Diagnostic genetic testing for Huntington's disease

D Craufurd, R MacLeod, M Frontali, O Quarrell… - Practical …, 2015 - pn.bmj.com
Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by a
combination of motor abnormalities (chorea, dystonia, hypokinesia), cognitive impairment …

[PDF][PDF] CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in …

C Zweier, EK de Jong, M Zweier, A Orrico… - The American Journal of …, 2009 - cell.com
Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly
related members of the neurexin superfamily, have been repeatedly associated with a wide …

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

M Zollino, C Zweier, ID Van Balkom… - Clinical …, 2019 - Wiley Online Library
Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by
intellectual disability, specific facial features, and marked autonomic nervous system …

[PDF][PDF] Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

C Zweier, MM Peippo, J Hoyer, S Sousa… - The American Journal of …, 2007 - cell.com
Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology
characterized by mental retardation, wide mouth, and intermittent hyperventilation. By …

Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals

EK Bijlsma, ACJ Gijsbers… - European journal of …, 2009 - Elsevier
Array CGH (comparative genomic hybridization) screening of large patient cohorts with
mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the …

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz… - Neurology, 2016 - AAN Enterprises
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

C Rosenberg, J Knijnenburg, E Bakker… - Journal of medical …, 2006 - jmg.bmj.com
Background: The underlying causes of mental retardation remain unknown in about half the
cases. Recent array-CGH studies demonstrated cryptic imbalances in about 25% of patients …

Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M Doornbos, B Sikkema-Raddatz… - European journal of …, 2009 - Elsevier
Behavioural differences have been described in patients with type I deletions (between
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the …

Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

CM Bilardo, MA Müller, E Pajkrt, SA Clur… - … in obstetrics & …, 2007 - Wiley Online Library
Objectives To study the outcome of pregnancy in chromosomally normal fetuses with
increased nuchal translucency thickness (NT), with respect to fetal loss, structural defects …

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 …

M Zweier, A Gregor, C Zweier, H Engels… - Human …, 2010 - Wiley Online Library
The etiology of mental retardation remains elusive in the majority of cases. Microdeletions
within chromosomal bands 5q14. 3q15 were recently identified as a recurrent cause of …