Results 21 to 30 of about 16,109 (164)

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22 [PDF]

, 2012
A substantial proportion of familial colorectal cancer (CRC) is not a consequence of known susceptibility loci, such as mismatch repair (MMR) genes, supporting the existence of additional loci.
Allyson S Templeton, Brenda Diergaarde, Brooke L Fridley, Colon CFR, D Timothy Bishop, Daniel Buchanan, Daniel J Serie, Duncan C Thomas, Ellen L Goode, Finlay A Macrae, Fredrick Schumacher, Graeme P Young, Graham Casey, H Banfield Younghusband, Ingrid Winship, Jane S Green, Joanne P Young, John D Potter, John L Hopper, Julie M Cunningham, Loic Le Marchand, Mark A Jenkins, Melissa S DeRycke, Mine S Cicek, Noralane M Lindor, Polly A Newcomb, Robert W Haile, Roger C Green, Stephen N Thibodeau, Steven Gallinger, Susan Parry, Theodore G Krontiris, William R Bamlet, Zhu Chen   +33 more
core   +19 more sources

A Young Man With Recurrent Syncope

Annals of Internal Medicine: Clinical Cases, 2023
A 35-year-old man presented with recurrent syncope. On examination, wooly hair and palmoplantar hyperkeratosis were seen. Cardiac magnetic resonance imaging showed late gadolinium enhancement, and a genetic test ultimately confirmed the diagnosis of ...
Clement Lee, Anjali Owens
doaj   +1 more source

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Chinese Medical Journal, 2021
. Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found
Zhong-Yu Yuan, Li-Ting Cheng, Ze-Feng Wang, Yong-Quan Wu, Ning-Ning Wang   +4 more
doaj   +1 more source

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report. [PDF]

Mol Genet Genomic Med
Pallister‐Hall syndrome: from phenotype to molecular diagnosis. ABSTRACT Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Bonilla-Navarrete S, Prieto LE, Carvajal LV, Olave-Rodríguez JA, Rodriguez-Rojas LX, Nastasi-Catanese JA.   +5 more
europepmc   +2 more sources

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study

BMC Medical Genomics, 2023
Background Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous ...
Malena P. Pantou, Polyxeni Gourzi, Vasiliki Vlagkouli, Efstathios Papatheodorou, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis, Aris Anastasakis   +7 more
doaj   +1 more source

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease

Swiss Medical Weekly, 2012
STUDY/PRINCIPLES: Arrythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal-dominantly inherited disease caused by mutations in genes encoding desmosomal proteins and is characterised by fibrofatty replacement occurring ...
Dagmar I Keller, Dimitri Stepowski, Christian Balmer, Francoise Simon, Joelle Guenthard, Fabrice Bauer, Peter Itin, Nadine David, Valérie Drouin-Garraud, Véronique Fressart   +9 more
doaj   +1 more source

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review

BMC Cardiovascular Disorders, 2022
Background Arrhythmogenic cardiomyopathy (AC) is a rare, heritable myocardial disorder that is a leading cause of ventricular arrhythmia and sudden cardiac death (SCD) in young people. Desmoplakin (DSP) mutations account for 3–20% of AC cases.
Cátia Santos-Ferreira, Rui Baptista, Tiago Teixeira, Lino Gonçalves   +3 more
doaj   +1 more source

Carpal tunnel syndrome associated with oral bisphosphonates. A population-based cohort study [PDF]

, 2015
© 2016 Carvajal et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Arias, LHM, Carvajal, A, Cornelius, VR, Escudero, A, Fierro, I, Molokhia, M, Sauzet, O, Sáinz, M   +7 more
core   +1 more source

Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Российский кардиологический журнал, 2018
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko   +5 more
doaj   +1 more source

Anesthesia in Carvajal syndrome; the first case report

Anaesthesia, Pain & Intensive Care, 2020
Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic
Mehrdad Memarzade, Amir Shafa, Reza Aminnejad, Sedighe Shahhosseini   +3 more
openaire   +1 more source