Results 271 to 280 of about 868,554 (359)

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

Congenital heart disease, pulmonary arterial hypertension and the UK’s Drivers and Vehicle Licensing Agency: controversial new guidance

Pulmonary Circulation, 2019
Andrew Constantine, Robert Tulloh, Robin Condliffe, Paul Clift, Konstantinos Dimopoulos   +4 more
doaj   +1 more source

Comparative Value of Echocardiography vs. Right Heart Catheterization in Heart Failure With Preserved Ejection Fraction. [PDF]

Echocardiography
Tran N, Shaar M, Al-Sudani H, Sedhom R, Akhtar H, Lo KB, Pressman GS.   +6 more
europepmc   +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

Woman in her seventh decade with huge heart in thorax. [PDF]

J Cardiothorac Surg
Chen W, He L, Shen C.
europepmc   +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

Lung POCUS in a Pulmonary Outpatient Clinic: Balancing Utility and Feasibility. [PDF]

POCUS J
Sridhar P, Patrawalla P, Kim B.
europepmc   +1 more source

Acquired Cardiovascular Diseases in Patients with Pulmonary Hypertension Due to Congenital Heart Disease: A Case Report [PDF]

Eglė Ereminienė, Mantvydas Stuoka, Rasa Ordienė, Jurgita Plisienė, Skaidrius Miliauskas, Eglė Tamulėnaitė   +5 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Reply to Zeng: Redefining Accelerated Pulmonary Hypertension in Idiopathic Pulmonary Fibrosis: Uncovering Treatment Effects and Novel Triggers. [PDF]

Am J Respir Crit Care Med
Nathan SD, Kim HC, King C, Chandel A.
europepmc   +1 more source