Results 41 to 50 of about 2,016,730 (252)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Prevalence and Etiology of Heart Murmurs in 2-24-Months-Old Infants Kerman, Iran [PDF]

Journal of Kerman University of Medical Sciences, 2014
Background & aim: Congenital heart disease is one of the most common malformations at birth that require timely recognition and treatment. The aim of this study was to determine the prevalence and etiology of detected heart murmurs and association ...
M.M Bagheri, M.H Torabi-Nezhad, Z Jamali, M.R Baneshi   +3 more
doaj  

Congenital Heart Disease among Down Syndrome Children at Dr. Hasan Sadikin General Hospital from 2008 to 2013

Althea Medical Journal, 2018
Background: Children with Down syndrome are more prone to congenital heart disease due to the consequences of trisomy chromosomal 21 on gene expression. The aim of this study was to determine the pattern of congenital heart disease in children with Down ...
Thyviyaa Rajamany, Rahmat Budi Kuswiyanto, Leonardo Lubis   +2 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

The detailed profile of congenital heart diseases in 254 children with Down syndrome in Saudi Arabia

The Cardiothoracic Surgeon
Background Down syndrome is the most common chromosomal abnormality in humans. It is associated with several congenital anomalies, including a spectrum of congenital heart diseases.
Naif Alkhushi
doaj   +1 more source

Severe pulmonary hypertension and reduced right ventricle systolic function associated with maternal mortality in pregnant uncorrected congenital heart diseases

Pulmonary Circulation, 2019
Background Pregnant uncorrected congenital heart disease patients, especially those who already developed pulmonary hypertension, have increased risk for maternal mortality.
Anggoro B. Hartopo, Dyah W. Anggrahini, Detty S. Nurdiati, Noriaki Emoto, Lucia K. Dinarti   +4 more
doaj   +1 more source

Massive Right Ventricle Enlargement in Unrepaired Sinus Venosus Atrial Septal Defect

JACC: Case Reports, 2023
Sinus venosus atrial septal defect (SVASD) with partial anomalous pulmonary venous return is a rare congenital heart defect that may present in adulthood when right heart enlargement has already occurred.
Carlo Mannina, MD, Kali Hopkins, MD, Barry Love, MD, Ali N. Zaidi, MD   +3 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

, 2012
Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Jean Bennett, Francesca Simonelli, Simonelli Francesca, BENNETT J, Testa, Francesco, Francesco Testa, Paolo Melillo, Leandro Pecchia, Rossi, Settimio, Pecchia Leandro, Testa Francesco, Bennett, Jean, M.D., Pecchia, Leandro, PECCHIA L, Melillo, Paolo, Settimio Rossi, Simonelli, Francesca, Bennett Jean, Rossi Settimio   +19 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source