Results 91 to 100 of about 366,922 (396)

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

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

Genes, 2016
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation ...
I. Chung, G. Rajakumar
semanticscholar   +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

Le Cœur en Sabot: shape associations with adverse events in repaired tetralogy of Fallot

Journal of Cardiovascular Magnetic Resonance, 2022
Background Maladaptive remodelling mechanisms occur in patients with repaired tetralogy of Fallot (rToF) resulting in a cycle of metabolic and structural changes.
Anna Mîra, Pablo Lamata, Kuberan Pushparajah, Georgina Abraham, Charlène A. Mauger, Andrew D. McCulloch, Jeffrey H. Omens, Malenka M. Bissell, Zach Blair, Tyler Huffaker, Animesh Tandon, Sandy Engelhardt, Sven Koehler, Thomas Pickardt, Philipp Beerbaum, Samir Sarikouch, Heiner Latus, Gerald Greil, Alistair A. Young, Tarique Hussain   +19 more
doaj   +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

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]

, 2011
Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core   +1 more source

Szemléletváltozás a Down-szindrómás szívbetegek szívsebészeti kezelésében, 1974–2016 | Change in our approach in the surgical management of congenital heart defects in patients with Down syndrome, 1974–2016 [PDF]

, 2016
Absztrakt Bevezetés: Down-szindrómás betegeknél gyakori a veleszületett szívfejlődési rendellenesség. Célkitűzés: A szerzők megvizsgálták, hogy a szívsebészetben bekövetkező szemléletváltozások ...
Bogáts, Gábor, Hartyánszky, István
core   +1 more source

Risk of Congenital Heart Defects after Ambient Heat Exposure Early in Pregnancy

Environmental Health Perspectives, 2016
Background: Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. Objectives: We studied the relationship between outdoor heat during the first trimester of pregnancy
N. Auger, W. Fraser, R. Sauve, M. Bilodeau-Bertrand, T. Kosatsky   +4 more
semanticscholar   +1 more source