Myocardial histopathology in patients with obstructive hypertrophic cardiomyopathy
… Genetic testing can be used to differentiate patients with HCM from those with different …
Follow-up survey responses were also used to construct an ordinal longitudinal outcome for New …
Follow-up survey responses were also used to construct an ordinal longitudinal outcome for New …
Sport and exercise in genotype positive (+) phenotype negative (−) individuals: current dilemmas and future perspectives
A Paldino, M Rossi, M Dal Ferro, I Tavčar… - European Journal of …, 2023 - academic.oup.com
… after her son is diagnosed with hypertrophic cardiomyopathy. The electrocardiogram shows
… Even if penetrance is incomplete, genetic screening and clinical follow-up in asymptomatic …
… Even if penetrance is incomplete, genetic screening and clinical follow-up in asymptomatic …
Development and evaluation of decision aids to guide families' predictive testing choices for children at risk for arrhythmia or cardiomyopathy
S Christian, A Welsh, J Yetman, P Birch… - Canadian Journal of …, 2021 - Elsevier
… that address cardiac genetic testing and predictive genetic testing in … research suggests
that the uptake of genetic testing for children at risk of an inherited arrhythmia or cardiomyopathy …
that the uptake of genetic testing for children at risk of an inherited arrhythmia or cardiomyopathy …
[HTML][HTML] Genetic diagnosis in acromegaly and gigantism: from research to clinical practice
C Ramírez-Rentería, LC Hernández-Ramírez - … Practice & Research Clinical …, 2024 - Elsevier
… treated, but there are no available follow-up data. Young-onset acromegaly in … penetrance,
termed multiple endocrine neoplasia type 4 (MEN4, MIM 610755) [95], [96], [97]. The clinical …
termed multiple endocrine neoplasia type 4 (MEN4, MIM 610755) [95], [96], [97]. The clinical …
Evolutionary dissection of mtDNA hg H: A susceptibility factor for hypertrophic cardiomyopathy
… to confer differences in penetrance of two from three primary mutations that cause Leber’s
hereditary optic neuropathy (LHON), with there being an increased penetrance on a hg J …
hereditary optic neuropathy (LHON), with there being an increased penetrance on a hg J …
[HTML][HTML] Role of genetic testing in cardiomyopathies: Α primer for cardiologists
G Vogiatzi, G Lazaros, E Oikonomou… - World Journal of …, 2022 - ncbi.nlm.nih.gov
… , specifically as hypertrophic cardiomyopathy (HCM), dilated … all depending on the penetrance
of the disease-causing mutations. … with a 12-year follow-up, positive genetic test result was …
of the disease-causing mutations. … with a 12-year follow-up, positive genetic test result was …
[PDF][PDF] Noncompaction Cardiomyopathy: Genotype–Phenotype Associations
J van Waning - 2020 - repub.eur.nl
… an unknown genetic predisposition with low penetrance that conveys a small risk to relatives.
… of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of …
… of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of …
[PDF][PDF] … Psychoeducational Intervention to Support Patients Undergoing Screening And/or Predictive Genetic Testing for Inherited Cardiac Conditions (the PISICC Study …
T Bueser, P Care - 2022 - kclpure.kcl.ac.uk
… There is a high rate of drop-out from follow up of family … of symptomatic obstructive hypertrophic
cardiomyopathy FH … This is the concept of reduced penetrance where it is possible that a …
cardiomyopathy FH … This is the concept of reduced penetrance where it is possible that a …
Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
S Grlić, V Gregurović, M Martinić, M Davidović, I Kos… - Children, 2024 - mdpi.com
… -center pediatric CyKD cohort followed during a 12-year period. … evaluated for ≥2 years
were classified as lost to follow-up. … help in anticipating the penetrance of genetic defects to the …
were classified as lost to follow-up. … help in anticipating the penetrance of genetic defects to the …
[图书][B] Cascade Health Service Use in Families of Children with Cardiomyopathy: Implications for Health Technology Assessment
A Cernat - 2020 - search.proquest.com
… terms genetic test and genetic testing will refer solely to the … Among 155 children from the
PCMR with LVNC, the following … at five years follow-up: 67% of the entire study sample; 94% of …
PCMR with LVNC, the following … at five years follow-up: 67% of the entire study sample; 94% of …