Detalhe da pesquisa
1.
Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Arch Biochem Biophys
; 715: 109086, 2022 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34801473
2.
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat.
Reprod Fertil Dev
; 34(16): 1034-1042, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36116785
3.
An update on genetic variants of the NKX2-5.
Hum Mutat
; 41(7): 1187-1208, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32369864
4.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29373757
5.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Clin Endocrinol (Oxf)
; 93(1): 19-27, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32289882
6.
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Mol Biol Rep
; 47(9): 6863-6878, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32920771
7.
Frataxin Structure and Function.
Subcell Biochem
; 93: 393-438, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31939159
8.
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.
Cytogenet Genome Res
; 159(3): 137-142, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31786569
9.
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Hum Mutat
; 39(1): 5-22, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29035424
10.
Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat.
Reproduction
; 145(4): 335-43, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23401597
11.
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Genes (Basel)
; 13(7)2022 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35885957
12.
Genetics and genomic medicine in Argentina.
Mol Genet Genomic Med
; 7(4): e00571, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30724040
13.
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel)
; 9(9)2018 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30208644
14.
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
Medicina (B Aires)
; 67(3): 253-61, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17628913
15.
Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment.
Front Endocrinol (Lausanne)
; 13: 995151, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36105391
16.
Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
Genes (Basel)
; 8(8)2017 Aug 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28812997
17.
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Sci Rep
; 6: 39082, 2016 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-27966633
18.
Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas / Analysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects
Rev. argent. salud publica
; 13: 1-8, 5/02/2021.
Artigo
Espanhol
| LILACS, ARGMSAL, BINACIS | ID: biblio-1147271
19.
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Clin Dysmorphol
; 29(1): 42-45, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30921092
20.
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Endocrine
; 50(1): 72-8, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26184415