Results 61 to 70 of about 1,134,764 (129)

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review. [PDF]

Clin Cosmet Investig Dermatol, 2023
Zhao XJ, Bai CY, Li XY, Wang L, Wang RP, Xia Y, Liu G, Zhao HL, Xu HZ.   +8 more
europepmc   +1 more source

Scaling skin and failing heart: the cardio-cutaneous connection. [PDF]

Indian J Thorac Cardiovasc Surg, 2022
Krishnan GS, Sharma D, Sharma N, Chandrashekhar A.   +3 more
europepmc   +1 more source

Carvajal Syndrome- A Variant of Naxos Disease: A Case Report. [PDF]

JNMA J Nepal Med Assoc, 2022
Mandal KD, Shrestha PN, Ghimire A, Joshi P, Agrawal S, Shrestha P.   +5 more
europepmc   +1 more source

Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review. [PDF]

Intern Med, 2021
Sato T, Okada S, Iwahana T, Kobayashi Y.
europepmc   +1 more source

LMNA-related cardiocutaneous progeria syndrome [PDF]

, 2020
openaire   +1 more source

Congenital Palmoplantar Keratoderma and Woolly Hair in a Child: A Quiz

Acta Dermato-Venereologica
Lucie Harpain, Christiane Pees, Julian Heno, Sonja Radakovic   +3 more
doaj   +1 more source

Acute Myocardial Infarction-Like Events in Related Patients With a Desmoplakin-Associated Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep, 2021
Singh SM, Sharkey SW, Casey SA, Harris KM, Thaler CM, Chung M, Berg A, Bennett MK, Ducanson ER, Mackey-Bojack S, Sengupta JD.   +10 more
europepmc   +1 more source

Homozygous Nonsense <i>DSP</i> Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings. [PDF]

J Clin Med
Al-Mutairi DA, Al-Qbandi MA, AlTurki A, Naief AA, Helms AS.   +4 more
europepmc   +1 more source

Naxos Disease and Related Cardio-Cutaneous Syndromes. [PDF]

JACC Adv
Protonotarios A, Asimaki A, Basso C, Xylouri Z, Monda E, Protonotarios I, Crisci G, Abrahms DJ, Anastasakis A, Antoniades L, Bakalakos A, Carbone A, S Coonar A, Gimeno JR, Lazaros G, Lerakis S, Mestroni L, Papadopoulos G, Pecchia L, Prandi FR, Syrris P, Cadrin-Turigny J, Vasilakis A, Saffitz JE, Thiene G, Elliott PM, Kaski JP, McKenna WJ, Bossone E, Limongelli G, Tsatsopoulou A.   +30 more
europepmc   +1 more source

Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion. [PDF]

J Clin Med, 2021
Cabrera-Borrego E, Montero-Vilchez T, Bermúdez-Jiménez FJ, Tercedor-Sánchez J, Tercedor-Sánchez L, Sánchez-Díaz M, Macías-Ruiz R, Molina-Jiménez M, Cañizares-García FJ, Fernández-Segura E, Fernandez-Flores A, Arias-Santiago S, Jiménez-Jáimez J.   +12 more
europepmc   +1 more source