Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 33 Records) |
| Query Trace: Disease and PTCH1[original query] |
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Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Nature genetics 2014 Jul 46 (7): 669-77. Loth Daan W, Artigas María Soler, Gharib Sina A, Wain Louise V, Franceschini Nora, Koch Beate, Pottinger Tess D, Smith Albert Vernon, Duan Qing, Oldmeadow Chris, Lee Mi Kyeong, Strachan David P, James Alan L, Huffman Jennifer E, Vitart Veronique, Ramasamy Adaikalavan, Wareham Nicholas J, Kaprio Jaakko, Wang Xin-Qun, Trochet Holly, Kähönen Mika, Flexeder Claudia, Albrecht Eva, Lopez Lorna M, de Jong Kim, Thyagarajan Bharat, Alves Alexessander Couto, Enroth Stefan, Omenaas Ernst, Joshi Peter K, Fall Tove, Viñuela Ana, Launer Lenore J, Loehr Laura R, Fornage Myriam, Li Guo, Wilk Jemma B, Tang Wenbo, Manichaikul Ani, Lahousse Lies, Harris Tamara B, North Kari E, Rudnicka Alicja R, Hui Jennie, Gu Xiangjun, Lumley Thomas, Wright Alan F, Hastie Nicholas D, Campbell Susan, Kumar Rajesh, Pin Isabelle, Scott Robert A, Pietiläinen Kirsi H, Surakka Ida, Liu Yongmei, Holliday Elizabeth G, Schulz Holger, Heinrich Joachim, Davies Gail, Vonk Judith M, Wojczynski Mary, Pouta Anneli, Johansson Asa, Wild Sarah H, Ingelsson Erik, Rivadeneira Fernando, Völzke Henry, Hysi Pirro G, Eiriksdottir Gudny, Morrison Alanna C, Rotter Jerome I, Gao Wei, Postma Dirkje S, White Wendy B, Rich Stephen S, Hofman Albert, Aspelund Thor, Couper David, Smith Lewis J, Psaty Bruce M, Lohman Kurt, Burchard Esteban G, Uitterlinden André G, Garcia Melissa, Joubert Bonnie R, McArdle Wendy L, Musk A Bill, Hansel Nadia, Heckbert Susan R, Zgaga Lina, van Meurs Joyce B J, Navarro Pau, Rudan Igor, Oh Yeon-Mok, Redline Susan, Jarvis Deborah L, Zhao Jing Hua, Rantanen Taina, O'Connor George T, Ripatti Samuli, Scott Rodney J, Karrasch Stefan, Grallert Harald, Gaddis Nathan C, Starr John M, Wijmenga Cisca, Minster Ryan L, Lederer David J, Pekkanen Juha, Gyllensten Ulf, Campbell Harry, Morris Andrew P, Gläser Sven, Hammond Christopher J, Burkart Kristin M, Beilby John, Kritchevsky Stephen B, Gudnason Vilmundur, Hancock Dana B, Williams O Dale, Polasek Ozren, Zemunik Tatijana, Kolcic Ivana, Petrini Marcy F, Wjst Matthias, Kim Woo Jin, Porteous David J, Scotland Generation, Smith Blair H, Viljanen Anne, Heliövaara Markku, Attia John R, Sayers Ian, Hampel Regina, Gieger Christian, Deary Ian J, Boezen H Marike, Newman Anne, Jarvelin Marjo-Riitta, Wilson James F, Lind Lars, Stricker Bruno H, Teumer Alexander, Spector Timothy D, Melén Erik, Peters Marjolein J, Lange Leslie A, Barr R Graham, Bracke Ken R, Verhamme Fien M, Sung Joohon, Hiemstra Pieter S, Cassano Patricia A, Sood Akshay, Hayward Caroline, Dupuis Josée, Hall Ian P, Brusselle Guy G, Tobin Martin D, London Stephanie |
| CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma. Journal of neuro-oncology 2015 Aug . Dahlin Anna M, Hollegaard Mads V, Wibom Carl, Andersson Ulrika, Hougaard David M, Deltour Isabelle, Hjalmars Ulf, Melin Beatri |
| iGWAS: Integrative Genome-Wide Association Studies of Genetic and Genomic Data for Disease Susceptibility Using Mediation Analysis. Genetic epidemiology 2015 Jul 39 (5): 347-56. Huang Yen-Tsung, Liang Liming, Moffatt Miriam F, Cookson William O C M, Lin Xiho |
| Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2016 40 (3-4): 509-526. Wang Yang, Wang Jun, Zhou Ying, Wei Zhiyun, Xiao Yongtao, Zhou Kejun, Wen Jie, Yan Junkai, Cai W |
| Clinical correlation of extensive-stage small-cell lung cancer genomics. Annals of oncology : official journal of the European Society for Medical Oncology 2016 Apr 27 (4): 642-7. Dowlati A, Lipka M B, McColl K, Dabir S, Behtaj M, Kresak A, Miron A, Yang M, Sharma N, Fu P, Wildey |
| Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. The British journal of dermatology 2017 7 178 (1): 198-206. Alonso N, Cañueto J, Ciria S, Bueno E, Palacios-Alvarez I, Alegre M, Badenas C, Barreiro A, Pena L, Maldonado C, Nespeira-Jato M V, Peña-Penabad C, Azon A, Gavrilova M, Ferrer I, Sanmartin O, Robles L, Hernandez-Martin A, Urioste M, Puig S, Puig L, Gonzalez-Sarmiento |
| Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1. Genome medicine 2017 May 9 (1): 46. Sveen Anita, Johannessen Bjarne, Tengs Torstein, Danielsen Stine A, Eilertsen Ina A, Lind Guro E, Berg Kaja C G, Leithe Edward, Meza-Zepeda Leonardo A, Domingo Enric, Myklebost Ola, Kerr David, Tomlinson Ian, Nesbakken Arild, Skotheim Rolf I, Lothe Ragnhild |
| ARID1B alterations identify aggressive tumors in neuroblastoma. Oncotarget 2017 Jul 8 (28): 45943-45950. Lee Soo Hyun, Kim Jung-Sun, Zheng Siyuan, Huse Jason T, Bae Joon Seol, Lee Ji Won, Yoo Keon Hee, Koo Hong Hoe, Kyung Sungkyu, Park Woong-Yang, Sung Ki |
| A mutational comparison of adult and adolescent and young adult (AYA) colon cancer. Cancer 2017 Nov . Tricoli James V, Boardman Lisa A, Patidar Rajesh, Sindiri Sivasish, Jang Jin S, Walsh William D, McGregor Paul M, Camalier Corinne E, Mehaffey Michele G, Furman Wayne L, Bahrami Armita, Williams P Mickey, Lih Chih-Jian, Conley Barbara A, Khan Jav |
| Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population. Cancer biomarkers : section A of Disease markers 2017 Oct . Lu Nanhang, Wang Jinzeng, Zhu Bijun, Zhang Miaomiao, Qi Fazhi, Wang Xiangdong, Gu Jianyi |
| Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
| Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease. Journal of cellular and molecular medicine 2018 Apr . Wang Yang, Yan Weihui, Wang Jun, Zhou Ying, Chen Jie, Gu Beilin, Cai W |
| Two novel colorectal cancer risk loci in the region on chromosome 9q22.32. Oncotarget 2018 Feb 9 (13): 11170-11179. Thutkawkorapin Jessada, Mahdessian Hovsep, Barber Tom, Picelli Simone, von Holst Susanna, Lundin Johanna, Valle Laura, Kontham Vinaykumar, Liu Tao, Nilsson Daniel, Jiao Xiang, Lindblom Anni |
| Patched homolog 1 (PTCHI) gene mutations can predict the outcome of chronic myeloid leukemia patients? American journal of blood research 2019 7 9 (2): 15-24. Abd Elrhman Heba E, Ebian Huda |
| [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 |
| Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors. European urology focus 2019 6 5 (5): 748-755. Necchi Andrea, Bratslavsky Gennady, Shapiro Oleg, Elvin Julia A, Vergilio Jo-Anne, Killian Jonathan K, Ngo Nhu, Ramkissoon Shakti, Severson Eric, Hemmerich Amanda C, Ali Siraj M, Chung Jon H, Reddy Prasanth, Miller Vincent A, Schrock Alexa B, Gay Laurie M, Ross Jeffrey S, Jacob Joseph |
| 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 |
| Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study. Chinese medical journal 2020 Aug . Kang Xi, Guo Ting, Liu Lyu, Ding Shui-Zi, Lei Cheng, Luo Ho |
| Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease. Aging 2020 3 12 (5): 4379-4393. Wang Yang, Jiang Qian, Cai Hao, Xu Ze, Wu Wenjie, Gu Beilin, Li Long, Cai W |
| Genomic analysis for the prediction of prognosis in small-bowel cancer. PloS one 2021 16 (5): e0241454. Tsuboi Akiyoshi, Urabe Yuji, Oka Shiro, Sumioka Akihiko, Iio Sumio, Yuge Ryo, Hayashi Ryohei, Kuwai Toshio, Kitadai Yasuhiko, Kuraoka Kazuya, Arihiro Koji, Tanaka Shinji, Chayama Kazua |
| Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor. Annals of dermatology 2021 4 30 (5): 597-601. Hsu Shih-Wen, Lin Chien-Yio, Wang Chuang-Wei, Chung Wen-Hung, Yang Chih-Hsun, Chang Yao- |
| 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 |
| Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 2021 1 12 (1): . Haug Patricia, Koller Samuel, Maggi Jordi, Lang Elena, Feil Silke, Wlodarczyk Agnès, Bähr Luzy, Steindl Katharina, Rohrbach Marianne, Gerth-Kahlert Christina, Berger Wolfga |
| Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. Pediatric reports 2021 1 13 (1): 45-56. Pelizzo Gloria, Chiricosta Luigi, Mazzon Emanuela, Zuccotti Gian Vincenzo, Avanzini Maria Antonietta, Croce Stefania, Lima Mario, Bramanti Placido, Calcaterra Valer |
| Prognostic significance of PD-L1 expression and CD8 TILs density for disease-free survival in surgically resected lung squamous cell carcinoma: a retrospective study. Journal of thoracic disease 2022 7 14 (6): 2224-2234. Cheng Xiaomin, Wang Lei, Zhang Zhem |
| Genetic insights into thymic carcinomas and thymic neuroendocrine neoplasms denote prognosis signatures and pathways. Chinese medical journal 2023 9 . Shuyuan Wang, Zhitao Gu, Lei Zhu, Yuchen Han, Hong Yu, Wentao Fang, Baohui H |
| Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. Genes 2023 8 14 (8): . Luiza Côrtes, Tatiane Ramos Basso, Rolando André Rios Villacis, Jeferson Dos Santos Souza, Mads Malik Aagaard Jørgensen, Maria Isabel Achatz, Silvia Regina Rogat |
| First report of medulloblastoma in a patient with MUTYH-associated polyposis. Neuropathology and applied neurobiology 2023 7 e12929. Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard, Voreak Suybeng, Mathias Schwartz, Ivan Bieche, Sophie Vacher, Valérie Laurence, Franck Bourdeaut, Michèle Bernier, Tom Gutman, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Chrystelle Col |
| Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways. International journal of cancer 2024 9 . Carolina Pires, Inês J Marques, Ana Saramago, Margarida M Moura, Marta Pojo, Rafael Cabrera, Catarina Santos, Francisco Rosário, Diana Lousa, João B Vicente, Tiago M Bandeiras, Manuel R Teixeira, Valeriano Leite, Branca M Cava |
| Lung development genes, adult lung function and cognitive traits. Brain communications 2024 11 6 (6): fcae380. Mohammad Talaei, Sheena Waters, Laura Portas, Benjamin M Jacobs, James W Dodd, Charles R Marshall, Cosetta Minelli, Seif O Shahe |
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