Results 151 to 160 of about 1,296,296 (311)

Validity and Reliability of Preschool, First and Second Grade Versions of Berkeley Parenting Self-Efficacy Scale

open access: yesIranian Journal of Psychiatry, 2009
Objective: The purpose of this study is to examine the factor structure, internal consistency, and construct validity of preschool, first and second grade versions of Berkeley Parenting self-efficacy scale.
Shahrbanoo Tajeri   +4 more
doaj  

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen   +8 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

The Effect of Maternal Education and Antenatal Care on Basic Immunization Completeness in Children aged 12-23 Months in Asian and African: Meta-Analysis

open access: yes, 2020
Background: Immunization is a process that makes a person immune or immune to infec­tious diseases, usually by administering vacci­nes. A child is said to have received complete basic immunization if he has received one BCG immunization, three DPT-HB-Hib
Widyaningsih, Vitri   +2 more
core  

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

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

Differences in parental childcare contributions and maternal postpartum psychosocial well-being: a cross-sectional study. [PDF]

open access: yesBMJ Public Health
Zhang Y   +16 more
europepmc   +1 more source

Maternal Morbidity in Rural Andhra Pradesh [PDF]

open access: yes
Pregnancy constitutes a high risk of morbidity and mortality due to associated physiological stress. Many women do not die of causes related to pregnancy but suffer severe morbidities.
G. Rama Padma
core  

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

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