Genetic causes of craniosynostosis: an update
JAC Goos, IMJ Mathijssen - Molecular syndromology, 2019 - karger.com
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this
discovery, the genetic causes of the most common syndromes have been described. In …
discovery, the genetic causes of the most common syndromes have been described. In …
Chromosomal microarrays: understanding genetics of neurodevelopmental disorders and congenital anomalies
JA Rosenfeld, A Patel - Journal of pediatric genetics, 2017 - thieme-connect.com
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations
(CNVs), has helped advance knowledge about genetics of human neurodevelopmental …
(CNVs), has helped advance knowledge about genetics of human neurodevelopmental …
An Island‐hopping bird reveals how founder events shape genome‐wide divergence
When populations colonize new areas, both strong selection and strong drift can be
experienced due to novel environments and small founding populations, respectively …
experienced due to novel environments and small founding populations, respectively …
Astroglial-mediated remodeling of the interhemispheric midline is required for the formation of the corpus callosum
The corpus callosum is the major axon tract that connects and integrates neural activity
between the two cerebral hemispheres. Although∼ 1: 4,000 children are born with …
between the two cerebral hemispheres. Although∼ 1: 4,000 children are born with …
Inferences of genetic architecture of bill morphology in house sparrow using a high‐density SNP array point to a polygenic basis
Understanding the genetic architecture of quantitative traits can provide insights into the
mechanisms driving phenotypic evolution. Bill morphology is an ecologically important and …
mechanisms driving phenotypic evolution. Bill morphology is an ecologically important and …
Prenatal exome sequencing in fetuses with callosal anomalies
T Lei, Q She, F Fu, L Zhen, R Li, Q Yu… - Prenatal …, 2022 - Wiley Online Library
Objective We aimed to investigate the value of exome sequencing (ES) in fetuses with
callosal anomalies (CA) with or without other structural anomalies, but with normal findings …
callosal anomalies (CA) with or without other structural anomalies, but with normal findings …
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
The nuclear factor I (NFI) family of transcription factors play an important role in normal
development of multiple organs. Three NFI family members are highly expressed in the …
development of multiple organs. Three NFI family members are highly expressed in the …
Interstitial deletions of chromosome 1p: novel 1p31. 3p22. 2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic …
Background Rearrangements of unstable DNA sequences may alter the structural integrity
or the copy number of dose-sensitive genes, resulting in copy number variations. They may …
or the copy number of dose-sensitive genes, resulting in copy number variations. They may …
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
V Bertini, F Cambi, A Orsini, A Bonuccelli, A Fiorini… - Genes, 2022 - mdpi.com
The NFIA (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear
factor I family and has key roles in various embryonic differentiation pathways. In humans …
factor I family and has key roles in various embryonic differentiation pathways. In humans …
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
E Tønne, BJ Due‐Tønnessen… - American Journal of …, 2022 - Wiley Online Library
Craniosynostosis (CS) is a common congenital anomaly defined by premature fusion of one
or more cranial sutures. Syndromic CS involves additional organ anomalies or …
or more cranial sutures. Syndromic CS involves additional organ anomalies or …