Search Results - "Sokolnikova, Polina"

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis by Zlotina, Anna, Barashkova, Svetlana, Zhuk, Sergey, Skitchenko, Rostislav, Usoltsev, Dmitrii, Sokolnikova, Polina, Artomov, Mykyta, Alekseenko, Svetlana, Simanova, Tatiana, Goloborodko, Maria, Berleva, Olga, Kostareva, Anna

“…Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype…”
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Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met by Rodina, Nataliia, Khudiakov, Aleksandr, Perepelina, Kseniya, Muravyev, Aleksey, Boytsov, Aleksandr, Zlotina, Anna, Sokolnikova, Polina, Kostareva, Anna

“…Human iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic…”
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Generation of iPSC line FAMRCi010-A from patient with restrictive cardiomyopathy carrying genetic variant FLNC p.Gly2011Arg by Perepelina, Kseniya, Khudiakov, Aleksandr, Rodina, Nataliia, Boytsov, Aleksandr, Vavilova, Tatiana, Zlotina, Anna, Sokolnikova, Polina, Kostareva, Anna

“…Human iPSC cell line FAMRCi010-A was generated from a patient with restrictive cardiomyopathy carrying FLNC p.Gly2011Arg genetic variant. Patient-specific…”
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Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease by Gurschenkov, Alexandr, Andreeva, Sofiya, Zaitsev, Vadim, Khazov, Pavel, Ischmukhametov, Gleb, Kozyreva, Alexandra, Sokolnikova, Polina, Moiseeva, Olga, Kostareva, Anna, Gordeev, Mikhail

“…Anderson-Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular…”
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Skeletal abnormalities, pediatric-onset severe osteoporosis, and multiple fragility fractures in a patient with a novel CTNNB1 de novo variant by Lesnyak, Olga, Marini, Francesca, Sokolnikova, Polina, Sorokina, Margarita, Sukhareva, Kseniya, Artamonova, Irina, Kenis, Vladimir, Tkach, Olga, Kostareva, Anna, Brandi, Maria Luisa

“…We report a case of a patient with a de novo germline heterozygous truncating variant of CTNNB1 gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental…”
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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63 -Compound Heterozygous Variant by Andreeva, Sofiya, Chumakova, Olga, Karelkina, Elena, Lebedeva, Viktoriya, Lubimtseva, Tamara, Semenov, Andrey, Nikitin, Alexey, Speshilov, Gleb, Kozyreva, Alexandra, Sokolnikova, Polina, Zhuk, Sergey, Fomicheva, Yuliya, Moiseeva, Olga, Kostareva, Anna

“…Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of…”
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The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population by Kofeynikova, Olga, Alekseeva, Daria, Vershinina, Tatiana, Fetisova, Svetlana, Peregudina, Olga, Kovalchuk, Tatiana, Yakovleva, Elena, Sokolnikova, Polina, Klyushina, Alexandra, Chueva, Kseniia, Kostareva, Anna, Pervunina, Tatiana, Vasichkina, Elena

“…IntroductionThe present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and…”
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A Net-Zero Energy System Solution for Russian Rural Communities by Lombardi, Pio, Arendarski, Bartlomiej, Suslov, Konstantin, Shamarova, Natalia, Sokolnikova, Polina, Pantaleo, Antonio Marco, Komarnicki, Przemyslaw

“…The COP 21 agreement state that the reduction of CO 2 emissions will limit the rise of global temperatures and thus the impacts of global warming. Since the…”
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Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children by Kovalchuk, Tatiana, Yakovleva, Elena, Fetisova, Svetlana, Vershinina, Tatiana, Lebedeva, Viktoriya, Lyubimtseva, Tamara, Lebedev, Dmitriy, Mitrofanova, Lubov, Ryzhkov, Anton, Sokolnikova, Polina, Fomicheva, Yuliya, Kozyreva, Alexandra, Zhuk, Sergey, Smolina, Natalia, Zlotina, Anna, Pervunina, Tatiana, Kostareva, Anna, Vasichkina, Elena

“…Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias,…”
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Clinical case of a compound heterozygote patient with severe hypertriglyceridemia by Bakaleyko, Viktoria, Reutova, Olga, Usova, Elena, Alieva, Asiiat, Sokolnikova, Polina, Kostareva, Anna

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Cascade screening for FH patients with VUS to improve pathogenicity classification by Alieva, Asiiat, Di Costanzo, Alessia, Reutova, Olga, Usova, Elena, Sokolnikova, Polina, Bakaleiko, Viktoria, Galimberti, Federica, Olmastroni, Elena, Kostareva, Anna, Catapano, Alberico, Casula, Manuela

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Fine-needle aspiration technique under endoscopic ultrasound guidance: A technical approach for RNA profiling of pancreatic neoplasms by Seyfedinova, Sabina Sherafedinovna, Freylikhman, Olga Aleksandrovna, Sokolnikova, Polina Sergeevna, Samochernykh, Konstantin Aleksandrovich, Kostareva, Anna Aleksandrovna, Kalinina, Olga Viktorovna, Solonitsyn, Evgeniy Gennadievich

“…Early diagnosis of pancreatic ductal adenocarcinoma (PDAC) has been a longstanding challenge. The prognosis of patients with PDAC depends on the stage at…”
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Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met by Rodina, Nataliia, Khudiakov, Aleksandr, Perepelina, Kseniya, Muravyev, Aleksey, Boytsov, Aleksandr, Zlotina, Anna, Sokolnikova, Polina, Kostareva, Anna

“…Human iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic…”
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RBM20 -Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart by Vakhrushev, Yuriy, Kozyreva, Alexandra, Semenov, Andrey, Sokolnikova, Polina, Lubimtseva, Tamara, Lebedev, Dmitry, Smolina, Natalia, Zhuk, Sergey, Mitrofanova, Lubov, Vasichkina, Elena, Kostareva, Anna

“…(RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, mutations were…”
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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant by Andreeva, Sofiya, Chumakova, Olga, Karelkina, Elena, Lebedeva, Viktoriya, Lubimtseva, Tamara, Semenov, Andrey, Nikitin, Alexey, Speshilov, Gleb, Kozyreva, Alexandra, Sokolnikova, Polina, Zhuk, Sergey, Fomicheva, Yuliya, Moiseeva, Olga, Kostareva, Anna

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RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart by Vakhrushev, Yuriy, Kozyreva, Alexandra, Semenov, Andrey, Sokolnikova, Polina, Lubimtseva, Tamara, Lebedev, Dmitry, Smolina, Natalia, Zhuk, Sergey, Mitrofanova, Lubov, Vasichkina, Elena, Kostareva, Anna

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Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children by Kovalchuk, Tatiana, Yakovleva, Elena, Fetisova, Svetlana, Vershinina, Tatiana, Lebedeva, Viktoriya, Lyubimtseva, Tamara, Lebedev, Dmitriy, Mitrofanova, Lubov, Ryzhkov, Anton, Sokolnikova, Polina, Fomicheva, Yuliya, Kozyreva, Alexandra, Zhuk, Sergey, Smolina, Natalia, Zlotina, Anna, Pervunina, Tatiana, Kostareva, Anna, Vasichkina, Elena

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