Ian J, Debette Stéphanie, DeCarli Charles, Delanty Norman, Depondt Chantal, DeStefano Anita, Dillman Allissa, Djurovic Srdjan, Donohoe Gary, Drevets Wayne C, Duggirala Ravi, Dyer Thomas D, Enzinger Christian, Erk Susanne, Espeseth Thomas, Fedko Iryna O, Fernández Guillén, Ferrucci Luigi, Fisher Simon E, Fleischman Debra A, Ford Ian, Fornage Myriam, Foroud Tatiana M, Fox Peter T, Francks Clyde, Fukunaga Masaki, Gibbs J Raphael, Glahn David C, Gollub Randy L, Göring Harald H H, Green Robert C, Gruber Oliver, Gudnason Vilmundur, Guelfi Sebastian, Håberg Asta K, Hansell Narelle K, Hardy John, Hartman Catharina A, Hashimoto Ryota, Hegenscheid Katrin, Heinz Andreas, Le Hellard Stephanie, Hernandez Dena G, Heslenfeld Dirk J, Ho Beng-Choon, Hoekstra Pieter J, Hoffmann Wolfgang, Hofman Albert, Holsboer Florian, Homuth Georg, Hosten Norbert, Hottenga Jouke-Jan, Huentelman Matthew, Hulshoff Pol Hilleke E, Ikeda Masashi, Jack Clifford R, Jenkinson Mark, Johnson Robert, Jönsson Erik G, Jukema J Wouter, Kahn René S, Kanai Ryota, Kloszewska Iwona, Knopman David S, Kochunov Peter, Kwok John B, Lawrie Stephen M, Lemaître Hervé, Liu Xinmin, Longo Dan L, Lopez Oscar L, Lovestone Simon, Martinez Oliver, Martinot Jean-Luc, Mattay Venkata S, McDonald Colm, McIntosh Andrew M, McMahon Francis J, McMahon Katie L, Mecocci Patrizia, Melle Ingrid, Meyer-Lindenberg Andreas, Mohnke Sebastian, Montgomery Grant W, Morris Derek W, Mosley Thomas H, Mühleisen Thomas W, Müller-Myhsok Bertram, Nalls Michael A, Nauck Matthias, Nichols Thomas E, Niessen Wiro J, Nöthen Markus M, Nyberg Lars, Ohi Kazutaka, Olvera Rene L, Ophoff Roel A, Pandolfo Massimo, Paus Tomas, Pausova Zdenka, Penninx Brenda W J H, Pike G Bruce, Potkin Steven G, Psaty Bruce M, Reppermund Simone, Rietschel Marcella, Roffman Joshua L, Romanczuk-Seiferth Nina, Rotter Jerome I, Ryten Mina, Sacco Ralph L, Sachdev Perminder S, Saykin Andrew J, Schmidt Reinhold, Schmidt Helena, Schofield Peter R, Sigursson Sigurdur, Simmons Andrew, Singleton Andrew, Sisodiya Sanjay M, Smith Colin, Smoller Jordan W, Soininen Hilkka, Steen Vidar M, Stott David J, Sussmann Jessika E, Thalamuthu Anbupalam, Toga Arthur W, Traynor Bryan J, Troncoso Juan, Tsolaki Magda, Tzourio Christophe, Uitterlinden Andre G, Hernández Maria C Valdés, Van der Brug Marcel, van der Lugt Aad, van der Wee Nic J A, Van Haren Neeltje E M, van 't Ent Dennis, Van Tol Marie-Jose, Vardarajan Badri N, Vellas Bruno, Veltman Dick J, Völzke Henry, Walter Henrik, Wardlaw Joanna M, Wassink Thomas H, Weale Michael E, Weinberger Daniel R, Weiner Michael W, Wen Wei, Westman Eric, White Tonya, Wong Tien Y, Wright Clinton B, Zielke Ronald H, Zonderman Alan B, Martin Nicholas G, Van Duijn Cornelia M, Wright Margaret J, Longstreth W T, Schumann Gunter, Grabe Hans J, Franke Barbara, Launer Lenore J, Medland Sarah E, Seshadri Sudha, Thompson Paul M, Ikram M Arf |
| Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain : a journal of neurology 2018 12 142 (1): 35-49. Kim Artem, Savary Clara, Dubourg Christèle, Carré Wilfrid, Mouden Charlotte, Hamdi-Rozé Houda, Guyodo Hélène, Douce Jerome Le, , , Pasquier Laurent, Flori Elisabeth, Gonzales Marie, Bénéteau Claire, Boute Odile, Attié-Bitach Tania, Roume Joelle, Goujon Louise, Akloul Linda, Odent Sylvie, Watrin Erwan, Dupé Valérie, de Tayrac Marie, David Véroniq |
| 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 |
| [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 |
| Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. American journal of medical genetics. Part A 2019 10 179 (12): 2517-2531. Klein Steven D, Nguyen Dzung C, Bhakta Viraj, Wong Derek, Chang Vivian Y, Davidson Tom B, Martinez-Agosto Julian |
| Long non-coding RNAs identify a subset of luminal muscle-invasive bladder cancer patients with favorable prognosis. Genome medicine 2019 10 11 (1): 60. de Jong Joep J, Liu Yang, Robertson A Gordon, Seiler Roland, Groeneveld Clarice S, van der Heijden Michiel S, Wright Jonathan L, Douglas James, Dall'Era Marc, Crabb Simon J, van Rhijn Bas W G, van Kessel Kim E M, Davicioni Elai, Castro Mauro A A, Lotan Yair, Zwarthoff Ellen C, Black Peter C, Boormans Joost L, Gibb Ewan |
| Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma. Cancers 2020 9 12 (9): . Azzollini Jacopo, Schiavello Elisabetta, Buttarelli Francesca Romana, Clerici Carlo Alfredo, Tizzoni Laura, Vecchi Giovanna De, Capra Fabio, Pisati Federica, Biassoni Veronica, Runza Letterio, Carrabba Giorgio, Giangaspero Felice, Massimino Maura, Pensotti Valeria, Manoukian Siranou |
| Polymorphisms in GP6, PEAR1A, MRVI1, PIK3CG, JMJD1C, and SHH Genes in Patients with Unstable Angina. International journal of environmental research and public health 2020 Oct 17 (20): . Rudzik Rafa?, Dziedziejko Violetta, Ra? Monika Ewa, Sawczuk Marek, Maciejewska-Skrendo Agnieszka, Safranow Krzysztof, Pawlik Andrz |
| GLI-1 polymorphisms of Hedgehog pathway as novel risk and prognostic biomarkers in melanoma patients. Melanoma research 2021 12 32 (1): 11-17. Dunjic Marija, Lukic Nikola, Djordjevic Boban, Uzelac Bojana, Ostojic Nikola, Supic Gorda |
| Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease. Frontiers in cardiovascular medicine 2022 4 9 798033. Peng Rui, Li Binbin, Chen Shuxia, Shi Zhiwen, Yu Liwei, Gao Yunqian, Yang Xueyan, Lu Lei, Wang Hongy |
| A clinicopathological exploration of Hedgehog signaling: implications in oral carcinogenesis. Journal of cancer research and clinical oncology 2023 9 . Hitarth V Patel, Jigna S Joshi, Franky D Sh |
| MYC promotes aggressive growth and metastasis of a WNT-medulloblastoma mouse model. Developmental neuroscience 2023 8 . Rachel Hartley, Timothy N Phoen |
| Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. Acta neuropathologica 2023 7 . Pascal D Johann, Lea Altendorf, Emma-Maria Efremova, Till Holsten, Mona Steinbügl, Karolina Nemes, Alicia Eckhardt, Catena Kresbach, Michael Bockmayr, Arend Koch, Christine Haberler, Manila Antonelli, John DeSisto, Martin U Schuhmann, Peter Hauser, Reiner Siebert, Susanne Bens, Marcel Kool, Adam L Green, Martin Hasselblatt, Michael C Frühwald, Ulrich Schüll |
| KMT2D suppresses Sonic hedgehog-driven medulloblastoma progression and metastasis. iScience 2023 10 26 (10): 107831. Reeti Mayur Sanghrajka, Richard Koche, Hector Medrano, Salsabiel El Nagar, Daniel N Stephen, Zhimin Lao, N Sumru Bayin, Kai Ge, Alexandra L Joyn |
| Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 2024 9 10 (5): e200180. Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine De Sainte Agathe, Eric Leguern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baul |
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