Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: SUFU[original query] |
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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 |
Targeted next-generation sequencing reveals recurrence-associated genomic alterations in early-stage non-small cell lung cancer. Oncotarget 2018 Nov 9 (91): 36344-36357. Cho William C S, Tan Kien Thiam, Ma Victor W S, Li Jacky Y C, Ngan Roger K C, Cheuk Wah, Yip Timothy T C, Yang Yi-Ting, Chen Shu-J |
Association analysis between SUFU polymorphism rs17114808 and acute graft versus host disease after hematopoietic stem cell transplantation. Bone marrow transplantation 2018 Jan . Katz Marie C, Michaelis Sebastian, Siegmund Darina M, Koch Renate, Bethge Wolfgang, Handgretinger Rupert, Mezger Mark |
Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms. Gastroenterology 2019 Feb . Skaro Michael, Nanda Neha, Gauthier Christian, Felsenstein Matthäus, Jiang Zhengdong, Qiu Miaozhen, Shindo Koji, Yu Jun, Hutchings Danielle, Javed Ammar A, Beckman Ross, He Jin, Wolfgang Christopher L, Thompson Elizabeth, Hruban Ralph H, Klein Alison P, Goggins Michael, Wood Laura D, Roberts Nicholas |
Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker. Acta neuropathologica 2019 Nov . Korshunov Andrey, Okonechnikov Konstantin, Sahm Felix, Ryzhova Marina, Stichel Damian, Schrimpf Daniel, Ghasemi David R, Pajtler Kristian W, Antonelli Manila, Donofrio Vittoria, Mastronuzzi Angela, Rossi Sabrina, Camassei Francesca Diomedi, Buccoliero Anna Maria, Haberler Christine, Slavc Irene, Dahiya Sonika, Casalini Belen, Sievers Philipp, Meyer Jochen, Kumirova Ella, Zheludkova Olga, Golanov Andrey, Jones David T W, Pfister Stefan M, Kool Marcel, von Deimling Andre |
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 |
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 |
SUFU: The Jekyll and Hyde of the Cerebellum. Developmental cell 2019 1 48 (2): 131-132. Kim Leo J Y, Bhargava Shruti, Gimple Ryan C, Rich Jeremy |
Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome. Pigment cell & melanoma research 2019 Jan . Kenawy Nihal, Kalirai Helen, Sacco Joseph J, Lake Sarah L, Heegaard Steffen, Larsen Ann-Cathrine, Finger Paul T, Milman Tatyana, Chin Kimberly, Mosci Carlo, Lanza Francesco, Moulin Alexandre, Schmitt Caroline A, Caujolle Jean Pierre, Maschi Célia, Marinkovic Marina, Taktak Azzam F, Heimann Heinrich, Damato Bertil E, Coupland Sarah |
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 |
A genome-wide association study on medulloblastoma. Journal of neuro-oncology 2020 Feb . Dahlin Anna M, Wibom Carl, Andersson Ulrika, Bybjerg-Grauholm Jonas, Deltour Isabelle, Hougaard David M, Scheurer Michael E, Lau Ching C, McKean-Cowdin Roberta, Kennedy Rebekah J, Hung Long T, Yee Janis, Margol Ashley S, Barrington-Trimis Jessica, Gauderman W James, Feychting Maria, Schüz Joachim, Röösli Martin, Kjaerheim Kristina, , Januszkiewicz-Lewandowska Danuta, Fichna Marta, Nowak Jerzy, Searles Nielsen Susan, Asgharzadeh Shahab, Mirabello Lisa, Hjalmars Ulf, Melin Beatri |
Clinical and mutational profiles of adult medulloblastoma groups. Acta neuropathologica communications 2020 Nov 8 (1): 191. Wong Gabriel Chun-Hei, Li Kay Ka-Wai, Wang Wei-Wei, Liu Anthony Pak-Yin, Huang Queenie Junqi, Chan Aden Ka-Yin, Poon Manix Fung-Man, Chung Nellie Yuk-Fei, Wong Queenie Hoi-Wing, Chen Hong, Chan Danny Tat Ming, Liu Xian-Zhi, Mao Ying, Zhang Zhen-Yu, Shi Zhi-Feng, Ng Ho-Keu |
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients. Frontiers in endocrinology 2021 9 12 711991. Yu Chenxi, Xie Bobo, Zhao Zhengye, Zhao Sen, Liu Lian, Cheng Xi, Li Xiaoxin, Cao Bingyan, Shao Jiashen, Chen Jiajia, Zhao Hengqiang, Yan Zihui, Su Chang, Niu Yuchen, Song Yanning, Wei Liya, Wang Yi, Ren Xiaoya, Fan Lijun, Zhang Beibei, Li Chuan, Gui Baoheng, Zhang Yuanqiang, Wang Lianlei, Chen Shaoke, Zhang Jianguo, Wu Zhihong, Gong Chunxiu, Fan Xin, Wu N |
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 |
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 |
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
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 |
Medulloblastoma in Adults: Cytogenetic Phenotypes Identify Prognostic Subgroups. Journal of neuropathology and experimental neurology 2021 Apr 80 (5): 419-430. Goschzik Tobias, Zur Muehlen Anja, Doerner Evelyn, Waha Andreas, Friedrich Carsten, Hau Peter, Pietsch Torst |
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- |
Genetic regulatory and biological implications of the 10q24.32 schizophrenia risk locus. Brain : a journal of neurology 2022 9 . Wang Junyang, Liu Jiewei, Li Shiwu, Li Xiaoyan, Yang Jinfeng, Dang Xinglun, Mu Changgai, Li Yifan, Li Kaiqin, Li Jiao, Chen Rui, Liu Yixing, Huang Di, Zhang Zhijun, Luo Xiong Ji |
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 |
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 |
Prognostic impact of genetic alterations and methylation classes in meningioma. Brain pathology (Zurich, Switzerland) 2022 Mar 32 (2): e12970. Berghoff Anna S, Hielscher Thomas, Ricken Gerda, Furtner Julia, Schrimpf Daniel, Widhalm Georg, Rajky Ursula, Marosi Christine, Hainfellner Johannes A, von Deimling Andreas, Sahm Felix, Preusser Matthi |
A clinicopathological exploration of Hedgehog signaling: implications in oral carcinogenesis. Journal of cancer research and clinical oncology 2023 9 . Hitarth V Patel, Jigna S Joshi, Franky D Sh |
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 |
Screening Indels from the whole genome to identify the candidates and their association with economic traits in several goat breeds. Functional & integrative genomics 2023 2 23 (1): 58. Saleh Ahmed A, Xue Lei, Zhao Yong |
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- Page last updated:Apr 22, 2024
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