Search details
1.
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
J Med Genet
; 59(1): 75-78, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33219106
2.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906215
3.
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
J Med Genet
; 56(8): 521-525, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30580288
4.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Br J Cancer
; 119(8): 978-987, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30283143
5.
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Breast Cancer Res Treat
; 155(2): 253-60, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26780556
6.
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Hum Mutat
; 35(3): 271-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24227591
7.
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Breast Cancer Res Treat
; 130(1): 341-4, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21761158
8.
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.
Gut
; 64(2): 355-6, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-24691292
9.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Genes (Basel)
; 12(2)2021 01 23.
Article
in English
| MEDLINE | ID: mdl-33498765
10.
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Cancers (Basel)
; 12(4)2020 Mar 30.
Article
in English
| MEDLINE | ID: mdl-32235514
11.
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Cancers (Basel)
; 12(7)2020 Jul 05.
Article
in English
| MEDLINE | ID: mdl-32635641
12.
Mosaicism in PTEN-new case and comment on the literature.
Eur J Hum Genet
; 30(6): 641-644, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35102303
13.
Using Google Translate
Technol Health Care
; 24(6): 965-968, 2016 Nov 14.
Article
in English
| MEDLINE | ID: mdl-27447408
14.
Frecuencia y severidad de los síntomas en pacientes con Fibromialgia y Migraña / Frequency and severity of symptoms in patients with Fibromyalgia and Migraine
Rev. argent. reumatolg. (En línea)
; 32(2): 22-25, jun. 2021. tab
Article
in Spanish
| LILACS, BINACIS | ID: biblio-1365488
15.
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.
Cancer Genet Cytogenet
; 158(1): 70-4, 2005 Apr 01.
Article
in English
| MEDLINE | ID: mdl-15771908
16.
Medical therapy using omeprazole in 12 hydrocephalic dogs: clinical, diagnostic, and therapeutic findings / Terapia médica utilizando omeprazol em 12 cães hidrocefálicos: achados clínicos, diagnósticos e terapêuticos
Pesqui. vet. bras
; 39(10): 823-829, Oct. 2019. tab
Article
in English
| VETINDEX, LILACS | ID: biblio-1056905
17.
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Eur J Cancer
; 50(13): 2241-50, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24953332
18.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Eur J Hum Genet
; 21(8): 864-70, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23249957
19.
MLH1 methylation screening is effective in identifying epimutation carriers.
Eur J Hum Genet
; 20(12): 1256-64, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22763379
20.
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments.
Clin Chem
; 54(7): 1132-40, 2008 Jul.
Article
in English
| MEDLINE | ID: mdl-18487285
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