Results 141 to 150 of about 173,060 (305)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

P-406 Acceleration index as a novel indicator for contractility in permanently right ventricular paced heart failure patients with upgraded left ventricular lead [PDF]

, 2003
M. Heinke, H Kühnert, Ralf Surber, Gudrun Dannberg, Holger H. Sigusch, G. Schwar, Friedhelm Küthe, H. R. Figulla   +7 more
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Interventricular and intra-left ventricular electromechanical delays in right ventricular paced patients with heart failure: implications for upgrading to biventricular stimulation [PDF]

, 2003
Pierre Bordachar
openalex   +1 more source

Generating a Buzz About a New Treatment for Right Ventricular Failure. [PDF]

JACC Basic Transl Sci, 2023
Searles CD.
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Right Ventricular Outflow Versus Apical Pacing in Pacemaker Patients with Congestive Heart Failure and Atrial Fibrillation [PDF]

, 2003
Bruce S. Stambler, Kenneth A. Ellenbogen, Xiaozheng Zhang, Thomas R. Porter, Feng Xie, Rajesh Malik, Roy S. Small, Martin C. Burke, Andrew J. Kaplan, Lawrence Nair, Michael Belz, Charles E. Fuenzalida, Michael R. Gold, Charles J. Love, Arjun D. Sharma, Russell Silverman, Felix Sogade, Bruce W. Van Natta, Bruce L. Wilkoff   +18 more
openalex   +1 more source

Evolution and Predictors of Right Ventricular Failure in Fontan Patients: A Case-Control Study. [PDF]

J Clin Med
Kim HS, Abarbanell G, Simpson K, Abarbanell AM, Eghtesady P, Levy PT, Singh GK.   +6 more
europepmc   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Effect of sodium-glucose cotransporter 2 inhibitors on ventricular function in systemic right ventricular failure. [PDF]

Open Heart
Neijenhuis RM, Regeer MV, Walker NL, Mertens BJ, Hunter A, Kiès P, Swan L, Vliegen HW, MacDonald ST, Zemrak F, Zaidi AN, Cedars AM, Jongbloed MR, Jukema JW, Veldtman GR, Egorova AD.   +15 more
europepmc   +1 more source