Results 121 to 130 of about 49,640 (282)

Autosomal dominant microcephaly.

open access: yes, 1983
Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis.
CLEMENTI, MAURIZIO, Audino G., Tenconi R
core  

Case report: microcephaly associated with Zika virus infection, Colombia

open access: yes, 2017
Background: Recently there has been a large outbreak of Zika virus infections in Colombia, South America. The epidemic began in September 2015 and continued to April 2017, for the total number of Zika cases reported of 107,870.
Gerhke, Lee   +9 more
core   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock   +5 more
wiley   +1 more source

Molecular basis of autosomal recessive primary microcephaly

open access: yes, 2015
Autosomal recessive primary microcephaly (MCPH) is a genetically very heterogeneous disorder, mainly characterized by severe microcephaly at birth, mental retardation of variable extent in the absence of any additional significant neurological findings ...
Wollnik, Bernd   +2 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

open access: yesPediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil   +2 more
wiley   +1 more source

Scenario‐Based Guidance for International Growth Standards (GIGS): For Whom, When, and How to Apply the INTERGROWTH‐21st and WHO Child Growth Standards

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To demonstrate when, for whom, and how to apply the INTERGROWTH−21st (IG‐21st) and WHO Child Growth Standards (WHO GS) using a scenario‐based approach with illustrations utilising a sub‐set of data from a multi‐country low birthweight infant prospective cohort.
Eric O. Ohuma   +4 more
wiley   +1 more source

Adaptive evolution of microcephaly genes.

open access: yes, 2019
The human brain is dramatically enlarged compared to our closest relatives. Brain expansion is closely linked to the evolution of complex behaviour and cognition in hominins.
Stephen H Montgomery   +1 more
core   +1 more source

Implications for Newborn and Child Growth Classification Using INTERGROWTH‐21st and WHO Child Growth Standards

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective The aim of this study was to assess how the use of the WHO Child Growth Standards (WHO GS) and the INTERGROWTH‐21st Standards (IG‐21st) affect the classification and interpretation of growth trajectories. Design A secondary data analysis of an observational cohort study.
Linda Vesel   +5 more
wiley   +1 more source

Insights from a six‐year hair drug analysis compendium in drug‐facilitated crimes involving vulnerable population cases

open access: yesJournal of Forensic Sciences, EarlyView.
Abstract Hair analysis is a well‐established matrix in forensic toxicology, offering a valuable alternative or complement to traditional matrices in diverse contexts, including drug‐facilitated crimes (DFC), elder abuse, and accidental exposure in children.
Amandine Fort   +8 more
wiley   +1 more source

Expected microcephaly cases for Latin America and the Caribbean.

open access: yes, 2016
The expected microcephaly cases depend on the attack rate, the birth rate, the population size, the non-Zika related microcephaly incidence, and the probability of microcephaly given a Zika infection in the first trimester of pregnancy.
Durland Fish (362923)   +10 more
core   +1 more source

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