Shurygina MF - Search Results

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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME. Shurygina MF, et al. Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. Invest Ophthalmol Vis Sci. 2020. PMID: 33137195 Free PMC article.

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME. Huckfeldt RM, et al. Mol Vis. 2020 Jun 3;26:423-433. eCollection 2020. Mol Vis. 2020. PMID: 32565670 Free PMC article.

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Shurygina MF, Parker MA, Schlechter CL, Chen R, Li Y, Weleber RG, Yang P, Pennesi ME. Shurygina MF, et al. BMC Ophthalmol. 2019 Dec 7;19(1):246. doi: 10.1186/s12886-019-1259-y. BMC Ophthalmol. 2019. PMID: 31810438 Free PMC article.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: shurygina mf. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.

[Diagnostics of inherited retinal degenerations by gene therapy].

Shurygina MF, Khoteeva AM. Shurygina MF, et al. Vestn Oftalmol. 2021;137(4):145-151. doi: 10.17116/oftalma2021137041145. Vestn Oftalmol. 2021. PMID: 34410070 Russian.

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