Detalhe da pesquisa
1.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
J Clin Immunol
; 44(4): 93, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578360
2.
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731816
3.
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
Curr Issues Mol Biol
; 46(1): 96-105, 2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248310
4.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
5.
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Int J Mol Sci
; 24(21)2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958513
6.
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
Int J Mol Sci
; 24(22)2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003421
7.
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report.
Int J Mol Sci
; 24(5)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901946
8.
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Int J Mol Sci
; 24(23)2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069245
9.
Antipsychotics Affect Satellite III (1q12) Copy Number Variations in the Cultured Human Skin Fibroblasts.
Int J Mol Sci
; 24(14)2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511043
10.
Therapeutic Efficiency of Proteins Secreted by Glial Progenitor Cells in a Rat Model of Traumatic Brain Injury.
Int J Mol Sci
; 24(15)2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569717
11.
Epigenomic Profiling Advises Therapeutic Potential of Leukotriene Receptor Inhibitors for a Subset of Triple-Negative Breast Tumors.
Int J Mol Sci
; 24(24)2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139172
12.
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
BMC Genomics
; 23(1): 252, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365085
13.
Analysis of genotype-phenotype correlations in PAX6-associated aniridia.
J Med Genet
; 58(4): 270-274, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467297
14.
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Int J Mol Sci
; 23(12)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743132
15.
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Int J Mol Sci
; 23(20)2022 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292982
16.
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.
Hum Mol Genet
; 28(19): 3323-3326, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31304537
17.
Effect of Low-Dose Ionizing Radiation on the Expression of Mitochondria-Related Genes in Human Mesenchymal Stem Cells.
Int J Mol Sci
; 23(1)2021 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008689
18.
The Phosphonate Derivative of C60 Fullerene Induces Differentiation towards the Myogenic Lineage in Human Adipose-Derived Mesenchymal Stem Cells.
Int J Mol Sci
; 22(17)2021 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502190
19.
Oxidized cell-free DNA as a stress-signaling factor activating the chronic inflammatory process in patients with autism spectrum disorders.
J Neuroinflammation
; 17(1): 212, 2020 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677958
20.
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
BMC Med Genet
; 21(Suppl 1): 156, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092543