Results 241 to 250 of about 75,135 (297)

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

open access: yesAmerican 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   +31 more
wiley   +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

open access: yesAmerican 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   +10 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source
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Prostaglandins and parturition

Reproduction, Fertility and Development, 1995
It seems likely that prostaglandins play a significant part in the mechanisms of parturition both at term and preterm. Concentrations of prostaglandins are increased in the blood, urine and amniotic fluid during labour. There are differences in the concentrations of prostaglandins in amniotic fluid from the forebag and hindbag.
Mitchell, M.D.   +3 more
openaire   +4 more sources

Endocrinology of Parturition

Endocrinology and Metabolism Clinics of North America, 2006
Reproductive success is critical for survival of the species. The timely onset of labor and delivery is an important determinant of perinatal outcome. Both preterm birth (defined as delivery before 37 weeks' gestation) and post-term pregnancy (defined as pregnancy continuing beyond 42 weeks) are associated with a significant increase in perinatal ...
Victoria, Snegovskikh   +2 more
openaire   +2 more sources

Propranolol and Parturition

Obstetrics & Gynecology, 1978
Propranolol is a beta-adrenergic blocking drug with a wide spectrum of use and may diverse pharmacologic effects. This case report is an example of a parturient who was on a large dose of propranolol for idiopathic hypertrophic subaortic stenosis. The effects of this drug on pregnancy, labor, and above all, the fetus are discussed.
S, Datta   +3 more
openaire   +2 more sources

PARTURITION IN THE RABBIT

Journal of Endocrinology, 1969
Abstract Intra-uterine pressure changes have been successfully recorded in ewes in late pregnancy and during parturition using endoradiosondes (Hindson, Schofield, Turner & Wolff, 1965; Hindson, Schofield & Turner, 1968). This device is superior to intra-uterine balloons, for the sonde is not fixed in the uterine cavity and ...
openaire   +2 more sources

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