Results 221 to 230 of about 2,331,622 (397)

SPONTANEOUS RUPTURE OF THE RIGHT VENTRICLE OF THE HEART [PDF]

BMJ, 1927
openaire   +2 more sources

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Blueprint of the distinct metabolite profiles of healthy pig heart chambers. [PDF]

J Mol Cell Cardiol Plus
Haikonen R, Meuronen T, Koistinen V, Kärkkäinen O, Tuomainen T, Solano-Aguilar GI, Urban JF, Lehtonen M, Tavi P, Hanhineva K.   +9 more
europepmc   +1 more source

Heart Failure and Ventricular Dysfunction in Patients With Single or Systemic Right Ventricles

Circulation, 2002
S. Piran, G. Veldtman, S. Siu, G. Webb, Peter. P. Liu   +4 more
semanticscholar   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Combined mechanical ventilatory and mechanical circulatory support aids pulmonary vascular state in cardiogenic shock. [PDF]

Intensive Care Med Exp
Lamberti KK, Edelman ER, Keller SP.
europepmc   +1 more source

Successful cardiac transplant after Berlin Heart bridge in a single ventricle heart: Use of aortopulmonary shunt as a supplementary source of pulmonary blood flow [PDF]

, 2008
F. Bennett Pearce, James K. Kirklin, William L. Holman, Cindy Barrett, Robb L. Romp, Yung R. Lau   +5 more
openalex   +1 more source

Different intracellular polyamine concentrations underlie the difference in the inward rectifier K+ currents in atria and ventricles of the guinea‐pig heart

Journal of Physiology, 2005
Ding-Hong Yan, K. Nishimura, Kaori Yoshida, K. Nakahira, T. Ehara, K. Igarashi, K. Ishihara   +6 more
semanticscholar   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source