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Results for
""Collagen Type VI""[mesh_terms]

9 Results

Searching titles within these results

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.

Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar

Journal of child neurology 2018;32(14):1099-1103

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Abstract

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

Barbara Steinborn, Rafał Płoski, Andrzej M Kochański, Wojciech Kozubski, Agnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska

Folia neuropathologica 2018;55(3):214-220

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Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

Yi Wang, Lei Zhao, Wenhua Zhu, Xihua Li, Lifei Yu, Kexin Jiao, Yiyun Shi, Chaoping Hu

Human mutation 2025;2024():3503253

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Skin benefits of a myconoside-rich extract from resurrection plant Haberlea rhodopensis.

G Dell'Acqua, K Schweikert

International journal of cosmetic science 2012;34(2):132-9

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Collagen Type III and VI Turnover in Response to Long-Term Immobilization.

Gabriele Armbrecht, Shu Sun, Kim Henriksen, Morten A Karsdal, Inger Byrjalsen, Jörn Rittweger, Daniel L Belavy, Dieter Felsenberg, Anders F Nedergaard

PloS one 2016;10(12):e0144525

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Higher Collagen VI Formation Is Associated With All-Cause Mortality in Patients With Type 2 Diabetes and Microalbuminuria.

Daniel G K Rasmussen, Tine W Hansen, Bernt J von Scholten, Signe H Nielsen, Henrik Reinhard, Hans-Henrik Parving, Martin Tepel, Morten A Karsdal, Peter K Jacobsen, Federica Genovese, Peter Rossing

Diabetes care 2018;41(7):1493-1500

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Endotrophin is associated with chronic multimorbidity and all-cause mortality in a cohort of elderly women.

Søren Brunak, Morten Karsdal, Claus Christiansen, Jørn Wulff Helge, Peder Frederiksen, Cecilie Liv Bager, Line Mærsk Staunstrup

EBioMedicine 2021;68():103391

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Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations.

A M Valdes, T D Spector, S Doherty, M Wheeler, D J Hart, M Doherty

Annals of the rheumatic diseases 2009;68(12):1916-20

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski

Human genomics 2019;12(1):34

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Results: 1 – 9 / 9

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Results for ""Collagen Type VI""[mesh_terms]

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

Skin benefits of a myconoside-rich extract from resurrection plant Haberlea rhodopensis.

Collagen Type III and VI Turnover in Response to Long-Term Immobilization.

Higher Collagen VI Formation Is Associated With All-Cause Mortality in Patients With Type 2 Diabetes and Microalbuminuria.

Endotrophin is associated with chronic multimorbidity and all-cause mortality in a cohort of elderly women.

Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations.

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Results for
""Collagen Type VI""[mesh_terms]