(Q44196200)

30 November 2017

title

Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia (English)

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30 November 2017

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microdeletion syndrome

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3

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30 November 2017

4

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30 November 2017

5

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30 November 2017

L S Carroll

1

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30 November 2017

H J Williams

series ordinal

2

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30 November 2017

M J Owen

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6

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30 November 2017

language of work or name

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17 August 2011

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

30 November 2017

published in

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30 November 2017

volume

156B

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30 November 2017

issue

7

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30 November 2017

page(s)

844-849

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A method and server for predicting damaging missense mutations

30 November 2017

cites work

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

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Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.

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Microdeletions of 3q29 confer high risk for schizophrenia

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

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The genetics of mental retardation

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

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Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans

21 January 2018

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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

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A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

21 January 2018

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GluR1 controls dendrite growth through its binding partner, SAP97.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.B.31231

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30 November 2017

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