Results 61 to 70 of about 413,356 (306)

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

Hidrops fetalis no immune: a propósito de un caso

Anales de la Facultad de Medicina, 2004
Presentamos un caso de hidrops fetalis no inmune por trisomía del par 21, diagnosticado a las 31 semanas de gestación. Mediante cordocentesis y estudio cromosómico de linfocitos se llegó al diagnóstico etiológico de síndrome Down. La paciente reingresó a
Joel Cárdenas, Erasmo Huertas, Ismenia Oré, Semiramis Carbajal   +3 more
doaj  

The Iowa Perinatal Letter, January-February-March 2010, Vol. 31, no. 1 [PDF]

, 2010
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Professionally responsible advocacy for women and children first during the COVID-19 pandemic: guidance from World Association of Perinatal Medicine and International Academy of Perinatal Medicine

, 2020
The goal of perinatal medicine is to provide professionally responsible clinical management of the conditions and diagnoses of pregnant, fetal, and neonatal patients. The New York Declaration of the International Academy of Perinatal Medicine, "Women and
McCullough, Laurence B., Bornstein, Eran, Bornstein, E., Degtyareva, Marina, Chervenak, F. A., Kurjak, Asim, Grünebaum, A., Kurjak, A., Chervenak, Frank A., Degtyareva, M., McCullough, L. B., Sen, Cihat, Stanojevic, Milan, Sen, C., Stanojevic, M., Grunebaum, Amos   +15 more
core   +1 more source

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

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

A structured comparison and reflection on international position statements and professional guidance for the management of periviable infants

Frontiers in Pediatrics
BackgroundSurvival rates and clinical approach to periviable infants are rapidly evolving at certain centres, but there remains variation in definition, approach and management of these infants worldwide.
J. Peterson, J. Peterson, G. Southwood, D. M. Smith, E. D. Johnstone, E. D. Johnstone, A. Mahaveer, A. Mahaveer   +7 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Perinatal Exercise and Cardiovascular Disease Risk

JACC: Advances
The purpose of this narrative review was to summarize perinatal exercise guidelines and associations of perinatal physical activity and/or exercise with cardiovascular disease (CVD) risk.
Marnie K. McLean, MS, Bradley J. Petek, MD, Lidija McGrath, MD, Emily McGill, BS, Abbi D. Lane, PhD   +4 more
doaj   +1 more source

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

Frontiers in Pediatrics, 2019
Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both.
Saima Aslam, Saima Aslam, Tammy Strickland, Tammy Strickland, Tammy Strickland, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy, Eleanor J. Molloy   +9 more
doaj   +1 more source