Search Results - "Byrne, Janice L. B"
-
1
Applying citizen science to engage families affected by ovarian cancer in developing genetic service outreach strategies
Published in PloS one (14-02-2022)“…Citizen science (CS) approaches involving non-professional researchers (citizens) as research collaborators has been used infrequently in health promotion…”
Get full text
Journal Article -
2
Analysis of skeletal dysplasias in the Utah population
Published in American journal of medical genetics. Part A (01-05-2012)“…The Utah Birth Defect Network (UBDN) collects population‐based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and…”
Get full text
Journal Article -
3
Etiology and clinical presentation of birth defects: population based study
Published in BMJ (Online) (30-05-2017)“…Objective To assess causation and clinical presentation of major birth defects.Design Population based case cohort.Setting Cases of birth defects in children…”
Get full text
Journal Article -
4
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies
Published in American journal of medical genetics. Part A (01-08-2012)“…Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal…”
Get full text
Journal Article -
5
Comparison of current to past outcomes in congenital diaphragmatic hernia using MRI observed-to-expected total fetal lung volume
Published in Journal of perinatology (01-09-2024)“…Background Fetal Centers use imaging studies to predict congenital diaphragmatic hernia (CDH) prognosis and the need for fetal therapy. Given improving CDH…”
Get full text
Journal Article -
6
Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011
Published in American journal of medical genetics. Part A (01-02-2016)“…Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5–35% of cases depending on…”
Get full text
Journal Article -
7
Admission to a Dedicated Cardiac Intensive Care Unit Is Associated With Decreased Resource Use for Infants With Prenatally Diagnosed Congenital Heart Disease
Published in Pediatric cardiology (01-12-2014)“…Many factors in the delivery and perinatal care of infants with a prenatal diagnosis of congenital heart disease (CHD) have an impact on outcome and costs…”
Get full text
Journal Article -
8
Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement
Published in The journal of clinical endocrinology and metabolism (01-09-2008)“…Context: Hypophosphatasia (HPP) is a heritable metabolic disorder of the skeleton that includes variable expressivity conditioned by gene dosage effect and the…”
Get full text
Journal Article -
9
Langman's medical embryology: T.W. Sadler ; computer illustrations by Susan L. Sadler-Redmond ; scanning electron micrographs by Kathy Tosney ; ultrasound images by Jan Byrne and Hytham Imseis
Published 2019“…"Every student will be affected by pregnancy, either their mother's, because what happens in the womb does not necessarily stay in the womb, or by someone…”
Get more information
Book -
10
Group A streptococcal puerperal sepsis: initial characterization of virulence factors in association with clinical parameters
Published in Journal of reproductive immunology (01-10-2009)“…Abstract Group A β-hemolytic streptococcus (GAS) is an uncommon but potentially fatal source of postpartum infection. Pathogenesis in invasive GAS infections…”
Get full text
Journal Article -
11
Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations
Published in Radiographics (01-05-2005)“…Schizencephaly is a rare malformation of the central nervous system. Prenatal ultrasound (US) allows diagnosis of schizencephaly, although prenatal magnetic…”
Get full text
Journal Article -
12
Stillbirth at term
Published in Obstetrics and gynecology (01-08-2006)Get full text
Journal Article Conference Proceeding -
13
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
Published in American journal of medical genetics. Part A (01-12-2007)“…We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the…”
Get full text
Journal Article -
14
Barriers to Sonographer Screening for Fetal Heart Defects: A U.S. National Survey
Published in Fetal diagnosis and therapy (01-03-2020)“…We surveyed obstetric sonographers, who are at the forefront of the screening process to determine how barriers to prenatal cardiac screening impacted…”
Get more information
Journal Article -
15
Etiology and Clinical Presentation of Birth Defects: Population Based Study
Published in Obstetrical & gynecological survey (01-10-2017)“…(Abstracted from BMJ 2017;357:j2249)Major birth defects occur in 1 in 33 births and are the leading cause of infant mortality in the United States. Birth…”
Get full text
Journal Article -
16
Risk factors for Dandy-Walker malformation: A population-based assessment
Published in American journal of medical genetics. Part A (01-09-2015)“…Dandy–Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes…”
Get full text
Journal Article -
17
Velamentous Cord Insertion With Variable Umbilical Cord Doppler Changes
Published in Journal of ultrasound in medicine (01-11-2014)Get full text
Journal Article -
18
Seven‐week embryo with gastroschisis, multiple anomalies, and physiologic hernia suggests early onset of gastroschisis
Published in Birth defects research. A Clinical and molecular teratology (01-04-2008)“…Gastroschisis is an increasingly common birth defect involving the development of the ventral body wall. Extrusion of the bowel is usually paraumbilical,…”
Get full text
Journal Article -
19
Clinical considerations in gastroschisis: Incremental advances against a congenital anomaly with severe secondary effects
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15-08-2008)“…Gastroschisis is one of the most challenging congenital anomalies that physicians treat in the first 2 months of life. Over the last 40 years, tremendous…”
Get full text
Journal Article -
20
Reliability of fetal middle cerebral artery velocity measurements: a randomized controlled trial of sonographer training
Published in Journal of ultrasound in medicine (01-01-2009)“…The purpose of this study was to determine the reliability of fetal middle cerebral artery (MCA) peak systolic velocity (PSV) measurements at a tertiary care…”
Get full text
Journal Article