Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 128 Records) |
Query Trace: PTCH1[original query] |
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Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement.
Neurology. Genetics 2022 2 8 (1): e653. Daghals Iyas, Sargurupremraj Muralidharan, Danning Rebecca, Gormley Padhraig, Malik Rainer, Amouyel Philippe, Metso Tiina, Pezzini Alessandro, Kurth Tobias, Debette Stéphanie, Chasman Dani |
Molecular alterations in retinoblastoma beyond RB1. Experimental eye research 2021 9 211 108753. Mendonça Vanessa, Evangelista Anna Claudia, P Matta Bruna, M Moreira Miguel Ângelo, Faria Paulo, Lucena Evandro, Seuánez Héctor |
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 |
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. Familial cancer 2021 Jun . Smith Miriam J, Evans D Gare |
GWAS-linked hot loci predict short-term functional outcome and recurrence of ischemic stroke in Chinese population. American journal of translational research 2021 13 (5): 4521-4534. Zhu Ruixia, Zhao Yating, Tian Dandan, Guo Na, Zhang Chenguang, Liu |
Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. Oncology 2021 12 100 (3): 163-172. Fukushima Hiroko, Suzuki Ryoko, Yamaki Yuni, Hosaka Sho, Inaba Masako, Muroi Ai, Tsurubuchi Takao, Morii Wataru, Noguchi Emiko, Takada Hidetos |
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 |
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation. Diseases of the colon and rectum 2021 12 65 (6): 793-803. Park Ji Soo, Park Jung Won, Shin Saeam, Lee Seung-Tae, Shin Sang Joon, Min Byung Soh, Park Soo Jung, Park Jae Jun, Cheon Jae Hee, Kim Won Ho, Kim Tae |
[Difference analysis of somatic mutations between deficient mismatch repair and proficient mismatch repair gene related with colorectal cancer]. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2021 10 43 (10): 1088-1093. Tang X J, Yang M Y, Zhu L Z, Xu D, Yuan |
Profile of esophageal squamous cell carcinoma mutations in Brazilian patients. Scientific reports 2021 10 11 (1): 20596. Munari Fernanda Franco, Dos Santos Wellington, Evangelista Adriane Feijó, Carvalho Ana Carolina, Pastrez Paula Aguiar, Bugatti Diego, Wohnrath Durval R, Scapulatempo-Neto Cristovam, Guimarães Denise Peixoto, Longatto-Filho Adhemar, Reis Rui Manu |
Genomic landscape of pleural and peritoneal mesothelioma tumours. British journal of cancer 2022 Sep . Hiltbrunner Stefanie, Fleischmann Zoe, Sokol Ethan S, Zoche Martin, Felley-Bosco Emanuela, Curioni-Fontecedro Alessand |
Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma. Journal of the European Academy of Dermatology and Venereology : JEADV 2022 7 36 (12): 2331-2342. Luo Y, Rao Y, Gu X, Chai P, Yang Y, Lin J, Xu X, Jia R, Xu |
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 |
The genomic landscape of Cronkhite-Canada syndrome: Possible clues for pathogenesis. Journal of digestive diseases 2022 6 23 (5-6): 288-294. Liu Shuang, Zhang Run Feng, You Yan, You Wen, Ruan Ge Chong, Liu Ya Ping, Zhang Sheng Yu, Li Yue, Feng Yun Lu, Yan Xue Min, Zhou Wei Xun, Li Jing Nan, Li Ji, Qian Jia Mi |
Periocular Pigmented Basal Cell Carcinomas: Clinicopathologic Features and Mutational Profile. Ophthalmic plastic and reconstructive surgery 2022 Jun . Hassanin Fadi, Al Hussain Hailah, Maktabi Azza, Adly Nouran, Alsuabeyl Mohammad, Abedalthagafi Malak, Edward Deepak P, Strianese Die |
[Detection of SMO gene mutations in odontogenic keratocyst]. Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 2022 2 57 (2): 149-154. Zhai J M, Wang S, Hong Y Y, Qu J F, Yang C, Li T |
Association between PTCH1 and RAD54B Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran. Avicenna journal of medical biotechnology 2022 12 14 (4): 310-316. Morvaridi Farimani Reza, Azimi-Nezhad Mohsen, KhorramKhorshid Hamid Reza, Ebadifar Asghar, Tohidkhah Saba, Jafarian Zahra, Kamali Koorosh, Nazari Zeinab, Ebrahimzadeh-Vesal Re |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Novel Genome-Wide Interactions Mediated via BOLL and EDNRA Polymorphisms in Intracranial Aneurysm. Journal of Korean Neurosurgical Society 2022 Oct . Hong Eun Pyo, Youn Dong Hyuk, Kim Bong Jun, Lee Jae Jun, Nam Sehyeon, Yoo Hyojong, Kim Heung Cheol, Rhim Jong Kook, Park Jeong Jin, Jeon Jin Pyeo |
Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers. Gene 2022 1 814 146157. Yang Xin-Hua, Xu Bo-Heng, Zhou Da-Lei, Long Ya-Kang, Liu Qing, Huang Chan, Ye Zu-Lu, He Cai-Y |
Assessing the genetic risk of nodular melanoma using a candidate gene approach. The British journal of dermatology 2023 9 . Mitchell S Stark, Richard A Sturm, Yan Pan, Darren J Smit, Varsha Kommajosyula, Katie J Lee, Kasturee Jagirdar, Catriona McLean, David L Duffy, H Peter Soyer, Victoria J M |
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 |
Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers. Cancer medicine 2023 4 . Yoshida Masanori, Nakabayashi Kazuhiko, Yang Wentao, Sato-Otsubo Aiko, Tsujimoto Shin-Ichi, Ogata-Kawata Hiroko, Kawai Tomoko, Ishiwata Keisuke, Sakamoto Mika, Okamura Kohji, Yoshida Kaoru, Shirai Ryota, Osumi Tomoo, Kiyotani Chikako, Shioda Yoko, Terashima Keita, Ishimaru Sae, Yuza Yuki, Takagi Masatoshi, Arakawa Yuki, Imamura Toshihiko, Hasegawa Daisuke, Inoue Akiko, Yoshioka Takako, Ito Shuichi, Tomizawa Daisuke, Koh Katsuyoshi, Matsumoto Kimikazu, Kiyokawa Nobutaka, Ogawa Seishi, Manabe Atsushi, Niwa Akira, Hata Kenichiro, Yang Jun J, Kato Motohi |
Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China. Archives of oral biology 2023 3 149 105660. Ruan Wenyan, Chi Dandan, Wang Yumeng, Ma Jian, Huang Yongqi |
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161. Familial cancer 2023 3 . Smith Miriam J, Woodward Emma R, Evans D Gare |
Whole-exome sequencing of secondary tumors arising from nevus sebaceous revealed additional genomic alterations besides RAS mutations. The Journal of dermatology 2023 3 . Kim Yoon-Seob, Park Gyeong Sin, Chung Yeun-Jun, Lee Ji Hy |
PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico. Journal of clinical laboratory analysis 2024 1 e25010. Marianela Zambrano-Román, Jorge R Padilla-Gutiérrez, Yeminia Valle, José F Muñoz-Valle, Elizabeth Guevara-Gutiérrez, Diana Emilia Martínez-Fernández, Emmanuel Valdés-Alvara |
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- Page last updated:Apr 22, 2024
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