Results 121 to 130 of about 130,235 (310)

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
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Running and Jumping Variables in RD Designs: Evidence Based on Race, Socioeconomic Status, and Birth Weights [PDF]

Throughout the years spanned by the U.S. Vital Statistics Linked Birth and Infant Death Data (1983-2002), birth weights are measured most precisely for children of white and highly educated mothers. As a result, less healthy children, who are more likely
Barreca, Alan, Guldi, Melanie, Lindo, Jason M., Waddell, Glen R.   +3 more
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The Costs of Low Birth Weight [PDF]

Birth weight has emerged as the leading indicator of infant health and welfare and the central focus of infant health policy. This is because low birth weight (LBW) infants experience severe health and developmental difficulties that can impose enormous ...
David S. Lee, Douglas Almond, Kenneth Y. Chay   +2 more
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Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Developing whole-school assessment [PDF]

, 2009
"Getting assessment systems right in schools is not an easy task. We think there are five main challenges to meet, summarised here [in this document].

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NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Alterations in Metabolites Associated With Umbilical Cord Blood in Monozygotic Twins Discordant for Congenital Heart Disease

Pediatric Discovery, EarlyView.
This study found that the metabolomic signature of umbilical venous cord blood in congenital heart disease (CHD) differs from that of healthy monozygotic (MZ) co‐twins. Dysregulation of metabolic pathways like glucose, lipid, and amino acid metabolism, along with altered metabolites, helps understand CHD predisposition.
Fang Xiang, Xiao Yuan, Yi Yang, Philip N. Baker, Mark D. Kilby, Chao Tong, Xi Yuan   +6 more
wiley   +1 more source

Apgar scores for dads

BMJ, 1998
Fathers become anxious during labour and delivery.1 This is especially true for first time dads, who have been observed shouting expletives at anyone wearing booties and a face mask. In the past no one quantified this stress or proposed effective ways to help nervous fathers to be.
openaire   +3 more sources

Food allergies in pregnant women: a study of prevalence in expecting mothers and association with neonatal outcomes [PDF]

, 2013
Thesis (M.A.)--Boston UniversityIntroduction: Food allergies, the second most common form of allergic disorders in Western countries, have been on the rise in the US over the past few decades especially in young children.
Seita, Helene M.
core   +1 more source