Konovalov FA - Search Results

1

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

Petrova NV, Marakhonov AV, Balinova NV, Abrukova AV, Konovalov FA, Kutsev SI, Zinchenko RA. Petrova NV, et al. Among authors: konovalov fa. Genes (Basel). 2021 May 27;12(6):820. doi: 10.3390/genes12060820. Genes (Basel). 2021. PMID: 34071867 Free PMC article.

2

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

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA. Zernov NV, et al. Among authors: konovalov fa. J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20. J Invest Dermatol. 2016. PMID: 26902920 Free article.

3

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

Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: konovalov fa. BMC Med Genomics. 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1. BMC Med Genomics. 2018. PMID: 29504900 Free PMC article.

4

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. Among authors: konovalov fa. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

5

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

Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Marakhonov AV, et al. Among authors: konovalov fa. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. Orphanet J Rare Dis. 2020. PMID: 32791987 Free PMC article.

6

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Marakhonov AV, et al. Among authors: konovalov fa. Clin Genet. 2021 May;99(5):673-683. doi: 10.1111/cge.13926. Epub 2021 Jan 27. Clin Genet. 2021. PMID: 33463715 Free PMC article.

7

Complex Transposon Insertion as a Novel Cause of Pompe Disease.

Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.

8

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.

Sharova M, Skoblov M, Dadali E, Demina N, Shchagina O, Konovalov F, Ampleeva M, Sharkova I, Kutsev S. Sharova M, et al. Front Neurol. 2022 Nov 8;13:1008937. doi: 10.3389/fneur.2022.1008937. eCollection 2022. Front Neurol. 2022. PMID: 36425804 Free PMC article.

9

[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene].

Anisimova IV, Dadali EL, Konovalov FA, Akimova IA. Anisimova IV, et al. Among authors: konovalov fa. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(4):70-75. doi: 10.17116/jnevro20181184170-75. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 29863696 Russian.

10

[Ataxia-telangiectasia with rare phenotype and unusual pedigree].

Rudenskaya GE, Shchagina OA, Ampleeva MA, Konovalov FA. Rudenskaya GE, et al. Among authors: konovalov fa. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(6):101-106. doi: 10.17116/jnevro2019119061101. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31407689 Russian.

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