Detalhe da pesquisa
1.
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Int J Mol Sci
; 23(3)2022 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35163085
2.
Mutants and molecular dockings reveal that the primary L-thyroxine binding site in human serum albumin is not the one which can cause familial dysalbuminemic hyperthyroxinemia.
Biochim Biophys Acta
; 1860(4): 648-60, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26777880
3.
Human serum albumin isoforms: genetic and molecular aspects and functional consequences.
Biochim Biophys Acta
; 1830(12): 5405-17, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23558059
4.
Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.
Biochim Biophys Acta
; 1830(12): 5494-502, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23612153
5.
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
Eur J Clin Invest
; 43(1): 72-8, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23176518
6.
A novel splicing mutation causes analbuminemia in a Portuguese boy.
Mol Genet Metab
; 105(3): 479-83, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22227324
7.
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene.
Int J Mol Sci
; 12(11): 7314-22, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22174600
8.
Research update for articles published in EJCI in 2013.
Eur J Clin Invest
; 45(10): 1005-16, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26394055
9.
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia.
Case Rep Endocrinol
; 2020: 8452564, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32181025
10.
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report.
World J Clin Cases
; 7(4): 466-472, 2019 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30842957
11.
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.
Front Genet
; 10: 336, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31057599
12.
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
Eur J Med Genet
; 62(2): 144-148, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-29981851
13.
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Hum Mutat
; 29(8): 1007-16, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18459107
14.
Analbuminemia Zonguldak: case report and mutational analysis.
Clin Biochem
; 41(4-5): 288-91, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18154732
15.
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
Clin Chim Acta
; 396(1-2): 89-92, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18602380
16.
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia.
Clin Chem Lab Med
; 50(12): 2221-3, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23093284
17.
Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.
Front Endocrinol (Lausanne)
; 8: 297, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29163366
18.
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis.
Clin Chim Acta
; 365(1-2): 188-93, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16183048
19.
A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.
Ann Clin Biochem
; 53(Pt 5): 615-9, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26543026
20.
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
Biochem Med (Zagreb)
; 26(2): 264-71, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27346974