Detalhe da pesquisa
1.
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Hum Mutat
; 41(1): 81-102, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553106
2.
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the ß-globin chain.
Eur J Haematol
; 100(6): 529-535, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29319890
3.
The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.
Hemoglobin
; 42(5-6): 310-314, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558442
4.
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Endocrine
; 80(1): 47-53, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547798
5.
The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
Mol Cell Endocrinol
; 572: 111948, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164149
6.
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Clin Endocrinol (Oxf)
; 76(4): 568-76, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981063
7.
Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.
Mol Cell Endocrinol
; 558: 111748, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35995307
8.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Endocrine
; 77(1): 86-101, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507000
9.
Structure and genetic variants of thyroglobulin: Pathophysiological implications.
Mol Cell Endocrinol
; 528: 111227, 2021 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33689781
10.
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.
Mol Cell Endocrinol
; 534: 111359, 2021 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34119605
11.
Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.
JCI Insight
; 6(11)2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914707
12.
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.
Mol Cell Endocrinol
; 522: 111124, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33321114
13.
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Clin Endocrinol (Oxf)
; 72(1): 112-21, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19438905
14.
Defects in protein folding in congenital hypothyroidism.
Mol Cell Endocrinol
; 501: 110638, 2020 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31751626
15.
p.L571P in the linker domain of rat thyroglobulin causes intracellular retention.
Mol Cell Endocrinol
; 505: 110719, 2020 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31972331
16.
Control of dendritic cell maturation and function by triiodothyronine.
FASEB J
; 22(4): 1032-42, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17991732
17.
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Mol Cell Probes
; 23(3-4): 148-53, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19268523
18.
The role of thyroglobulin in thyroid hormonogenesis.
Nat Rev Endocrinol
; 15(6): 323-338, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30886364
19.
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
Clin Endocrinol (Oxf)
; 68(5): 828-35, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17980011
20.
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
Thyroid
; 18(7): 783-6, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18631008