Homozygous deletion of Tenascin-R in a patient with intellectual disability

scientific article

Homozygous deletion of Tenascin-R in a patient with intellectual disability is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1136/JMEDGENET-2012-100831
P932PMC publication ID3395313
P698PubMed publication ID22730557
P5875ResearchGate publication ID228064446

P50authorJacques L. MichaudQ102286139
P2093author name stringFadi F Hamdan
Myriam Srour
Jill A Rosenfeld
Beth Torchia
David Dufresne
Bernard Rosenblatt
P2860cites workMutations in SYNGAP1 in autosomal nonsyndromic mental retardationQ24629491
Postnatal development of perineuronal nets in wild-type mice and in a mutant deficient in tenascin-RQ28506992
Severe cognitive and motor coordination deficits in tenascin-R-deficient miceQ28511627
Behavioral alterations in mice deficient for the extracellular matrix glycoprotein tenascin-RQ28584919
Reduced perisomatic inhibition, increased excitatory transmission, and impaired long-term potentiation in mice deficient for the extracellular matrix glycoprotein tenascin-RQ28586377
Tenascin-R mediates activity-dependent recruitment of neuroblasts in the adult mouse forebrainQ28594145
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityQ29144196
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportQ37318122
Genetic and epigenetic networks in intellectual disabilities.Q37930670
Tumor-associated galectin-3 modulates the function of tumor-reactive T cellsQ38572896
Spatiotemporal distribution of tenascin-R in the developing human cerebral cortex parallels neuronal migrationQ39765169
Molecular characterization and in situ mRNA localization of the neural recognition molecule J1-160/180: a modular structure similar to tenascinQ41968622
Activity-dependent formation and functions of chondroitin sulfate-rich extracellular matrix of perineuronal netsQ48197055
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.Q51878678
Localization of janusin mRNA in the central nervous system of the developing and adult mouseQ72656993
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectdisabilityQ12131
homozygosityQ114049690
P304page(s)451-454
P577publication date2012-06-22
P1433published inJournal of Medical GeneticsQ14640281
P1476titleHomozygous deletion of Tenascin-R in a patient with intellectual disability
P478volume49