Search Results - "Shurygina, Maria F"

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by Marakhonov, Andrey V, Mishina, Irina A, Kadyshev, Vitaly V, Repina, Svetlana A, Shurygina, Maria F, Shchagina, Olga A, Vasserman, Natalya N, Vasilyeva, Tatyana A, Kutsev, Sergey I, Zinchenko, Rena A

“…Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary…”
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A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants by Shurygina, Maria F, Parker, Maria A, Schlechter, Catie L, Chen, Rui, Li, Yumei, Weleber, Richard G, Yang, Paul, Pennesi, Mark E

“…Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and…”
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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy by Shurygina, Maria F, Simonett, Joseph M, Parker, Maria A, Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A, Dadali, Elena L, Mishina, Irina A, Weleber, Richard G, Yang, Paul, Pennesi, Mark E

“…The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative…”
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