Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. - Wikidata - thesis-toulmin - TriplyDB

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

http://www.wikidata.org/entity/Q33740241

about

Clinical Genetic Aspects of ASD Spectrum Disorders Genetics and genomics of psychiatric disease Characterizing autism spectrum disorders by key biochemical pathways.ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Genomics and autism spectrum disorder Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions The impact of NMDA receptor hypofunction on GABAergic neurons in the pathophysiology of schizophrenia Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Robust regression analysis of copy number variation data based on a univariate score.Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics.De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Clinical report of a 17q12 microdeletion with additionally unreported clinical features.Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.Bio-collections in autism research.Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome Genomics, intellectual disability, and autism Genetic architectures of psychiatric disorders: the emerging picture and its implications.RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.A polygenic burden of rare disruptive mutations in schizophrenia.Common copy number variation detection from multiple sequenced samples An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Translational neuroscience of schizophrenia: seeking a meeting of minds between mouse and man.Genetic association studies of copy-number variation: should assignment of copy number states precede testing?The co-morbidity burden of children and young adults with autism spectrum disorders Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.The genomics of schizophrenia: update and implications.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease Gender identity disorder and schizophrenia: neurodevelopmental disorders with common causal mechanisms?

P2860

Q26769819-76FC9CC3-FF6D-4910-8AFE-21A5A718F5FE Q26781213-420FBFCA-50C5-42FE-9817-B806C094219B Q26781645-47C78956-CA4D-4FBF-8E69-952EB1D0A831 Q26824716-34DA7E7C-4DBC-4292-8080-A513063D6918 Q26862475-1841B4DD-0362-49BB-A559-143FB2A0926B Q27015042-4D752BB5-7ED7-4BB1-BFF0-EAD1B6792122 Q27324674-D1F6699B-E061-411D-B40E-57135D459A61 Q28081110-00E83AD3-DADE-4EAB-A311-BB3FAA740C90 Q28087577-2AD92D9E-1461-4C8D-9DBB-50F966F2012D Q28296286-6ED57CB6-40C7-4376-9E5D-4115FB755081 Q28943293-F72930F7-AAB3-4808-84D4-F4C93B82D062 Q29013643-7329DB2C-EB60-47F0-A320-6594AD3103F9 Q29417060-9DC12F49-318B-498E-9EB1-6B18271350D8 Q30241067-C0F71D07-85D3-418A-9F11-262B4824A359 Q30355076-1770CC3C-C5B6-45E2-A460-3E853E45B560 Q30461208-2AEEC522-99BF-4A43-8841-D28141D1D12F Q30572502-A965A8E3-F91C-4EC2-8591-749F99B7B0F5 Q30754963-C4841C31-93B6-4941-8BDB-89C589C9544D Q31108616-40F002E7-5730-49A2-968F-EE803DE224FA Q33398247-26755A94-0236-42B6-9CD2-F2DE2160D79D Q33581309-DBB34632-058A-4AC4-A807-7D76A94A7591 Q33765966-A3FAD6FB-9336-4BC4-BBA4-BBE4B7099BBA Q33772616-68ADB8CD-BAD2-4405-B7C8-D1A7B5EF0D14 Q33892169-3EB56741-3236-461F-A7ED-C689B47167F6 Q33895060-E31162A9-4DE4-40D7-BED5-5596D7513EE6 Q33937230-E5CA8019-BB75-437A-8CFF-7A4FD39E734D Q33949729-0F4A1C1F-CCF3-4523-BCF5-16DC6FF37632 Q34018852-C071D841-B99C-41A0-A8AE-E4F8BDE4BC6E Q34060200-1E0A20E1-9489-46F2-A2D9-3A67A431E891 Q34196056-AD0BFF4C-2592-4BE4-94B0-F2CBB2AA4A30 Q34208328-5127AB9F-5CA1-4C1A-88C2-69F3BCF24C9B Q34220141-BE54D095-3325-4857-B097-0B8EED078383 Q34228348-D27E0FF3-DB04-4FEF-9375-CB69636EAB9F Q34236692-CEF9BD01-4513-403D-943B-91631E65B0EB Q34249436-FF563B58-EB57-4997-9C53-EA5914DEA69A Q34268189-B07FFE11-790B-44A3-86F4-9B287B821441 Q34381708-7CF97CB5-F22D-4862-BCF7-8580F0F73806 Q34452268-B63B36D3-8E15-4929-B047-C4EF7752A66D Q34472962-5BFAA718-1082-45F6-815A-3873F6877A7D Q34762558-7437FC9C-1A39-4B00-9464-C873BC8886E3

P2860

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

http://www.wikidata.org/entity/Q33740241

description

2010 nî lūn-bûn

@nan

2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@ast

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@en

type

label

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@ast

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@en

prefLabel

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@ast

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@en

P1433

Q33740241-2D9C84AC-D6C2-434D-9A7E-39F130D372E5

P1476

Q33740241-0586A5F8-8835-4923-9123-9980F7625B5E

P2093

Q33740241-039D647E-C599-4E5D-8B0A-F6113DB9546E

Q33740241-0E3D2115-E2AB-4CC3-BAB9-4D068B461D60

Q33740241-11978568-5A30-40EC-B2CA-99E8AFD7DD92

Q33740241-21940FB4-63CC-4089-8678-90E0BFC26CFD

Q33740241-386AE9E1-D03E-4A9F-9870-EAAAD1072EB4

Q33740241-42CE738F-3FBB-41A0-8BD8-549F830FBCB6

Q33740241-4A1F3ACC-E2EF-436A-BFE8-3686ACC0BFE5

Q33740241-4E5F2BA2-BCED-45DD-8FAB-33A0F1CBA6F9

Q33740241-6359DB1B-75B6-4ECD-83EA-972C4F8B09C9

Q33740241-739B25C2-5C18-4FF9-ABEE-487FB92225B9

P2860

Q33740241-01CE469A-07F4-47D2-ABBE-8089B245C044

Q33740241-04ED00D4-907A-4506-BC9E-7837DC0AB604

Q33740241-0730AEBB-ADB7-4C9E-A6BF-CD282992288C

Q33740241-07A10995-416D-4577-80D8-6C61D8ED5AB4

Q33740241-0A196DA4-2794-4511-A690-2FFA48589C55

Q33740241-0B02680D-E4E6-45D3-AF71-061C4C579671

Q33740241-0C6A664D-1D64-4B29-803A-FF3B88EA46FB

Q33740241-0E011A3E-D438-4603-ACE5-304F73300E42

Q33740241-0F19DBD4-572A-428F-9AFF-08C1941634BF

Q33740241-14E0DA6E-B48D-414F-8EC3-6FD80D0EF80E

P304

Q33740241-6366393F-1437-44AD-ABF2-88777AECD852

P31

Q33740241-50FD18C0-27C3-4ABC-875F-3009672BD571

P356

Q33740241-EA9E1544-01BC-4710-B3EE-8C57B5196169

P407

Q33740241-12538DD5-FCCB-44E9-A4EB-E0D81E433B5D

P433

Q33740241-785B4CCE-8B5D-47F3-9A85-791E4D21B9E0

P478

Q33740241-5A9BE6AF-0FCD-40CE-8217-8E294F69DE03

P50

Q33740241-006CD546-153E-457A-BAD2-0C9BBC31E44D

Q33740241-5DD3D761-5802-4864-9F56-57DF09E7D7D3

P577

Q33740241-A58E5257-4057-4AC2-A2B0-ED8C8B0C422D

P5875

Q33740241-8A1DFAA1-D921-402B-9242-8B05E9A86446

P698

Q33740241-5E92396B-B885-44D9-9E61-18B03D7BBA27

P921

Q33740241-CB89C495-D394-44DB-93FF-DD59E58ED151

Q33740241-FB3F73F6-D119-495D-8046-072934E16D36

P932

Q33740241-C67AC7C3-9D2E-42D8-B2C8-4E715CC7A2A1

P356

J.AJHG.2010.10.004

P1433

American Journal of Human Genetics

P1476

Deletion 17q12 is a recurrent ...... k of autism and schizophrenia.

@en

P2093

Amy T Pakula

http://www.w3.org/2001/XMLSchema#string

Arthur R Brothman

http://www.w3.org/2001/XMLSchema#string

Ashadeep Chandrareddy

http://www.w3.org/2001/XMLSchema#string

Bonnie Anne Salbert

http://www.w3.org/2001/XMLSchema#string

Chantal F Morel

http://www.w3.org/2001/XMLSchema#string

Charlotte Boni

http://www.w3.org/2001/XMLSchema#string

Daniel Moreno-De-Luca

http://www.w3.org/2001/XMLSchema#string

David H Ledbetter

http://www.w3.org/2001/XMLSchema#string

Denae M Golden

http://www.w3.org/2001/XMLSchema#string

Diane L Pickering

http://www.w3.org/2001/XMLSchema#string

P2860

Advances in autism genetics: on the threshold of a new neurobiology

Rare chromosomal deletions and duplications increase risk of schizophrenia

Requirement for Lim1 in head-organizer function

A genomewide screen of 345 families for autism-susceptibility loci.

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

Functional impact of global rare copy number variation in autism spectrum disorders

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Common variants conferring risk of schizophrenia

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Strong synaptic transmission impact by copy number variations in schizophrenia.

P304

618-630

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1016/J.AJHG.2010.10.004

http://www.w3.org/2001/XMLSchema#string

P407

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

87

http://www.w3.org/2001/XMLSchema#string

P50

Christa Lese Martin

Daniel Moreno-De-Luca

P577

2010-11-04T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

47699667

http://www.w3.org/2001/XMLSchema#string

P698

21055719

http://www.w3.org/2001/XMLSchema#string

P921

P932

2978962

http://www.w3.org/2001/XMLSchema#string