[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 …
…, A Orrico, LB Ousager, AL Collins, EK Bijlsma… - 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 …
related members of the neurexin superfamily, have been repeatedly associated with a wide …
[PDF][PDF] Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
…, I Göhring, K Devriendt, T De Ravel, EK Bijlsma… - 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 molecular …
by mental retardation, wide mouth, and intermittent hyperventilation. By molecular …
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
…, P Strømme, DJ Dlugos, ES Doherty, EK Bijlsma… - 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 …
the NMDA receptor subunit GluN1 and to investigate their underlying functional …
Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
…, CAL Ruijvenkamp, T Dijkhuizen, EK Bijlsma… - 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 15q11.…
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the 15q11.…
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 …
…, H Engels, H Sticht, E Wohlleber, EK Bijlsma… - 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 severe …
within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe …
[PDF][PDF] Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease
…, CM Nguyen, B Trost, F Richards, EK Bijlsma… - The American Journal of …, 2019 - cell.com
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …
[HTML][HTML] Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
…, EK Bijlsma, AB Ekici, H Engels, K Hackmann… - BMC medical …, 2011 - Springer
Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1
have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as …
have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as …
[HTML][HTML] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
…, JJ Wesselink, S Lusa‐Bernal, EK Bijlsma… - Human …, 2015 - Wiley Online Library
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure,
intellectual disability, limb malformations, and multiple organ involvement. Mutations in five …
intellectual disability, limb malformations, and multiple organ involvement. Mutations in five …
[PDF][PDF] Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome
…, SJA Beekmans, N Den Hollander, EK Bijlsma… - The American Journal of …, 2015 - cell.com
Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence
of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. …
of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. …