Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 13 (of 13 Records) |
| Query Trace: Nevoid Basal Cell Carcinoma Syndrome[original query] |
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| Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Archives of dermatological research 2005 Jan 296 (7): 303-8. Tanioka Miki, Takahashi Katsu, Kawabata Tomohiro, Kosugi Shinji, Murakami Kenichiro, Miyachi Yoshiki, Nishigori Chikako, Iizuka Tadahi |
| Contributions of PTCH gene variants to isolated cleft lip and palate. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006 1 43 (1): 21-9. Mansilla M A, Cooper M E, Goldstein T, Castilla E E, Lopez Camelo J S, Marazita M L, Murray J |
| 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 |
| Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2014 Apr 27 (4): 516-23. Scott Glynis A, Laughlin Todd S, Rothberg Paul |
| 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 |
| 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 |
| Absence of BRAFV600E immunohistochemical expression in sporadic odontogenic keratocyst, syndromic odontogenic keratocyst and orthokeratinized odontogenic cyst. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2020 6 49 (10): 1061-1067. Jain Kejal S, Bodhankar Kshitija, Desai Rajiv S, Bansal Shivani, Shirsat Pankaj, Prasad Pooja, Shah Aakru |
| 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- |
| 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 |
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