Detalhe da pesquisa
1.
Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer.
Genes Chromosomes Cancer
; 62(6): 332-341, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790221
2.
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.
Int J Cancer
; 151(6): 957-966, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467766
3.
Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer.
Int J Cancer
; 149(9): 1713-1722, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270794
4.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561787
5.
PTPA variants and the risk for Parkinson's disease in diverse ancestry populations.
Brain
; 146(12): e120-e124, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467482
6.
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
Int J Cancer
; 142(3): 540-546, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960316
7.
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
Hum Mol Genet
; 25(11): 2349-2359, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005424
8.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 137(1): 105-109, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29288388
9.
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Am J Hum Genet
; 96(1): 147-52, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25500261
10.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
11.
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.
Int J Cancer
; 140(12): 2701-2708, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340513
12.
Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 136(11-12): 1419-1429, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940097
13.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Proc Natl Acad Sci U S A
; 111(50): 17953-8, 2014 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25472840
14.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
J Allergy Clin Immunol
; 137(6): 1780-1787, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915675
15.
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer.
Br J Cancer
; 115(2): 266-72, 2016 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27336604
16.
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Genet Med
; 18(12): 1244-1249, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124789
17.
A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.
Hum Genomics
; 7: 25, 2013 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330461
18.
DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.
Biol Res
; 46(2): 161-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23959014
19.
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
Nat Genet
; 30(2): 227-32, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11818965
20.
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Hum Mutat
; 33(2): 351-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065524