Konovalov FA - Search Results

1

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.

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

[BRAF-positive paucicellular variant of anaplastic carcinoma in the presence of tall cell variant papillary thyroid cancer].

Dolzhansky OV, Paltseva EM, Khmelkova DN, Konovalov FA, Kanivets IV, Lavrov AV, Pyankov DV, Korostelev SA, Levendyuk OA, Pominalnaya VM, Fedorov DN. Dolzhansky OV, et al. Among authors: konovalov fa. Arkh Patol. 2017;79(3):27-33. doi: 10.17116/patol201779327-33. Arkh Patol. 2017. PMID: 28631713 Russian.

4

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.

5

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Lozier ER, Konovalov FA, Kanivets IV, Pyankov DV, Koshkin PA, Baleva LS, Sipyagina AE, Yakusheva EN, Kuchina AE, Korostelev SA. Lozier ER, et al. Among authors: konovalov fa. J Hum Genet. 2018 Jul;63(8):919-922. doi: 10.1038/s10038-018-0464-5. Epub 2018 May 14. J Hum Genet. 2018. PMID: 29760529

6

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Filatova A, Freire V, Lozier E, Konovalov F, Bessonova L, Iudina E, Gnetetskaya V, Kanivets I, Korostelev S, Skoblov M. Filatova A, et al. Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28. Clin Genet. 2019. PMID: 30485398 Free article. No abstract available.

7

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.

8

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.

Viakhireva I, Musatova E, Bessonova L, Shcherbatyuk Y, Korobkov S, Zhikriveckaya S, Sofronova Y, Mironova I, Khmelkova D, Konovalov F, Baranova A, Pomerantseva E, Skoblov M. Viakhireva I, et al. Fam Cancer. 2020 Jul;19(3):241-246. doi: 10.1007/s10689-020-00165-6. Epub 2020 Feb 12. Fam Cancer. 2020. PMID: 32052252

9

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.

10

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

Beskorovainaya T, Konovalov F, Demina N, Shchagina O, Pashchenko M, Kanivets I, Pyankov D, Ryzhkova O, Polyakov A. Beskorovainaya T, et al. J Autism Dev Disord. 2021 Jun;51(6):2159-2163. doi: 10.1007/s10803-020-04668-0. J Autism Dev Disord. 2021. PMID: 32816169 No abstract available.

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