Výsledky vyhledávání - "Mária Giertlová"

Akademický článek

Novel surfactant C variant c.325–47_374del without response to hydroxychloroquine treatment

Autor: Simona Drobnakova, Veronika Vargova, Jana Smolova, Petra Drencakova, Maria Giertlova, Maria Pisarcikova, László Barkai

Publikováno v: Respiratory Medicine Case Reports, Vol 50, Iss , Pp 102034- (2024)

Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant. Genetic an

Externí odkaz: https://doaj.org/article/b7e60a4072d045c3974332ecf36c3bf5

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Akademický článek

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Autor: Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Abstract Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated

Externí odkaz: https://doaj.org/article/0b379a1de883407db431fdd402fb9fb5

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Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated region o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f5913a70ade405c152c5e900ea238ba
https://pubmed.ncbi.nlm.nih.gov/32337852

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