Results 231 to 240 of about 130,285 (357)

Analysis of the fiber architecture of the heart by quantitative polarized light microscopy. Accuracy, limitations and contribution to the study of the fiber architecture of the ventricles during fetal and neonatal life☆ [PDF]

, 2007
Pierre‐Simon Jouk, Ayman Mourad, Vuk Milišić, Gabrielle Michalowicz, A. Raoult, Denis Caillerie, Yves Usson   +6 more
openalex   +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

Loss of Na⁺,HCO₃ ^--Cotransporter NBCn1 Inhibits Net Acid Extrusion in the Atria and Causes Hypertension-Associated Cardiac Hypertrophy. [PDF]

Acta Physiol (Oxf)
Espejo MS, Orlowski A, Sørensen TM, Matchkov VV, Aiello EA, Boedtkjer E.   +5 more
europepmc   +1 more source

Case of Rupture of the Right Ventricle of the Heart [PDF]

BMJ
openaire   +3 more sources

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

PD5-1-1: The influence of radiation dose to the ventricles of the heart on survival in radical treated locally advanced NSCLC [PDF]

, 2007
Olfred Hansen, Carsten Brink, Morten Nielsen, Thomine Stolberg-Rohr   +3 more
openalex   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

One Ventricle, 3000 Proteins: Unraveling the Molecular Landscape of the Fontan Circulation

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Jennifer P. Woo, Alexander R. Opotowsky
doaj   +1 more source

Inpatient cardiac rehabilitation after implantation of a total artificial heart (Aeson device CARMAT) in case of ventricular septal defect after infarction. [PDF]

Eur Heart J Case Rep
Fiebiger R, Dashkevich A, Nozdrzykowski M, Jozwiak-Nozdrzykowska J, Gjermeni E.   +4 more
europepmc   +1 more source

Analysis of the Influence of the Electrical Asynchrony on Regional Mechanics of the Infarcted Left Ventricle Using Electromechanical Heart Models.

, 2003
Feng Liu, Ling Xia, Xin Zhang
openalex   +2 more sources