Results 61 to 70 of about 3,896,028 (254)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, میرزا رحیمی, مهرداد, عیسی زاده فر, خاطره, علی پور, رقیه, سعادتی, حکیمه   +5 more
core  

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

Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Brook, J David, Fitzpatrick, David F, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., Hitz, Marc-Phillip, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Mital, S., FitzPatrick, David F., Bu’Lock, Frances A., Bentham, Jamie, Bhattacharya, Shoumo, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Schubert, S., Al Turki, Saeed, Wilson, David I, Bhattacharya, S., Gerety, Sebastian S., Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Thornborough, Chris, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., D'Alessandro, Lisa C.A., Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Manickaraj, Ashok K., Brook, J.D., Louw, Jacoba, Hoff, Kirstin, Low, Jacoba, FitzPatrick, David R.   +98 more
core   +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

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

Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

Reports
Background and Clinical Significance: We report on an infant with Snijders Blok–Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension.
Luisa Paul, Victoria C. Ziesenitz, Matthias Gorenflo   +2 more
doaj   +1 more source

Reversible ventricular dysfunction in cyanotic heart disease

Indian Heart Journal, 2014
Ventricular dysfunction is a matter of concern for any preoperative cardiac patient. We describe 2 cases of cyanotic congenital heart disease (CCHD) awaiting on pump repair with hypoxia as a cause of ventricular dysfunction. Any Cyanotic Congenital heart
Neeraj Awasthy, S. Radhakrishnan, K.S. Iyer, Rajesh Sharma   +3 more
doaj   +1 more source

Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
core  

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