Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
about
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome ResearchCHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injuryA mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brainInvestigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorderIntragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT)The human clinical phenotypes of altered CHRNA7 copy number15q13.3 duplication in two patients with childhood-onset schizophrenia.Progress in Genetic Studies of Tourette's Syndrome.
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P2860
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
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name
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@en
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@nl
type
label
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@en
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@nl
prefLabel
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@en
Microduplication of 15q13.3 an ...... te syndrome and comorbidities.
@nl
P2093
P2860
P50
P356
P1476
Microduplication of 15q13.3 an ...... tte syndrome and comorbidities
@en
P2093
Birgitte Bertelsen
Camilla Groth
Jens D Mikkelsen
Karen Brøndum-Nielsen
Linea Melchior
P2860
P304
P356
10.1002/AJMG.B.32186
P577
2013-07-27T00:00:00Z