List of works - Rena Zinchenko

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

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

scientific article published on 15 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 Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

scientific article published on 27 September 2020

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy.

scientific article published on 08 July 2017

Clouston syndrome: first case in Russia.

scientific article published on June 2012

Diagnostic capabilities of optical coherence tomography and confocal laser scanning microscopy in studying manifestations of aniridia-associated keratopathy

scientific article published in January 2017

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

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

scientific article

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

scientific article published in 2023

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

scientific article published on 01 May 2016

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

scientific article

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

scientific article

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

scientific article published in August 2018

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

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

Total hypotrichosis: genetic form of alopecia not linked to hairless gene

scientific article published in The Lancet

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

scientific article published on 24 May 2016

[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

scientific article published in July 2013

[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 Rena Zinchenko

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

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

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

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

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy.

Clouston syndrome: first case in Russia.

Diagnostic capabilities of optical coherence tomography and confocal laser scanning microscopy in studying manifestations of aniridia-associated keratopathy

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

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

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

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

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

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

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

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

Total hypotrichosis: genetic form of alopecia not linked to hairless gene

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

[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