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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.
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.
[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.
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Barashkov NA, Konovalov FA, Borisova TV, Teryutin FM, Solovyev AV, Pshennikova VG, Sapojnikova NV, Vychuzhina LS, Romanov GP, Gotovtsev NN, Morozov IV, Bondar AA, Platonov FA, Burtseva TE, Khusnutdinova EK, Posukh OL, Fedorova SA. Barashkov NA, et al. Among authors: konovalov fa. Eur J Hum Genet. 2021 Jun;29(6):965-976. doi: 10.1038/s41431-021-00833-w. Epub 2021 Mar 25. Eur J Hum Genet. 2021. PMID: 33767456 Free PMC article.
35 results