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2007 1
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Mucopolysaccharidosis-Plus Syndrome.
Vasilev F, Sukhomyasova A, Otomo T. Vasilev F, et al. Among authors: sukhomyasova a. Int J Mol Sci. 2020 Jan 9;21(2):421. doi: 10.3390/ijms21020421. Int J Mol Sci. 2020. PMID: 31936524 Free PMC article.
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Sofronova V, Gotovtseva L, Danilova A, Sukhomyasova A, Moriwaki T, Terawaki S, Otomo T, Maksimova N. Sofronova V, et al. Among authors: sukhomyasova a. Genes (Basel). 2023 Aug 3;14(8):1581. doi: 10.3390/genes14081581. Genes (Basel). 2023. PMID: 37628632 Free PMC article.
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, Otomo T. Sofronova V, et al. Among authors: sukhomyasova a. Int J Mol Sci. 2022 May 23;23(10):5851. doi: 10.3390/ijms23105851. Int J Mol Sci. 2022. PMID: 35628659 Free PMC article.
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Kondo H, et al. Among authors: sukhomyasova a. Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377. Hum Mol Genet. 2017. PMID: 28013294
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T. Sofronova V, et al. Among authors: sukhomyasova a. Int J Mol Sci. 2023 Mar 15;24(6):5647. doi: 10.3390/ijms24065647. Int J Mol Sci. 2023. PMID: 36982718 Free PMC article.
Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
Morshneva A, Kozyulina P, Vashukova E, Tarasenko O, Dvoynova N, Chentsova A, Talantova O, Koroteev A, Ivanov D, Serebryakova E, Ivashchenko T, Sukhomyasova A, Maksimova N, Bespalova O, Kogan I, Baranov V, Glotov A. Morshneva A, et al. Among authors: sukhomyasova a. Genes (Basel). 2021 May 14;12(5):743. doi: 10.3390/genes12050743. Genes (Basel). 2021. PMID: 34069212 Free PMC article.
Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy.
Zarubin A, Stepanov V, Markov A, Kolesnikov N, Marusin A, Khitrinskaya I, Swarovskaya M, Litvinov S, Ekomasova N, Dzhaubermezov M, Maksimova N, Sukhomyasova A, Shtygasheva O, Khusnutdinova E, Radzhabov M, Kharkov V. Zarubin A, et al. Among authors: sukhomyasova a. Genes (Basel). 2020 Dec 25;12(1):19. doi: 10.3390/genes12010019. Genes (Basel). 2020. PMID: 33375616 Free PMC article.
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O. Maksimova N, et al. Among authors: sukhomyasova a. J Med Genet. 2010 Aug;47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577004 Free PMC article.
13 results