The developing brain by trimester
Transient anatomical entities play a role in the maturation of brain regions and early
functional fetal networks. At the postmenstrual age of 7 weeks, major subdivisions of the …
functional fetal networks. At the postmenstrual age of 7 weeks, major subdivisions of the …
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program
LF Reissig, AN Herdina, J Rose… - Biology …, 2019 - journals.biologists.com
ABSTRACT The Deciphering the Mechanisms of Developmental Disorders (DMDD)
program uses a systematic and standardised approach to characterise the phenotype of …
program uses a systematic and standardised approach to characterise the phenotype of …
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms
I Di Donato, S Banchi, A Federico… - Current molecular …, 2014 - ingentaconnect.com
Inherited white matter (WM) disorders include a heterogenous group of disorders affecting
brain white matter and associated with myelin, axonal and glial cells or vascular pathology …
brain white matter and associated with myelin, axonal and glial cells or vascular pathology …
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations
AP Adam, KSE Payton… - American Journal of …, 2021 - Wiley Online Library
In this review, we explore evidence that hypoxia in the developing human fetus can lead not
only to the more commonly accepted disruptive‐type defects, but also patterns of anomalies …
only to the more commonly accepted disruptive‐type defects, but also patterns of anomalies …
Gene expression in urinary incontinence and pelvic organ prolapse: a review of literature
I Isali, J Abdeldayem, S El-Nashar - Current Opinion in Obstetrics …, 2020 - journals.lww.com
Gene expression in urinary incontinence and pelvic organ pro... : Current Opinion in
Obstetrics and Gynecology Gene expression in urinary incontinence and pelvic organ …
Obstetrics and Gynecology Gene expression in urinary incontinence and pelvic organ …
MRI pattern approach of adult-onset inherited leukoencephalopathies
P Labauge, C Carra-Dalliere… - Neurology: Clinical …, 2014 - AAN Enterprises
White matter hyperintensities are frequently encountered in clinical practice. In adulthood,
white matter hyperintensities are generally related to acquired disorders, such as vascular …
white matter hyperintensities are generally related to acquired disorders, such as vascular …
Neuro-ophthalmologic manifestations of systemic and intracranial disease
MC Brodsky, MC Brodsky - Pediatric neuro-ophthalmology, 2016 - Springer
This chapter provides dedicated discussion on the intracranial disorders of neuro-
ophthalmologic consequence in children. An integrated approach to these diseases has …
ophthalmologic consequence in children. An integrated approach to these diseases has …
[HTML][HTML] Cold-induced vasodilation response in a Japanese cohort: insights from cold-water immersion and genome-wide association studies
Y Yasukochi, T Sera, T Kohno, Y Nakashima… - Journal of physiological …, 2023 - Springer
Background Cold-induced vasodilation (CIVD) occurs after blood vessels in the skin are
constricted due to local cold exposure. Although many CIVD studies have been conducted …
constricted due to local cold exposure. Although many CIVD studies have been conducted …
Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology
I Donner, LJ Sipilä, RM Plaketti, A Kuosmanen… - …, 2022 - journals.sagepub.com
Background Visceral artery aneurysms (VAAs) can be fatal if ruptured. Although a relatively
rare incident, it holds a contemporary mortality rate of approximately 12%. VAAs have …
rare incident, it holds a contemporary mortality rate of approximately 12%. VAAs have …
Novel heterozygous COL4A2 variant c. 2572A> G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome
JK Focke, R Veltkamp, P Bauer, M Kraemer - Journal of Neurology, 2022 - Springer
Discussion The reported case shows a COL4A2 variant (c. 2572A> G) to be associated with
phenotypic features of DVBS. DVBS and SS are non-inflammatory vasculopathies with a …
phenotypic features of DVBS. DVBS and SS are non-inflammatory vasculopathies with a …