A. Polyakov

发表

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

W. Robberecht, R. Liem, O. Evgrafov, 2004, Nature Genetics.

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

M. van der Burg, J. V. van Dongen, L. Notarangelo, 2009, Molecular immunology.

A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome.

A. Polyakov, V. Peterkova, I. Dedov, 2005, The Journal of clinical endocrinology and metabolism.

Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy

A. Polyakov, S. Kutsev, A. Voronkova, 2022, International journal of molecular sciences.

Genetic and Clinical Spectrum of GNE Myopathy in Russia

I. Kanivets, S. Nikitin, E. Dadali, 2022, Genes.

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

A. Polyakov, O. Ryzhkova, A. Stepanova, 2022, International journal of molecular sciences.

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

O. Evgrafov, A. Polyakov, V. Peterkova, 2006, Hormones.

GH-1 gene splicing mutations: Molecular basis of hereditary isolated growth hormone deficiency in children

O. Evgrafov, A. Polyakov, V. Peterkova, 2006, Bulletin of Experimental Biology and Medicine.

A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.

O. Evgrafov, A. Polyakov, V. Peterkova, 2003, The Journal of clinical endocrinology and metabolism.

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

O. Evgrafov, V. Timmerman, Vladimir Ivanov, 2001, European Journal of Human Genetics.

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

E. Dadali, A. Polyakov, O. Ryzhkova, 2021, Genes.

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

G. Tavartkiladze, A. Polyakov, O. Ryzhkova, 2022, Journal of personalized medicine.

DNA copy number analysis of the DFNB1 hereditary hearing loss locus

I. Kanivets, A. Polyakov, A. Polyakov, 2017, Russian Journal of Genetics.

Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

A. Polyakov, I. Asherova, A. Voronkova, 2022, Current issues in molecular biology.

Running Large deletions in APC gene in Russian patients with FAP Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis

A. Polyakov, S. Frolov, Y. D., 2020 .

New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance

A. Polyakov, O. Makienko, E. G. Okuneva, 2014, Russian Journal of Genetics.

On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe.

O. Evgrafov, A. Polyakov, E. Ginter, 2001, European journal of human genetics : EJHG.

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

A. Filatova, A. Polyakov, B. Karadag, 2023, International journal of molecular sciences.

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

I. Kanivets, F. Konovalov, A. Polyakov, 2020, Journal of Autism and Developmental Disorders.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

E. Nikolaeva, A. Polyakov, M. Kurnikova, 2021, F1000Research.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: awaiting peer review]

E. Nikolaeva, A. Polyakov, M. Kurnikova, 2021 .