Detalhe da pesquisa
1.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
2.
Expanding the clinical and molecular spectrum of FOXG1- and ZBTB18-associated neurodevelopmental disorders.
Cytogenet Genome Res
; 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056433
3.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
4.
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
J Hum Genet
; 64(11): 1133-1136, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481716
5.
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Am J Med Genet A
; 179(2): 290-294, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569622
6.
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
Gastroenterology
; 152(5): 983-986.e6, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024868
7.
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
J Med Genet
; 52(7): 498-502, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908759
8.
Risk of cancer in cases of suspected lynch syndrome without germline mutation.
Gastroenterology
; 144(5): 926-932.e1; quiz e13-4, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23354017
9.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
10.
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
Carcinogenesis
; 34(2): 314-8, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161572
11.
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
BMC Genomics
; 14: 55, 2013 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350875
12.
Vaginal tubulovillous adenoma: a clinicopathologic and molecular study with review of the literature.
Int J Gynecol Pathol
; 32(1): 131-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23202776
13.
Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience.
Mutagenesis
; 27(2): 153-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294762
14.
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Eur J Hum Genet
; 30(8): 938-945, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322241
15.
[Work responsibilities. Critical care unit]. / Unidad de cuidados críticos. Cargas de trabajo.
Rev Enferm
; 29(11): 19-26, 2006 Nov.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17201335
16.
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
Eur J Hum Genet
; 24(10): 1501-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27165003
17.
Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.
PLoS One
; 5(9)2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20844743
18.
Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study.
Cancer Epidemiol Biomarkers Prev
; 19(2): 619-23, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20142256