Search Results - "Neffa F"

Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.

Authors: Mathó C Chávez S Fort RS et al.

Source: Frontiers in oncology [Front Oncol] 2025 Aug 01; Vol. 15, pp. 1589765. Date of Electronic Publication: 2025 Aug 01 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

Authors: Zeuzem N Quilan M Dominguez-Valentin M et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar 18. Date of Electronic Publication: 2026 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.

Authors: Esperon P Neffa F Pavicic W et al.

Source: Familial cancer [Fam Cancer] 2024 Nov; Vol. 23 (4), pp. 507-513. Date of Electronic Publication: 2024 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Presence of intracellular bacterial communities in uroepithelial cells, a potential reservoir in symptomatic and non-symptomatic people.

Authors: Robino L Sauto R Morales C et al.

Source: BMC infectious diseases [BMC Infect Dis] 2024 Jun 17; Vol. 24 (1), pp. 590. Date of Electronic Publication: 2024 Jun 17.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968551 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2334 (Electronic) Linking ISSN: 14712334 NLM ISO Abbreviation: BMC Infect Dis Subsets: MEDLINE

Urogenital microbiome, intracellular bacterial communities, and their contribution to urinary tract infections.

Authors: Robino L Navarro N Canales-Huerta N et al.

Source: Microbiology spectrum [Microbiol Spectr] 2025 Nov 04; Vol. 13 (11), pp. e0124725. Date of Electronic Publication: 2025 Oct 07.

Publication Type: Journal Article

Journal Info: Publisher: ASM Press Country of Publication: United States NLM ID: 101634614 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2165-0497 (Electronic) Linking ISSN: 21650497 NLM ISO Abbreviation: Microbiol Spectr Subsets: MEDLINE

Characterization of Screening Strategies for Lynch Syndrome in Latin America.

Authors: Campos-Segura AV Alvarez K Murillo Carrasco AG et al.

Corporate Authors: Campos-Segura AV Alvarez K Murillo Carrasco AG et al.

Source: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association [Clin Gastroenterol Hepatol] 2025 Aug; Vol. 23 (9), pp. 1642-1654. Date of Electronic Publication: 2025 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders for the American Gastroenterological Association Country of Publication: United States NLM ID: 101160775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-7714 (Electronic) Linking ISSN: 15423565 NLM ISO Abbreviation: Clin Gastroenterol Hepatol Subsets: MEDLINE

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

Authors: Møller P Seppälä T Dowty JG et al.

Corporate Authors: Møller P Seppälä T Dowty JG et al.

Source: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2022 Oct 01; Vol. 20 (1), pp. 36. Date of Electronic Publication: 2022 Oct 01.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: Poland NLM ID: 101231179 Publication Model: Electronic Cited Medium: Print ISSN: 1731-2302 (Print) Linking ISSN: 17312302 NLM ISO Abbreviation: Hered Cancer Clin Pract Subsets: PubMed not MEDLINE

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.

Authors: Purdue MP Dutta D Machiela MJ et al.

Corporate Authors: Purdue MP Dutta D Machiela MJ et al.

Source: Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 809-818. Date of Electronic Publication: 2024 Apr 26.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

CYP2D6 genotyping and the clinical impact on outcomes in breast cancer tamoxifen-treated patients.

Authors: Ramírez G Vital M Vergara C et al.

Source: Personalized medicine [Per Med] 2023 Nov; Vol. 20 (6), pp. 477-483. Date of Electronic Publication: 2023 Nov 10.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101238549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-828X (Electronic) Linking ISSN: 17410541 NLM ISO Abbreviation: Per Med Subsets: MEDLINE

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.

Authors: Dominguez-Valentin M Haupt S Seppälä TT et al.

Source: EClinicalMedicine [EClinicalMedicine] 2023 Mar 20; Vol. 58, pp. 101909. Date of Electronic Publication: 2023 Mar 20 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: The Lancet Country of Publication: England NLM ID: 101733727 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5370 (Electronic) Linking ISSN: 25895370 NLM ISO Abbreviation: EClinicalMedicine Subsets: PubMed not MEDLINE

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Authors: Vaccaro CA López-Kostner F Adriana DV et al.

Corporate Authors: Vaccaro CA López-Kostner F Adriana DV et al.

Source: International journal of cancer [Int J Cancer] 2019 Jul 15; Vol. 145 (2), pp. 318-326. Date of Electronic Publication: 2018 Dec 05.

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer Subsets: MEDLINE

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Authors: Seppälä TT Ahadova A Dominguez-Valentin M et al.

Source: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2019 Feb 28; Vol. 17, pp. 8. Date of Electronic Publication: 2019 Feb 28 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: Poland NLM ID: 101231179 Publication Model: eCollection Cited Medium: Print ISSN: 1731-2302 (Print) Linking ISSN: 17312302 NLM ISO Abbreviation: Hered Cancer Clin Pract Subsets: PubMed not MEDLINE

Genetic and epigenetic characteristics of patients with colorectal cancer from Uruguay.

Authors: Vital M Carusso F Vergara C et al.

Source: Pathology, research and practice [Pathol Res Pract] 2023 Jan; Vol. 241, pp. 154264. Date of Electronic Publication: 2022 Dec 06.

Publication Type: Journal Article

Journal Info: Publisher: Gustav Fischer Verlag Country of Publication: Germany NLM ID: 7806109 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-0631 (Electronic) Linking ISSN: 03440338 NLM ISO Abbreviation: Pathol Res Pract Subsets: MEDLINE

Evaluation of MLH1 variants of unclear significance.

Authors: Köger N Paulsen L López-Kostner F et al.

Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2018 Jul; Vol. 57 (7), pp. 350-358. Date of Electronic Publication: 2018 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Authors: Rossi BM Palmero EI López-Kostner F et al.

Source: BMC cancer [BMC Cancer] 2017 Sep 05; Vol. 17 (1), pp. 623. Date of Electronic Publication: 2017 Sep 05.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407 (Electronic) Linking ISSN: 14712407 NLM ISO Abbreviation: BMC Cancer Subsets: MEDLINE

Lynch syndrome in South America: past, present and future.

Authors: Vaccaro CA Sarroca C Rossi B et al.

Source: Familial cancer [Fam Cancer] 2016 Jul; Vol. 15 (3), pp. 437-45.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

Authors: Dominguez-Valentin M Plazzer JP Sampson JR et al.

Source: Journal of clinical medicine [J Clin Med] 2021 Jun 28; Vol. 10 (13). Date of Electronic Publication: 2021 Jun 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Authors: Seppälä TT Dominguez-Valentin M Crosbie EJ et al.

Source: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2021 May; Vol. 148, pp. 124-133. Date of Electronic Publication: 2021 Mar 17.

Publication Type: Journal Article; Multicenter Study; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005373 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0852 (Electronic) Linking ISSN: 09598049 NLM ISO Abbreviation: Eur J Cancer Subsets: MEDLINE

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Authors: Dominguez-Valentin M Crosbie EJ Engel C et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 705-712. Date of Electronic Publication: 2020 Dec 01.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Authors: Dominguez-Valentin M Sampson JR Seppälä TT et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Sep; Vol. 22 (9), pp. 1569.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE