Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and NTHL1[original query] |
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. American journal of human genetics 2016 Aug 99 (2): 337-51. Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stef |
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 |
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? The Journal of pathology 2017 11 244 (2): 135-142. Weren Robbert DA, Ligtenberg Marjolijn Jl, Geurts van Kessel Ad, De Voer Richarda M, Hoogerbrugge Nicoline, Kuiper Roland |
Novel candidates in early-onset familial colorectal cancer. Familial cancer 2019 9 19 (1): 1-10. Jansen Anne M L, Ghosh Pradipta, Dakal Tikam C, Slavin Thomas P, Boland C Richard, Goel Aj |
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. Scientific reports 2019 7 9 (1): 9814. Lorca Víctor, Rueda Daniel, Martín-Morales Lorena, Fernández-Aceñero María Jesús, Grolleman Judith, Poves Carmen, Llovet Patricia, Tapial Sandra, García-Barberán Vanesa, Sanz Julián, Pérez-Segura Pedro, de Voer Richarda M, Díaz-Rubio Eduardo, de la Hoya Miguel, Caldés Trinidad, Garre Pil |
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. Scientific reports 2019 6 9 (1): 9020. Belhadj Sami, Quintana Isabel, Mur Pilar, Munoz-Torres Pau M, Alonso M Henar, Navarro Matilde, Terradas Mariona, Piñol Virginia, Brunet Joan, Moreno Victor, Lázaro Conxi, Capellá Gabriel, Valle Lau |
Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition. Molecular genetics & genomic medicine 2020 Sep e1493. Kumpula Timo, Tervasmäki Anna, Mantere Tuomo, Koivuluoma Susanna, Huilaja Laura, Tasanen Kaisa, Winqvist Robert, de Voer Richarda M, Pylkäs Kat |
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. NPJ breast cancer 2021 May 7 (1): 52. Li Na, Zethoven Magnus, McInerny Simone, Devereux Lisa, Huang Yu-Kuan, Thio Niko, Cheasley Dane, Gutiérrez-Enríquez Sara, Moles-Fernández Alejandro, Diez Orland, Nguyen-Dumont Tu, Southey Melissa C, Hopper John L, Simard Jacques, Dumont Martine, Soucy Penny, Meindl Alfons, Schmutzler Rita, Schmidt Marjanka K, Adank Muriel A, Andrulis Irene L, Hahnen Eric, Engel Christoph, Lesueur Fabienne, Girard Elodie, Neuhausen Susan L, Ziv Elad, Allen Jamie, Easton Douglas F, Scott Rodney J, Gorringe Kylie L, James Paul A, Campbell Ian |
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer. Cancers 2021 10 13 (20): . Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari |
Second Case of Tumors Associated With Heterozygous NTHL1 Variant. Cureus 2022 8 14 (7): e26734. Anderson Danyon J, Reinicke Trenton, Boyle Andrew W, Porwal Mokshal H, Friedman Allan |
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 |
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review. Familial cancer 2022 3 21 (4): 453-462. Beck S H, Jelsig A M, Yassin H M, Lindberg L J, Wadt K A W, Karstensen J |
MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes. European journal of human genetics : EJHG 2023 7 . Mariona Terradas, Noemi Gonzalez-Abuin, Sandra García-Mulero, Julen Viana-Errasti, Gemma Aiza, Josep M Piulats, Joan Brunet, Gabriel Capellá, Laura Val |
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients. Genes, chromosomes & cancer 2023 10 . D Terlouw, A Boot, Q R Ducarmon, S Nooij, M A Jessurun, M E van Leerdam, C M Tops, A M J Langers, H Morreau, T van Wezel, M Niels |
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- Page last updated:Apr 16, 2024
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