Results 181 to 190 of about 125,690 (294)

Pregnancy in women with hypertrophic cardiomyopathy

, 2012
Petronella G. Pieper, Fiona Walker
openalex   +2 more sources

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Evaluation of sudden cardiac death in hypertrophic cardiomyopathy. [PDF]

J Cardiovasc Imaging
Yoon SG, Hong GR.
europepmc   +1 more source

Asymptomatic Hypertrophic Cardiomyopathy: Diagnosis and Therapy [PDF]

, 2017
Fuentes, V L, Wilkie, L J
core   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy. [PDF]

Genes (Basel)
Žebrauskienė D, Sadauskienė E, Puronaitė R, Masiulienė R, Vaišnorė R, Bratčikovienė N, Valevičienė N, Barysienė J, Jakaitienė A, Preikšaitienė E.   +9 more
europepmc   +1 more source

Endocardial Fibrotic Lesions Have a Greater Effect on Peak Longitudinal Strain than Epicardial Fibrotic Lesions in Hypertrophic Cardiomyopathy Patients

, 2018
Nobusada Funabashi, Hiroyuki Takaoka, Koya Ozawa, Yoshio Kobayashi   +3 more
openalex   +2 more sources

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background

Epilepsia, EarlyView.
Abstract Objective The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counseling and individualized treatment. Penetrance is usually considered to be high or full, although this has never been studied in population cohorts.
Remi Stevelink, M. Martijn Piet, Yorgos Bos, Ruben van ’t Slot, Kees P. J. Braun, Bobby P. C. Koeleman   +5 more
wiley   +1 more source

New cases expand the genotype, phenotype and therapeutic landscape of H syndrome

British Journal of Haematology, EarlyView.
Clément Triaille, Julie Beauchemin, Philippe M. Campeau, Hugo Chapdelaine, Julie Dery, Maria Kondyli, Grant Mitchell, Julie Powell, Sophie Turpin, Guilhem Cros, Fabien Touzot   +10 more
wiley   +1 more source

Non‐Endocardial Radiofrequency Ablation of Premature Ventricular Complexes (NERA‐PVC): Safety, Efficacy and Outcome

Journal of Cardiovascular Electrophysiology, EarlyView.
Non‐endocardial radiofrequency ablation of PVCs is a safe and effective procedure, even with the use of high power and/or long duration RF application. Clinicians should consider this approach in case of LV summit and/or ASV PVCs, although long‐term follow‐up is still characterized by a relatively high recurrence rate.
Pasquale Valerio Falzone, Sara Vazquez‐Calvo, Jean Baptiste Guichard, Till Althoff, Paz Garre, Jose Maria Tolosana, Eduard Guasch, Roger Borras, Lluis Mont, Andreu Porta‐Sanchez, Ivo Roca‐Luque   +10 more
wiley   +1 more source