Results 171 to 180 of about 372,565 (305)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Personalized Surgical Tactics for an Adult Patient with Mitral Insufficiency and Dextrocardia with Situs Inversus Totalis. [PDF]

Braz J Cardiovasc Surg
Kozlov BN, Petlin KA, Lelik EV, Afanasieva NL, Arsenyeva YA, Chernykh YN, Kim EB.   +6 more
europepmc   +1 more source

Acute pulmonary microembolism induces different regional changes in preload and contraction pattern in canine right ventricle [PDF]

, 1990
Forst, Helmuth, Messmer, Konrad, Zwißler, Bernhard   +2 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Recent advances in congenital heart disease with a systemic right ventricle: new insights for heart failure treatment from last EURO-ACHD Congress 2025. [PDF]

Eur Heart J Suppl
Fusco F, Di Salvo G, Nyktari E, Ladouceur M, Greutmann M, Jansen K, Russo MG, Scognamiglio G.   +7 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Carcinoid Heart Disease: Diagnostic Value of Cardiac MRI in a Patient With Metastatic Small‑Intestinal Neuroendocrine Tumor. [PDF]

J Belg Soc Radiol
Kaessner S, Saveyn T, Leenknegt B.
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Strain Analysis from Transverse CMR Cine Imaging in Congenital Heart Disease: Feasibility, Reproducibility, and Comparison to Global Longitudinal Strain. [PDF]

Healthcare (Basel)
Zieschang V, Kramer P, Götze C, Kelle S, Stegherr R, Khasheei A, Berger F, Nordmeyer J, Kühne T, Nordmeyer S, Schafstedde M.   +10 more
europepmc   +1 more source