List of works - Andrey Marakhonov

A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

scientific article published on 15 January 2015

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

scientific article published on 18 September 2020

ASSA: Fast identification of statistically significant interactions between long RNAs

scientific article published on 29 January 2018

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

scientific article published on 15 May 2020

Analysis of discordant Affymetrix probesets casts serious doubt on idea of microarray data reutilization

scientific article

Analysis of genotype-phenotype correlations in PAX6-associated aniridia

scientific article published on 28 May 2020

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

scientific journal article

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

scientific article published in 2023

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

scientific article published on 27 September 2020

Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

scientific article published in 2021

Clouston syndrome: first case in Russia.

scientific article published on June 2012

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation

scientific article published on 12 December 2018

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

scientific article published on 03 January 2020

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

scientific article published on 13 August 2020

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

article

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

scientific article published in 2021

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

scientific article published in 2023

Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia

scientific article published on December 2010

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

scientific article published on 01 October 2019

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

scientific article

Morphometric analysis of the lens in human aniridia and mouse Small eye

scientific article published on 25 November 2020

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect

scientific article published on 03 April 2019

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

scientific article published on 17 July 2020

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

scientific article published on 22 October 2020

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

scientific article published on 13 February 2018

Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region

scientific article

Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.

scientific article

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

scientific article published on 09 June 2018

[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene]

scientific article published on 01 January 2020

List of works by Andrey Marakhonov

A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

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

ASSA: Fast identification of statistically significant interactions between long RNAs

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

Analysis of discordant Affymetrix probesets casts serious doubt on idea of microarray data reutilization

Analysis of genotype-phenotype correlations in PAX6-associated aniridia

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

Clouston syndrome: first case in Russia.

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

Genetic Variant c.245A&gt;G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia

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

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

Morphometric analysis of the lens in human aniridia and mouse Small eye

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect

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

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region

Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene]

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population