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Clinical and Genetic Studies of VACTERL Association

2014-12-08 11:46:13 | BioPortfolio

Published on BioPortfolio: 2014-12-08T11:46:13-0500

Clinical Trials [478 Associated Clinical Trials listed on BioPortfolio]

Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of ...

Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities

Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinica...

Adult Congenital Heart Disease Surgery

It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. Unfortunately, these patients, in some way, have become a lost population. They hav...

White Matter Hyperintensities Burden in Adult Patients With Cyanotic Congenital Heart Disease: a Pilot Study

The study aims at investigating the role of cyanotic congenital heart disease (cCHD) on brain aging. The investigators assume that due to congenital and acquired cardiovascular abnormaliti...

VEPTR Implantation to Treat Children With Early Onset Scoliosis Without Rib Abnormalities

Primary Objective: To evaluate the use of unilateral or bilateral VEPTR devices, with or without expansion thoracoplasty, for preventing further progression of the Cobb angle, allowing for...

PubMed Articles [2542 Associated PubMed Articles listed on BioPortfolio]

Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis.

Our clinical experience led us to realize that craniovertebral junction (CVJ) abnormalities were common in surgical patients with congenital muscular torticollis (CMT). This study aimed to report the ...

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotypin...

Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience.

Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the...

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease.

This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA).

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Congenital heart defects represent a characteristic part of several genetic syndromes associated with chromosomal abnormalities such as 22q11.2 deletion syndrome; many genes located in this locus, mai...

Medical and Biotech [MESH] Definitions

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.

Congenital abnormalities that affect more than one organ or body structure.

Congenital structural abnormalities of the mouth and jaws, including the dentition.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.

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