Results 31 to 40 of about 15,137 (146)
Cornelia De Lange Syndrome and Cochlear Implantation [PDF]
Iranian Journal of Otorhinolaryngology, 2018 Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss.
George Psillas +3 more
doaj +1 more source
Journal of Medical Case Reports, 2017 Background Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children.
N. Adadi +8 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dopamine dysregulation syndrome (DDS) is a challenging complication of dopaminergic therapy in Parkinson's disease and can persist despite subthalamic deep brain stimulation (STN‐DBS). We evaluated a temporary bridging concept in which oral dopaminergic medication was replaced by continuous subcutaneous apomorphine infusion while ...
Tobias Binder +8 more
wiley +1 more source
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR
Cell Reports, 2016 NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
Kobe C. Yuen +3 more
doaj +1 more source
Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome [PDF]
Yeungnam University Journal of Medicine, 2018 Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway.
Sang-Jin Park +4 more
doaj +1 more source
Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam +4 more
wiley +1 more source
Nature Communications, 2021 A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure.
Felix D. Weiss +11 more
doaj +1 more source
Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
Prenatal Diagnosis, EarlyView.ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley +1 more source
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
Frontiers in Neurology, 2018 Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing ...
Maura Masciadri +6 more
doaj +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang +8 more
wiley +1 more source