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Items: 10

Select item 50593891.

Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy

AKM Monwarul Islam, Md. Toufiqur Rahman, Abu Hana Chowdhury

Cardiovasc Diagn Ther. 2016 Oct; 6(5): 462–465. doi: 10.21037/cdt.2016.03.07

PMCID:: PMC5059389

Abstract Article PDF–988K

Select item 14359942.

Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect

Nikos Protonotarios, Adalena Tsatsopoulou

Orphanet J Rare Dis. 2006; 1: 4. Published online 2006 Mar 13. doi: 10.1186/1750-1172-1-4

PMCID:: PMC1435994

Abstract Article PDF–888K

Select item 93220083.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling

Exp Dermatol. 2022 Jun; 31(6): 970–979. Published online 2022 Apr 1. doi: 10.1111/exd.14571

PMCID:: PMC9322008

Abstract Article PDF–25M

Select item 60302224.

Cell autonomous role of iASPP deficiency in causing cardiocutaneous disorders

Zinaida Dedeić, Gopinath Sutendra, Ying Hu, Kathryn Chung, Elizabeth A. Slee, Michael J. White, Felix Y. Zhou, Robert D. Goldin, David J. P. Ferguson, Debra McAndrew, Jurgen E. Schneider, Xin Lu

Cell Death Differ. 2018 Jul; 25(7): 1289–1303. Published online 2018 Jan 19. doi: 10.1038/s41418-017-0039-6

PMCID:: PMC6030222

Abstract Article PDF–4.7M

Select item 22656605.

A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy

Angeliki Asimaki, Petros Syrris, Thomas Wichter, Paul Matthias, Jeffrey E. Saffitz, William J. McKenna

Am J Hum Genet. 2007 Nov; 81(5): 964–973. Published online 2007 Sep 28. doi: 10.1086/521633

PMCID:: PMC2265660

Abstract Article PDF–756K

Select item 99179176.

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

Tolga Çimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdiş, Shehab Anwer, Felix C. Tanner, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner

J Clin Med. 2023 Feb; 12(3): 913. Published online 2023 Jan 24. doi: 10.3390/jcm12030913

PMCID:: PMC9917917

Abstract Article PDF–2.7M

Select item 95032747.

Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction

Mathilde C. S. C. Vermeer, Daniela Andrei, Luisa Marsili, J. Peter van Tintelen, Herman H. W. Silljé, Maarten P. van den Berg, Peter van der Meer, Maria C. Bolling

Int J Mol Sci. 2022 Sep; 23(18): 10765. Published online 2022 Sep 15. doi: 10.3390/ijms231810765