Pathogenesis of diabetes-induced congenital malformations

UJ Eriksson, LA Håkan Borg, J Cederberg… - Upsala journal of …, 2000 - Taylor & Francis
The increased rate of fetal malformation in diabetic pregnancy represents both a clinical
problem and a research challenge. In recent years, experimental and clinical studies have …

Clinical variability of the 22q11. 2 duplication syndrome

C Wentzel, M Fernström, Y Öhrner, G Annerén… - European journal of …, 2008 - Elsevier
The 22q11. 2 duplication syndrome is an extremely variable disorder with a phenotype
ranging from normal to learning disability and congenital defects. Both patients with a de …

Mutations in HECW2 are associated with intellectual disability and epilepsy

J Halvardson, JJ Zhao, A Zaghlool, C Wentzel… - Journal of medical …, 2016 - jmg.bmj.com
Background De novo mutations are a frequent cause of disorders related to brain
development. We report the results of screening patients diagnosed with both epilepsy and …

Induction of embryonic dysmorphogenesis by high glucose concentration, disturbed inositol metabolism, and inhibited protein kinase C activity

P Wentzel, CR Wentzel, MB Gäreskog… - Teratology, 2001 - Wiley Online Library
Background Exposure to a diabetic environment causes excess reactive oxygen species
(ROS), decreased prostaglandin E2 (PGE2) concentration, and increased embryonic …

Interstitial Deletions at 6q14. 1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

C Wentzel, SA Lynch, EL Stattin, FH Sharkey… - Molecular …, 2010 - karger.com
Background: Interstitial deletions of the long arm of chromosome 6 have been described in
several patients with obesity and a Prader-Willi-like phenotype. Haploinsufficiency of the …

[HTML][HTML] Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

C Wentzel, E Rajcan-Separovic… - European journal of …, 2011 - nature.com
With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced
rearrangements in patients with syndromic developmental delay has improved considerably …

[HTML][HTML] The atypical sphingolipid SPB 18: 1 (14Z); O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

AJ Hülsmeier, SP Toelle, P Bellstedt, C Wentzel… - Journal of Lipid …, 2023 - ASBMB
Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular
physiology and neuronal development and function. Defects in the sphingolipid metabolism …

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

C Wentzel, G Annerén, AC Thuresson - European Journal of Medical …, 2014 - Elsevier
Here we report a case of two siblings with reciprocal aberrations, one presenting with a
deletion and the other carrying two novel duplications at 6q13q16. 1. Interestingly, both …

Does High Glucose Concentration Alter iInositol Availability, PKC Activity, Phospolipase A2 Gene Expression or NF-kB Activation in Embryos?

P WENTZEL, J CEDERBERG, C WENTZEL… - Diabetes, 2000 - go.gale.com
Earlier studies have indicated that exposure to a diabetic environment causes excess
reactive oxygen species (ROS), decreased prostaglandin E2 (PGE2) concentration, and …

[HTML][HTML] Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

C Wentzel - 2013 - diva-portal.org
Intellectual disability (ID) also referred to as mental retardation (MR) is a variable and
heterogeneous manifestation of central nervous system dysfunction, affecting approximately …