Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: Syndrome and PTCH1[original query] |
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[Studies on keratocystic odontogenic tumors]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2009 Feb 41 (1): 16-20. Li Tie-jun, Sun Li-sha, Luo Hai-yan, Yuan Jun-wei, Gao Li, Gu Xiao-mei, Li Xue-fen, Xu Li- |
PTCH1 gene haplotype association with basal cell carcinoma after transplantation. The British journal of dermatology 2010 Aug 163 (2): 364-70. Begnini A, Tessari G, Turco A, Malerba G, Naldi L, Gotti E, Boschiero L, Forni A, Rugiu C, Piaserico S, Fortina A B, Brunello A, Cascone C, Girolomoni G, Gomez Lira |
Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clinical cancer research : an official journal of the American Association for Cancer Research 2010 1 16 (2): 442-50. Pan Shuang, Dong Qing, Sun Li-Sha, Li Tie-J |
Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features. PloS one 2013 8 (8): e70995. Shimada Yasuyuki, Katsube Ken-ichi, Kabasawa Yuji, Morita Kei-ichi, Omura Ken, Yamaguchi Akira, Sakamoto K |
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. PloS one 2013 8 (10): e77305. Guo Yan-Yan, Zhang Jian-Yun, Li Xue-Fen, Luo Hai-Yan, Chen Feng, Li Tie-J |
Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors. Oral oncology 2015 Jan 51 (1): 40-5. Qu Jiafei, Yu Feiyan, Hong Yingying, Guo Yanyan, Sun Lisha, Li Xuefen, Zhang Jianyun, Zhang Heyu, Shi Ruirui, Chen Feng, Li Tiej |
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 |
PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). Anticancer research 2017 12 38 (1): 471-476. Ponti Giovanni, Manfredini Marco, Pastorino Lorenza, Maccaferri Monia, Tomasi Aldo, Pellacani Giovan |
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 |
Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. The Journal of craniofacial surgery 2018 1 29 (3): e252-e255. Sim Yookyeong Carolyn, Kim Gu-Hwan, Choi Sung-Weon, Ahn Kang-M |
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 |
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 |
Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome. DNA and cell biology 2020 7 39 (10): 1754-1759. Cao Ruixue, Liu Sijie, Chai Weiran, Shen Pinqu |
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. Familial cancer 2021 Jun . Smith Miriam J, Evans D Gare |
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- |
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG). Familial cancer 2021 4 20 (4): 317-325. Guerrini-Rousseau L, Smith M J, Kratz C P, Doergeloh B, Hirsch S, Hopman S M J, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador H, Waespe N, Claret B, Brugieres L, Evans D |
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 |
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 |
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing. Scientific reports 2021 Jan 11 (1): 1163. Kim Boram, Kim Man Jin, Hur Keunyoung, Jo Seong Jin, Ko Jung Min, Park Sung Sup, Seong Moon-Woo, Mun Je- |
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 |
[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 |
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, |
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 |
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 |
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 |
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- Page last updated:Apr 16, 2024
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