Maria E. Lopatkina

Kooperativny Str, 5
Tomsk, TOM, Russian Federation

Last Updated: 09/26/2026

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Found 20 publications

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

Journal: Molecular cytogenetics

Published: September 02, 2024

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Journal: Genome medicine

Published: May 04, 2024

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.

Journal: Molecular genetics & genomic medicine

Published: April 08, 2024

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Journal: Frontiers in genetics

Published: October 31, 2023

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.

Journal: Biomedicines

Published: November 05, 2022

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Journal: Stem cell research

Published: February 14, 2022

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Journal: Cytogenetic and genome research

Published: November 09, 2021

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Journal: Stem cell research

Published: September 09, 2021

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Journal: Biomedicines

Published: June 04, 2021

A cookbook for DNase Hi-C.

A cookbook for DNase Hi-C.

Journal: Epigenetics & chromatin

Published: November 01, 2020

Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.

Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.

Journal: Cytogenetic and genome research

Published: October 12, 2020

Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.

Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.

Journal: Stem cell research

Published: September 25, 2020

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Last Updated: 09/26/2026