Literature DB >> 27720914

Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.

Sami Belhadj1, Pilar Mur1, Matilde Navarro1, Sara González1, Victor Moreno2, Gabriel Capellá1, Laura Valle3.   

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Year:  2016        PMID： 27720914     DOI： 10.1016/j.cgh.2016.09.153

Source DB:  PubMed          Journal:  Clin Gastroenterol Hepatol        ISSN： 1542-3565            Impact factor:   11.382


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  13 in total

1.  NTHL1-associate polyposis: first Australian case report.

Authors:  Alexandra Groves; Margaret Gleeson; Allan D Spigelman
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

Review 2.  Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.

Authors:  S H Beck; A M Jelsig; H M Yassin; L J Lindberg; K A W Wadt; J G Karstensen
Journal:  Fam Cancer       Date:  2022-03-16       Impact factor: 2.375

Review 3.  How many is too many? Polyposis syndromes and what to do next.

Authors:  Nina Gupta; Christine Drogan; Sonia S Kupfer
Journal:  Curr Opin Gastroenterol       Date:  2022-01-01       Impact factor: 3.287

4.  NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Authors:  Sami Belhadj; Isabel Quintana; Pilar Mur; Pau M Munoz-Torres; M Henar Alonso; Matilde Navarro; Mariona Terradas; Virginia Piñol; Joan Brunet; Victor Moreno; Conxi Lázaro; Gabriel Capellá; Laura Valle
Journal:  Sci Rep       Date:  2019-06-21       Impact factor: 4.379

5.  Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Authors:  Víctor Lorca; Daniel Rueda; Lorena Martín-Morales; María Jesús Fernández-Aceñero; Judith Grolleman; Carmen Poves; Patricia Llovet; Sandra Tapial; Vanesa García-Barberán; Julián Sanz; Pedro Pérez-Segura; Richarda M de Voer; Eduardo Díaz-Rubio; Miguel de la Hoya; Trinidad Caldés; Pilar Garre
Journal:  Sci Rep       Date:  2019-07-08       Impact factor: 4.379

6.  Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.

Authors:  Vincent Larouche; Amit Akirov; Emily Thain; Raymond H Kim; Shereen Ezzat
Journal:  Endocrinol Diabetes Metab       Date:  2019-09-08

7.  A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis.

Authors:  Mays Altaraihi; Anne-Marie Gerdes; Karin Wadt
Journal:  Hum Genome Var       Date:  2019-10-10

8.  Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.

Authors:  Erin E Salo-Mullen; Anna Maio; Semanti Mukherjee; Chaitanya Bandlamudi; Jinru Shia; Yelena Kemel; Karen A Cadoo; Ying Liu; Maria Carlo; Megha Ranganathan; Sarah Kane; Preethi Srinivasan; Shweta S Chavan; Mark T A Donoghue; Caitlin Bourque; Margaret Sheehan; Prince Rainier Tejada; Zalak Patel; Angela G Arnold; Jennifer A Kennedy; Kimberly Amoroso; Kelsey Breen; Amanda Catchings; Rosalba Sacca; Vanessa Marcell; Arnold J Markowitz; Alicia Latham; Michael Walsh; Maksym Misyura; Ozge Ceyhan-Birsoy; David B Solit; Michael F Berger; Mark E Robson; Barry S Taylor; Kenneth Offit; Diana Mandelker; Zsofia K Stadler
Journal:  JCO Precis Oncol       Date:  2021-02-26

Review 9.  Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?

Authors:  Davide Angeli; Samanta Salvi; Gianluca Tedaldi
Journal:  Int J Mol Sci       Date:  2020-02-08       Impact factor: 5.923

Review 10.  Current status of the genetic susceptibility in attenuated adenomatous polyposis.

Authors:  Víctor Lorca; Pilar Garre
Journal:  World J Gastrointest Oncol       Date:  2019-12-15
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