Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 70 Records) |
| Query Trace: Disease and FAP[original query] |
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| Somatostatin analogues for refractory diarrhoea in familial amyloid polyneuropathy. PloS one 2018 8 13 (8): e0201869. Collins Michael, Pellat Anna, Antoni Guillemette, Agostini Hélène, Labeyrie Céline, Adams David, Carbonnel Fran |
| Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise". Orphanet journal of rare diseases 2018 10 13 (1): 177. Grandis Marina, Geroldi Alessandro, Gulli Rossella, Manganelli Fiore, Gotta Fabio, Lamp Merit, Origone Paola, Trevisan Lucia, Gemelli Chiara, Fabbri Sabrina, Schenone Angelo, Tozza Stefano, Santoro Lucio, Bellone Emilia, Mandich Pao |
| Synonymous mutation adenomatous polyposis coli?486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation-negative familial adenomatous polyposis. Molecular medicine reports 2018 Sep . Liu Wei Qing, Dong Jian, Peng Yan Xia, Li Wen Liang, Yang J |
| 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 |
| Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy. European journal of human genetics : EJHG 2019 9 28 (2): 222-230. Terlouw Diantha, Suerink Manon, Singh Sunny S, Gille Hans J J P, Hes Frederik J, Langers Alexandra M J, Morreau Hans, Vasen Hans F A, Vos Yvonne J, van Wezel Tom, Tops Carli M, Ten Broeke Sanne W, Nielsen Maart |
| APC mutational patterns in gastric adenocarcinoma are enriched for missense variants with associated decreased survival. Genes, chromosomes & cancer 2019 Jul . Rubinstein Jill C, Khan Sajid A, Christison-Lagay Emily R, Cha Charl |
| Whole Exome Sequencing Reveals a Novel Damaging Mutation in Human Fibroblast Activation Protein in a Family with Esophageal Squamous Cell Carcinoma. Journal of gastrointestinal cancer 2019 4 51 (1): 179-188. Golyan Fatemeh Fardi, Moghaddassian Morteza, Forghanifard Mohammad Mahdi, Talebi Samaneh, Farshchian Moein, Mahmoudian Reihaneh Alsadat, Abbaszadegan Mohammad Re |
| Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively. European journal of human genetics : EJHG 2019 Apr . von Holst Susanna, Jiao Xiang, Liu Wen, Kontham Vinaykumar, Thutkawkorapin Jessada, Ringdahl Jenny, Bryant Patrick, Lindblom Anni |
| IFN/STAT signaling controls tumorigenesis and the drug response in colorectal cancer. Cancer science 2019 2 110 (4): 1293-1305. Sakahara Mizuho, Okamoto Takuya, Oyanagi Jun, Takano Hiroshi, Natsume Yasuko, Yamanaka Hitomi, Kusama Daisuke, Fusejima Mishio, Tanaka Norio, Mori Seiich, Kawachi Hiroshi, Ueno Masashi, Sakai Yoshiharu, Noda Tetsuo, Nagayama Satoshi, Yao Ryo |
| 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 |
| The Broad Variability in Dental Age Observed among Childhood Survivors Is Cancer Specific. Cancer research and treatment 2020 8 53 (1): 252-260. Proc Patrycja, Szczepa?ska Joanna, Zubowska Ma?gorzata, Zalewska-Szewczyk Beata, M?ynarski Wojcie |
| Polymorphisms of CSF1R and WISP1 genes are associated with severity of familial adenomatous polyposis in APC pigs. Gene 2020 7 759 144988. Sikorska Agata, Stachowiak Monika, Flisikowska Tatiana, Stachecka Joanna, Flisikowski Krzysztof, Switonski Mar |
| Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study. Clinical oral investigations 2020 2 24 (10): 3501-3511. Almeida Fabiana Tolentino, Leite André Ferreira, de Souza Figueiredo Paulo Tadeu, Dos Santos Pollyanna Almeida Costa, Rosa Erica Carine Campos Caldas, Mazzeu Juliana Forte, Sousa João Batista, Pogue Robert, Acevedo Ana Carolina, Guerra Eliete Neves Sil |
| Altered Resting State Brain Networks and Cognition in Familial Adenomatous Polyposis. medRxiv : the preprint server for health sciences 2020 11 . Cali Ryan J, Nephew Benjamin C, Moore Constance M, Chumachenko Serhiy, Sala Ana Cecilia, Cintron Beatriz, Luciano Carlos, King Jean A, Hooper Stephen R, Giardiello Francis M, Cruz-Correa Marc |
| Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update. Balkan journal of medical genetics : BJMG 2020 1 22 (2): 5-16. Staninova-Stojovska M, Matevska-Geskovska N, Panovski M, Angelovska B, Mitrevski N, Ristevski M, Jovanovic R, Dimovski A |
| Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype. Canadian journal of gastroenterology & hepatology 2021 5 2021 6610434. Xie Li-Jun, Ruan Dan-Dan, Zhang Jian-Hui, Li Yi, Chen Li, Yan Mao-Lin, Yu Ming-Dian, Luo Jie-Wei, Zhang Hui-Zh |
| Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population. Orphanet journal of rare diseases 2021 5 16 (1): 174. Gao Feng-Juan, Wang Dan-Dan, Li Jian-Kang, Hu Fang-Yuan, Xu Ping, Chen Fang, Qi Yu-He, Liu Wei, Li Wei, Zhang Sheng-Hai, Chang Qing, Xu Ge-Zhi, Wu Ji-Ho |
| CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC. Hereditary cancer in clinical practice 2021 4 19 (1): 25. Connor T, McPhillips M, Hipwell M, Ziolkowski A, Oldmeadow C, Clapham M, Pockney P G, Lis E, Banasiewicz T, P?awski A, Scott R |
| Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer. Frontiers in oncology 2021 4 11 658389. Huang Wei, Bian Jin, Qian Xiaoping, Shao Lin, Li Haiyan, Zhang Lu, Wang L |
| 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 |
| Altered neural networks and cognition in a hereditary colon cancer. IBRO neuroscience reports 2021 10 11 137-143. Cali Ryan J, Nephew Benjamin C, Moore Constance M, Chumachenko Serhiy, Sala Ana Cecilia, Cintron Beatriz, Luciano Carlos, King Jean A, Hooper Stephen R, Giardiello Francis M, Cruz-Correa Marc |
| 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 |
| Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation. Frontiers in neurology 2023 2 14 1109782. Tozza Stefano, Luigetti Marco, Antonini Giovanni, Mazzeo Anna, Severi Daniele, Di Paolantonio Andrea, Leonardi Luca, Russo Massimo, Romano Angela, Forcina Francesca, Gentile Luca, Nolano Maria, Mattia Consalvo, Manganelli Fio |
| Serum IL-17 and TNF? as prognostic biomarkers in systemic sclerosis patients: a prospective study. Rheumatology international 2023 12 . Joanna Kosa?ka-W?giel, Sabina Licho?ai, Renata Pacholczak-Madej, Sylwia Dziedzina, Mamert Milewski, Piotr Kuszmiersz, Anna Korona, Jolanta G?sior, Aleksandra Matyja-Bednarczyk, Helena Kwiatkowska, Lech Zar?ba, And?elika Siwiec-Ko?lik, Pawe? Ko?lik-Siwiec, Anita Wach, Weronika Pociej-Marciak, Marek Sanak, Jacek Musia?, Stanis?awa Bazan-Socha, Mariusz Korko |
| 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 |
| Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study. Scientific reports 2024 8 14 (1): 18281. Marco Luigetti, Francesca Vitali, Angela Romano, Maria Ausilia Sciarrone, Valeria Guglielmino, Michelangelo Ardito, Andrea Sabino, Serenella Servidei, Geny Piro, Carmine Carbone, Francesca Graziani, Rosa Lillo, Pietro Manuel Ferraro, Guido Primia |
| Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement. Arquivos brasileiros de cardiologia 2024 5 121 (4): e20230216. Tonnison de Oliveira Silva, Eduardo Sahade Darzé, Marcela Machado Costa, Luiz José Junior, Antonio A B Ximenes, Fábio Fernandes, Mário de Seixas Rocha, Marcia M Noya-Rabelo, Luiz Eduardo Fonteles Ri |
| Cancer Risks in Attenuated and Classical Familial Adenomatous Polyposis: A Nationwide Cohort with Matched, Non-Exposed Individuals: Cancer and surgery in AFAP and FAP patients. The American journal of gastroenterology 2024 10 . Søren Hammershøj Beck, John Gásdal Karstensen, Steffen Bülow, Klaus Kaae Andersen, Thomas van Overeem Hansen, Helle Højen, Niels Jespersen, Tine Plato Kuhlmann, Hans Christian Pommergaard, Mads Damgaard Wewer, Laus Wullum, Anne Marie Jelsig, Johan Buris |
| GENETIC CHARACTERISTICS AND EXTRACOLONIC PHENOTYPIC MANIFESTATIONS IN PATIENTS WITH FAMILIAR ADENOMATOUS POLYPOSIS. Gastroenterologia y hepatologia 2024 10 502266. Víctor Argumánez, Vicente Lorenzo-Zúñiga, Marco Bustamante-Balén, Sonia García García, Isabel Terol Cháfer, Silvestre Oltra, Vicente Pons-Beltr |
- Page last reviewed:Feb 1, 2024
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