Results 11 to 20 of about 16,109 (164)

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome. [PDF]

Anatol J Cardiol, 2017
Carvajal syndrome is a cardiocutaneous syndrome characterized by dilated cardiomyopathy (DCM), woolly hair, and keratoderma (1). Here we present the case of two female siblings with Carvajal syndrome and a new homozygous frameshift mutation in desmoplakin (DSP).
Ramoğlu MG, Uçar T, Ceylaner S, Atalay S, Tutar E.   +4 more
europepmc   +3 more sources

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Molecular Genetics and Metabolism Reports, 2016
Background: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found.
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone   +4 more
doaj   +4 more sources

A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome). [PDF]

Iran J Pediatr, 2015
Arrhythmogenic right ventricular dysplasia (ARVD), a cardiomyopathy characterized by fibrofatty degeneration of the myocardium with progressive dysfunction, electrical instability, and sudden death, occurs in approximately 1 in 5000 people in the United States.We present a nine-year-old girl complaining of dyspnea, easy fatigability and skin lesions ...
Mohammadpour Ahranjani B, Moradi P, Nazari S, Farshadfar S.   +3 more
europepmc   +4 more sources

Dsprul: A spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome [PDF]

Experimental and Molecular Pathology, 2015
Studies of spontaneous mutations in mice have provided valuable disease models and important insights into the mechanisms of human disease. Ruffled (rul) is a new autosomal recessive mutation causing abnormal hair coat in mice. The rul allele arose spontaneously in the RB156Bnr/EiJ inbred mouse strain.
C Herbert Pratt, Laura G Reinholdt, David E Bergstrom   +2 more
exaly   +4 more sources

Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease) [PDF]

Circulation, 2007
Naxos disease is an autosomal recessively inherited familial syndrome that is characterized by woolly hair, palmoplantar keratoderma, and a cell adhesion cardiomyopathy, specifically an arrhythmogenic right ventricular dysplasia.1 This cardiocutaneous syndrome was first reported in the Hellenic island of Naxos.
Rainer Kozlik-Feldmann, Josef Mueller-Hoecker, M Reiser   +2 more
exaly   +2 more sources

Cardiac magnetic resonance imaging findings in primary arrhythmogenic left ventricular cardiomyopathy with cardiocutaneous phenotype—Carvajal syndrome [PDF]

HeartRhythm Case Reports, 2021
Emmanuel Akintoye, Mahi L Ashwath
exaly   +2 more sources

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

Internal Medicine, 2021
Togo Iwahana
exaly   +2 more sources

Carvajal Syndrome.

Int J Trichology, 2016
Srinivas SM, Kumar P, Basavaraja GV.
europepmc   +4 more sources

Woolly Hair: Essential Clue in Carvajal Syndrome.

Int J Trichology
García-Piqueras P, Manzano-Pablos RM, Camino-López M, Campos-Dominguez M.   +3 more
europepmc   +3 more sources

Phenotypic diversity of frontotemporal lobar degeneration in two novel GRN variants from Colombia. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Pathogenic progranulin (GRN) variants are among the main genetic causes of frontotemporal lobar degeneration (FTLD). These variants have been predominantly reported in European cohorts, but their characterization in Latin America remains scarce.
Barbosa-Carvajal JP, García-García M, Gómez Navarro LF, Zubiri V, Gelvez N, López G, Reyes P, García-Cifuentes E, Aguillón D, Acosta-Uribe J, Matallana DL.   +10 more
europepmc   +2 more sources