Results 111 to 120 of about 13,956 (158)

Coocorrência de mutações nos genes PTPN11 e SOS1 na síndrome de Noonan: este achado prediz um fenótipo mais grave?

, 2010
Noonan syndrome (NS) is an autosomal dominant disorder, with variable phenotypic expression, characterized by short stature, facial dysmorphisms and heart disease.
MALAQUIAS, Alexsandra C., KIM, Chong Ae, KRIEGER, José Eduardo, JORGE, Alexander A. L., BRASIL, Amanda Salem, WANDERLEY, Luciana Turolla, BERTOLA, Débora Romeo, PEREIRA, Alexandre C.   +7 more
core  

A Importância da Identificação dos Fenótipos na Hipertensão Arterial [PDF]

Arquivos Brasileiros de Cardiologia
Rui Póvoa
doaj   +1 more source

Physical Activity Levels and Quality of Life in Outpatients with Cardiac Arrhythmias and Preserved Left Ventricular Function: Understanding Their Profile. [PDF]

Arq Bras Cardiol
Bueno SCP, Oliveira PA, Pagotti M, Sacilotto L, Pessente GD, Braga PGS, Souza AL, Brigido ARD, Negrão CE, Darrieux FCC, Scanavacca M.   +10 more
europepmc   +1 more source

The Thickness That Deceives: The Role of Imaging, Biopsy, and Genetics in the Evaluation of Ventricular Hypertrophy. [PDF]

Arq Bras Cardiol
Antunes MO.
europepmc   +1 more source

Late-Onset Fabry Disease: Diagnostic Challenges and Clinical Evolution. [PDF]

Arq Bras Cardiol
Mejía HPG, Madogolele HDCN, Barroso MCRD, Nogueira MCA, Morales KRP, Romero CE, Nastari L, Fernandes F.   +7 more
europepmc   +1 more source

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]

Arq Bras Cardiol
Ribeiro GNP, Lipari LFVP, Senra PM, Pires LVL, Mizuta MH, Olivetti NQS, Aiello VD, Krieger JE.   +7 more
europepmc   +1 more source

Conflicting Clues in Severe LV Hypertrophy: An Unusual Presentation of ATTR Amyloidosis. [PDF]

Arq Bras Cardiol
Fernandes ASN, Faria J, Vieira CF.
europepmc   +1 more source

Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort. [PDF]

Arq Bras Cardiol
Beuren T, Scolari F, Sperb-Ludwig F, Ferrari F, Rossi A, Zawislak R, van Tintelen P, Stein R.   +7 more
europepmc   +1 more source

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant. [PDF]

J Bras Nefrol
Ribeiro L, Pompermayer M, Santos C, Coutinho J.   +3 more
europepmc   +1 more source

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. [PDF]

J Bras Nefrol
Ayoub EAM, Vaisbich MH, Rocha DR, Cerqueira BP, Matos ACC, Pietrobom IG, Heilberg IP.   +6 more
europepmc   +1 more source