Detalhe da pesquisa
1.
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Arterioscler Thromb Vasc Biol
; 42(7): e203-e216, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510551
2.
A case of Tn polyagglutination discovered by an ABO blood group discrepancy.
Transfusion
; 62(7): 1452-1456, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748659
3.
Two new RHD alleles with deletions spanning multiple exons.
Transfusion
; 61(3): 682-686, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33241598
4.
RH genotyping by nonspecific quantitative next-generation sequencing.
Transfusion
; 60(11): 2691-2701, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32871036
5.
A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.
Transfusion
; 63(6): E36-E37, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021677
6.
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
Hum Mutat
; 36(1): 129-41, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378237
7.
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Hum Mutat
; 33(1): 232-43, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990180
8.
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
Hum Mutat
; 32(8): 868-72, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538688
9.
New contributions to the study of common double mutants in the human LDL receptor gene.
Naturwissenschaften
; 98(11): 943-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21935675
10.
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
Eur J Med Genet
; 51(1): 74-80, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024240
11.
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
Eur J Hum Genet
; 15(8): 843-7, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17473832
12.
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.
Hum Mutat
; 27(11): 1143-50, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16952148
13.
Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis.
Biochim Biophys Acta
; 1734(3): 247-58, 2005 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15914083
14.
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.
J Clin Endocrinol Metab
; 101(5): 2113-21, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014949
15.
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Circ Cardiovasc Genet
; 9(6): 504-510, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784735
16.
A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.
J Mol Diagn
; 15(3): 362-72, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23537714
17.
Molecular characterization of familial hypercholesterolemia in Spain.
Atherosclerosis
; 221(1): 137-42, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22244043
18.
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
Eur J Med Genet
; 52(6): 446-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19733267
19.
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
Clin Biochem
; 42(9): 899-903, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19318025