Natella V. Sukhanova

Moskvorechie Street, 1
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 10 publications

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Journal: International journal of molecular sciences

Published: September 09, 2024

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).

Journal: Current issues in molecular biology

Published: November 22, 2023

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Journal: International journal of molecular sciences

Published: October 30, 2023

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

Journal: International journal of molecular sciences

Published: September 27, 2023

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Journal: Genes

Published: September 14, 2023

Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia.

Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia.

Journal: Human mutation

Published: January 25, 2021

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

Journal: BMC medical genomics

Published: July 30, 2020

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.

Journal: Genes

Published: June 16, 2020

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

Journal: Human molecular genetics

Published: May 03, 2019

Analysis of genotype-phenotype correlations in PAX6-associated aniridia.

Analysis of genotype-phenotype correlations in PAX6-associated aniridia.

Journal: Journal of medical genetics

Published: March 25, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026