Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Syndrome and FAP[original query] |
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| Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. The Journal of molecular diagnostics : JMD 2010 Jan 12 (1): 82-90. Dymerska Dagmara, Serrano-Fernández Pablo, Suchy Janina, P?awski Andrzej, S?omski Ryszard, Kaklewski Krzysztof, Scott Rodney J, Gronwald Jacek, K?adny Józef, Byrski Tomasz, Huzarski Tomasz, Lubi?ski Jan, Kurzawski Grzego |
| Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. European journal of cancer (Oxford, England : 1990) 2010 Sep 46 (13): 2457-66. Wong Hui-Lee, Peters Ulrike, Hayes Richard B, Huang Wen-Yi, Schatzkin Arthur, Bresalier Robert S, Velie Ellen M, Brody Lawrence |
| Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. Familial cancer 2013 Mar 12 (1): 35-42. Schwarzová Lucie, Štekrová Jitka, Florianová Martina, Novotný Aleš, Schneiderová Michaela, Ln?ni?ka Petr, Kebrdlová V?ra, Kotlas Jaroslav, Veselá Kamila, Kohoutová Mila |
| Association study of APC polymorphisms with colorectal cancer in Han Chinese. Clinical biochemistry 2012 Jul . Huang X, Wang Y, Yu T, Liu B, Li X, Li W, Chen S, Zhao Q, Li X, Yang F, Wang Q, Wang J, Xiao Y, Xu Y, Feng G, Peng Z, He L, He G |
| Contribution of the MLH1 -93G>a promoter polymorphism in modulating susceptibility risk in Malaysian colorectal cancer patients. Asian Pacific journal of cancer prevention : APJCP 2013 14 (2): 619-24. Nizam Zahary Mohd, Abdul Aziz Ahmad Aizat, Kaur Gurjeet, Abu Hassan Muhammad Radzi, Mohd Sidek Ahmad Shanwani, Yeh Lee Yeong, Mazuwin Maya, Ankathil Ravindr |
| Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. Journal of molecular medicine (Berlin, Germany) 2015 Jul . Errichiello Edoardo, Balsamo Antonella, Cerni Marianna, Venesio Tizia |
| Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. Familial cancer 2015 Oct . Papp Janos, Kovacs Marietta Eva, Matrai Zoltan, Orosz Enik?, Kásler Miklós, Børresen-Dale Anne-Lise, Olah Edi |
| CRIBRIFORM-MORULAR VARIANT OF THYROID CANCER - A RED FLAG FOR FAMILIAL ADENOMATOUS POLYPOSIS. The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society 0 167 (3): 148-9. Nair R, Sun G E Chi |
| Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers. Familial cancer 2016 Feb . Ghorbanoghli Z, Nieuwenhuis M H, Houwing-Duistermaat J J, Jagmohan-Changur S, Hes F J, Tops C M, Wagner A, Aalfs C M, Verhoef S, Gómez García E B, Sijmons R H, Menko F H, Letteboer T G, Hoogerbrugge N, van Wezel T, Vasen H F A, Wijnen J |
| Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. Scientific reports 2017 May 7 (1): 2214. Khan Nikhat, Lipsa Anuja, Arunachal Gautham, Ramadwar Mukta, Sarin Raj |
| Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer. BMC cancer 2017 11 17 (1): 754. Stevanato Filho Paulo Roberto, Aguiar Júnior Samuel, Begnami Maria Dirlei, Kuasne Hellen, Spencer Ranyell Matheus, Nakagawa Wilson Toshihiko, Bezerra Tiago Santoro, Kupper Bruna Catin, Takahashi Renata Maymi, Barros Filho Mateus, Rogatto Silvia Regina, Lopes Adem |
| Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition. Genetics in medicine : official journal of the American College of Medical Genetics 2018 12 21 (8): 1868-1873. Olkinuora Alisa, Nieminen Taina T, Mårtensson Emma, Rohlin Anna, Ristimäki Ari, Koskenvuo Laura, Lepistö Anna, , Gebre-Medhin Samuel, Nordling Margareta, Peltomäki Päi |
| Web-Based Model for Predicting Time to Surgery in Young Patients with Familial Adenomatous Polyposis: An Internally Validated Study. The American journal of gastroenterology 2018 10 113 (12): 1881-1890. Sarvepalli Shashank, Burke Carol A, Monachese Marc, Lopez Rocio, Leach Brandie H, Laguardia Lisa, O?Malley Margaret, Kalady Matthew F, Church James |
| Identification of Lynch syndrome risk variants in the Romanian population. Journal of cellular and molecular medicine 2018 Dec 22 (12): 6068-6076. Iordache Paul D, Mates Dana, Gunnarsson Bjarni, Eggertsson Hannes P, Sulem Patrick, Benonisdottir Stefania, Csiki Irma Eva, Rascu Stefan, Radavoi Daniel, Ursu Radu, Staicu Catalin, Calota Violeta, Voinoiu Angelica, Jinga Mariana, Rosoga Gabriel, Danau Razvan, Sima Sorin Cristian, Badescu Daniel, Suciu Nicoleta, Radoi Viorica, Mates Ioan Nicolae, Dobra Mihai, Nicolae Camelia, Kristjansdottir Sigrun, Jonasson Jon G, Manolescu Andrei, Arnadottir Gudny, Jensson Brynjar, Jonasdottir Aslaug, Sigurdsson Asgeir, le Roux Louise, Johannsdottir Hrefna, Rafnar Thorunn, Halldorsson Bjarni V, Jinga Viorel, Stefansson Ka |
| Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China. Journal of gastroenterology and hepatology 2019 5 34 (9): 1497-1503. Li Na, Kang Qian, Yang Lang, Zhao Xiao-Jun, Xue Li-Jun, Wang Xin, Li Ai-Qin, Li Chen-Guang, Sheng Jian-Q |
| Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol. Cancer medicine 2019 3 8 (5): 2114-2122. de Oliveira Junea C, Viana Danilo V, Zanardo Cleyton, Santos Erika M M, de Paula André E, Palmero Edenir I, Rossi Benedito |
| c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. Cancer genetics 2019 11 240 45-53. Kdissa Ameni, Brusgaard Klaus, Ksiaa Mahdi, Golli Lamia, Hallara Olfa, Ousager Lilian Bomme, Manoubi Wiem, Seghaier Rihab Ben, Adala Labiba, Halleb Yosra, Saad Ali, Hmila Fahmi, Gribaa Mo |
| Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
| Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2020 11 39 (6): 599-607. Bhai Pratibha, Kulshrestha Samarth, Puri Ratna D, Bijarnia Mahay Sunita, Saxena Renu, Verma Ishwar Chand |
| Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis. The Journal of molecular diagnostics : JMD 2021 8 23 (11): 1452-1459. Rofes Paula, González Sara, Navarro Matilde, Moreno-Cabrera José Marcos, Solanes Ares, Darder Esther, Carrasco Estela, Iglesias Sílvia, Salinas Mónica, Gómez Carolina, Velasco Àngela, Tuset Noemí, Varela Mar, Llort Gemma, Ramon Y Cajal Teresa, Grau Èlia, Dueñas Núria, de la Ossa Merlano Napoleón, Matías-Guiu Xavier, Rivera Bárbara, Balmaña Judith, Pineda Marta, Brunet Joan, Capellá Gabriel, Del Valle Jesús, Lázaro Con |
| Resting-state EEG theta activity reflects degree of genetic determination of the major epilepsy syndromes. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2021 7 132 (9): 2232-2239. Clemens Béla, Emri Miklós, Csaba Aranyi Sándor, Fekete István, Fekete Klá |
| Heterozygous APC germline mutations impart predisposition to colorectal cancer. Scientific reports 2021 Mar 11 (1): 5113. Preisler Livia, Habib Aline, Shapira Guy, Kuznitsov-Yanovsky Liron, Mayshar Yoav, Carmel-Gross Ilana, Malcov Mira, Azem Foad, Shomron Noam, Kariv Revital, Hershkovitz Dov, Ben-Yosef Dal |
| NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021. Journal of the National Comprehensive Cancer Network : JNCCN 2021 10 19 (10): 1122-1132. Weiss Jennifer M, Gupta Samir, Burke Carol A, Axell Lisen, Chen Lee-May, Chung Daniel C, Clayback Katherine M, Dallas Susan, Felder Seth, Gbolahan Olumide, Giardiello Francis M, Grady William, Hall Michael J, Hampel Heather, Hodan Rachel, Idos Gregory, Kanth Priyanka, Katona Bryson, Lamps Laura, Llor Xavier, Lynch Patrick M, Markowitz Arnold J, Pirzadeh-Miller Sara, Samadder Niloy Jewel, Shibata David, Swanson Benjamin J, Szymaniak Brittany M, Wiesner Georgia L, Wolf Andrew, Yurgelun Matthew B, Zakhour Mae, Darlow Susan D, Dwyer Mary A, Campbell Mallo |
| Identification of Germline Mutations in Genes Involved in Classic FAP in Patients from Northern Brazil. Cancer diagnosis & prognosis 2022 5 2 (3): 405-410. DI Felipe Ávila Alcantara Diego, Lima Júnior Sergio Figueiredo, DE Assumpção Paulo Pimentel, Lamarão Leticia Martins, DE Castro Sant'anna Carla, Moreira-Nunes Caroline Aquino, Burbano Rommel Rodrigu |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients. Cancer genetics 2022 2 262-263 95-101. Lee Jong Kwon, Kwon Won Kyung, Hong Sung Noh, Chang Dong Kyung, Kim Hee Cheol, Jang Ja-Hyun, Kim Jong-W |
| Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report. Molecular biology reports 2022 2 49 (5): 3823-3837. Khider Feriel, Cherbal Farid, Boumehdi Asma-Lamia, Layaida Karim, Mahfouf Hassen, Zebboudj Ferhat, Maaoui Mustap |
| A novel APC mutation associated with Gardner syndrome in a Chinese family. Gene 2023 12 896 148051. Ming Zeng, Xinchen Yao, Yuhua Pan, Hongxiang Gu, Fu Xiong, Xuemin Yin, Buling Wu, Ting Ch |
| Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2024 7 e32999. Polina Perlman Danieli, Ny Hoang, Thanuja Selvanayagam, Alvin Yang, Elemi Breetvelt, Merit Tabbers, Christine Cohen, Arthur S Aelvoet, Brett Trost, Thomas Ward, Kara Semotiuk, Carol Durno, Melyssa Aronson, Zane Cohen, Evelien Dekker, Jacob Vorstm |
| Prevalence of the major thyroid cancer-associated syndromes in the United States. medRxiv : the preprint server for health sciences 2024 12 . Samantha L White, Taylor Jamil, Caitlin Bell, Lauren Fishbein, Bryan R Haugen, Christopher R Gignoux, Nikita Pozdey |
- Page last reviewed:Feb 1, 2024
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