A Forward Genetic Screen in Mice Identifies Mutants with Abnormal Cortical Patterning [PDF]
, 2015 Formation of a 6-layered cortical plate and axon tract patterning are key features of cerebral cortex development. Abnormalities of these processes may be the underlying cause for a range of functional disabilities seen in human neurodevelopmental ...
Andersen +72 more
core +1 more source
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, Volume 40, Issue 3, Page 414-425, March 2026.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
Complexity of cis-regulatory organization of six3a during forebrain and eye development in zebrafish [PDF]
, 2010 [[abstract]]ABSTRACT: BACKGROUND: Six3a belongs to the SIX family of homeodomain proteins and is expressed in the most anterior neural plate at the beginning of neurogenesis in various species.
Chung-Hao Chao +2 more
core +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
The neonate was born with holoprosencephaly [PDF]
Iranian Journal of Neonatology, 2014 holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies.
reza saeidi, abdolhosein abasi
doaj +1 more source
Smooth muscle fascicular reorientation is required for esophageal morphogenesis and dependent on Cdo. [PDF]
, 2013 Postnatal maturation of esophageal musculature involves proximal-to-distal replacement of smooth muscle with skeletal muscle by elusive mechanisms. We report that this process is impaired in mice lacking the cell surface receptor Cdo and identify the ...
Anthony I. Romer +40 more
core +2 more sources
Journal of Comparative Neurology, Volume 534, Issue 2, February 2026.The parcellation of cortical types along the gradient of laminar complexity of the human cerebral cortex provides the basis for a Modern Neurodevelopmental Synthesis. This synthesis integrates ontogeny, phylogeny, gene expression, receptor architecture, cellular features, and synaptic connectivity and aims to guide experimental design for human ...
Josefa Zaldivar‐Diez +1 more
wiley +1 more source
Chromosomal map of human brain malformations [PDF]
, 2018 The etiology of most central nervous system (CNS) malformations remains unknown. We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci.
Lurie, Iosif +2 more
core
Translational genetic modelling of 3D craniofacial dysmorphology: elaborating the facial phenotype of neurodevelopmental disorders through the prism of schizophrenia [PDF]
, 2017 Purpose of Review: In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial dysmorphology as a clinically accessible index of brain ...
Bowman, Adrian W. +3 more
core +1 more source
The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109293/1/dvdy24186 ...
Ali +49 more
core +2 more sources