Results 111 to 120 of about 199,511 (336)

Morphometric brain changes during aging: Results from a Brazilian necropsy sample. [PDF]

open access: yes, 2010
The present study aimed to establish the morphometric brain changes during aging in a necropsy series from Brazil and determine whether sexual dimorphisms interfere in these changes.
Farfel, José Marcelo   +9 more
core   +1 more source

Infant cortex responds to other humans from shortly after birth [PDF]

open access: yes, 2013
A significant feature of the adult human brain is its ability to selectively process information about conspecifics. Much debate has centred on whether this specialization is primarily a result of phylogenetic adaptation, or whether the brain acquires ...
D Maurer   +29 more
core   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong   +10 more
wiley   +1 more source

Hubungan status besi dan ioidum ibu hamil trimester III terhadap berat badan dan lingkar kepala bayi lahir didaerah endemik GAKI

open access: yesJurnal Gizi Indonesia: The Indonesian Journal of Nutrition, 2016
Background: Iodine and iron were micronutrient that highly related with formation of thyroid hormone. Iodine and iron deficiency during pregnancy, will affect fetal development.
Sherly Novitasari   +4 more
doaj   +1 more source

Quantile contours and allometric modelling for risk classification of abnormal ratios with an application to asymmetric growth-restriction in preterm infants

open access: yes, 2019
We develop an approach to risk classification based on quantile contours and allometric modelling of multivariate anthropometric measurements. We propose the definition of allometric direction tangent to the directional quantile envelope, which divides ...
Boghossian, Nansi S.   +3 more
core   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet   +11 more
wiley   +1 more source

Morphometric and Phylogenic Analysis of Six Population Indonesian Local Goats [PDF]

open access: yes, 2011
The research objectives were to characterize morphometric and genetic distance between populations of Indonesian local goats. The morphological discriminant and canonical analysis were carried out to estimate the phylogenic relationship and determine the
Batubara, A. (A)   +4 more
core  

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung   +3 more
wiley   +1 more source

Serum Zinc Level at Term Pregnancy and Newborn Anthropometry

open access: yesIndonesian Journal of Obstetrics and Gynecology, 2015
Objective: To determine the relationship between serum zinc level at term pregnancy and newborn anthropometry. Methods: This study is an observational study with cross-sectional design.
Irma Seriana   +2 more
doaj   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

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