Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Syndrome and SUFU[original query] |
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| High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Jun 30 (17): 2087-93. Brugières Laurence, Remenieras Audrey, Pierron Gaëlle, Varlet Pascale, Forget Sébastien, Byrde Véronique, Bombled Johny, Puget Stéphanie, Caron Olivier, Dufour Christelle, Delattre Olivier, Bressac-de Paillerets Brigitte, Grill Jacqu |
| 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 |
| Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults. JAMA neurology 2017 8 74 (9): 1123-1129. Pathmanaban Omar N, Sadler Katherine V, Kamaly-Asl Ian D, King Andrew T, Rutherford Scott A, Hammerbeck-Ward Charlotte, McCabe Martin G, Kilday John-Paul, Beetz Christian, Poplawski Nicola K, Evans D Gareth, Smith Miriam |
| 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 |
| 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 |
| The mutational burden and oligogenic inheritance in Klippel-Feil syndrome. BMC musculoskeletal disorders 2020 Apr 21 (1): 220. Li Ziquan, Zhao Sen, Cai Siyi, Zhang Yuanqiang, Wang Lianlei, Niu Yuchen, Li Xiaoxin, Hu Jianhua, Chen Jingdan, Wang Shengru, Wang Huizi, Liu Gang, Tian Ye, Wu Zhihong, Zhang Terry Jianguo, , Wang Yipeng, Wu N |
| Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of personalized medicine 2021 8 11 (7): . Slater Emily P, Wilke Lisa M, Böhm Lutz Benedikt, Strauch Konstantin, Lutz Manuel, Gercke Norman, Matthäi Elvira, Hemminki Kari, Försti Asta, Schlesner Matthias, Paramasivam Nagarajan, Bartsch Detlef |
| PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. Familial cancer 2021 Jun . Smith Miriam J, Evans D Gare |
| 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 |
| 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- |
| Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. Journal of medical genetics 2022 6 59 (11): 1123-32. Guerrini-Rousseau Léa, Masliah-Planchon Julien, Waszak Sebastian M, Alhopuro Pia, Benusiglio Patrick R, Bourdeaut Franck, Brecht Ines B, Del Baldo Giada, Dhanda Sandeep Kumar, Garrè Maria Luisa, Gidding Corrie E M, Hirsch Steffen, Hoarau Pauline, Jorgensen Mette, Kratz Christian, Lafay-Cousin Lucie, Mastronuzzi Angela, Pastorino Lorenza, Pfister Stefan M, Schroeder Christopher, Smith Miriam Jane, Vahteristo Pia, Vibert Roseline, Vilain Catheline, Waespe Nicolas, Winship Ingrid M, Evans D Gareth, Brugieres Lauren |
| The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
| 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 |
| Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series. Journal of cutaneous pathology 2024 9 . Mashiro van Dal, Sanne R Martens-de Kemp, Antien L Mooyaart, Walter Voogt, Marlies Wakkee, Jeffrey Damm |
| Mosaic SUFU mutation associated with a mild phenotype of multiple hereditary infundibulocystic basal cell carcinoma syndrome. The Journal of dermatology 2024 8 . Marina Hamada, Tokimasa Hida, Masashi Idogawa, Shoichiro Tange, Takafumi Kamiya, Masae Okura, Toshiharu Yamashita, Takashi Tokino, Hisashi Uha |
| Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2024 11 . Itsuki Hideshima, Yuriko Nakamura, Shoko Onodera, Yoshihiko Akashi, Kenichi Matsuzaka, Masayuki Takano, Takeshi Nomura, Akira Katakura, Toshifumi Azu |
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