Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. - Wikidata - wikimedia - TriplyDB

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

http://www.wikidata.org/entity/Q37496956

about

Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Functional genomics of human brain development and implications for autism spectrum disorders Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders The effects of aging on the BTBR mouse model of autism spectrum disorder.The value of regenotyping older linkage data sets with denser marker panels.Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress Horizons of psychiatric genetics and epigenetics: where are we and where are we heading?The N-ethylmaleimide-sensitive factor and dysbindin interact to modulate synaptic plasticity.Dynein and intraflagellar transport.Excess of rare, inherited truncating mutations in autism.Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.Next Generation Sequencing and Health Technology Assessment in Autism Spectrum Disorder.FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology Examining social competence, self-perception, quality of life, and internalizing and externalizing symptoms in adolescent females with and without autism spectrum disorder: a quantitative design including between-groups and correlational analyses.Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.Family studies to find rare high risk variants in migraine.Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry Fat3 and Ena/VASP proteins influence the emergence of asymmetric cell morphology in the developing retina Autism and epilepsy: A population-based nationwide cohort study.Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.Functions of the Alzheimer's Disease Protease BACE1 at the Synapse in the Central Nervous System.Dynamic Partitioning of Synaptic Vesicle Pools by the SNARE-Binding Protein Tomosyn.Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies.Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism.Epigenetics of Autism Spectrum Disorder.Genetic Variants Within Key Nodes of the Cascade of Antipsychotic Mechanisms: Effects on Antipsychotic Response and Schizophrenia Psychopathology in a Naturalistic Treatment Setting in Two Independent Korean and Italian Samples.Genetic Studies in Autism.Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry.Autism genetics - an overview.Challenges for females with high functioning autism in the workplace: a systematic review.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.A Putative Blood-Based Biomarker for Autism Spectrum Disorder-Associated Ileocolitis.Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

P2860

Q26744368-9CD14FCA-2584-4928-B85E-BB00434E980E Q26768144-A1DA87BB-B136-4D1D-A18D-0BEE7529AF0A Q26778520-58EE9D2A-AE3D-4EA3-A9D8-C841275F91BD Q27301001-3DFA2359-3A9D-4F79-9D7D-39AFE6A69B41 Q28079929-7E0FB31A-8487-4F97-9839-EDB03C00B4EE Q28396166-A19988E9-E120-4910-B72C-D62550A57070 Q30586703-80D15AE5-2D48-4C1E-A97D-5B4EED6D9AB3 Q30833563-F44B9D2C-898A-4B8B-8CCF-00C3A1E64386 Q30843318-AFD01BD1-7E03-43AF-BF0B-9B3B15B0A32F Q35177686-F75FC5F0-5BA1-439A-A7F7-6A3C644E8F31 Q35598755-C17A1DCF-AAA6-49D1-B364-8082976B6E24 Q35612985-0B2C49E4-9B02-44C9-BAB3-374246E416D6 Q35665894-C677ADD7-7D64-4064-9FD6-73E9844393C8 Q35857541-997FE9A7-B04F-4363-9F7E-BF58D084E839 Q35927955-E9943FDF-89DC-46EC-A244-5E00204DFD7B Q36023686-D9E39836-438C-4473-BB70-120CCB858376 Q36043750-FABB41C2-8FB4-47F6-B5FB-915BDA7C0F62 Q36060885-403329BB-751D-4895-A700-FC9040A2A152 Q36071834-788E1137-5802-4350-B2CC-527A4D594607 Q36083196-C49CD63A-8B30-4661-826B-33D2F2C0FE6D Q36296198-C5C509AC-E559-4E09-8876-62D2CBCF8000 Q36489457-85F04349-CAC5-473D-9F16-D747B2C6A5D6 Q36562426-248C1F39-90E4-45A7-9902-94BFA340D256 Q37036240-C9E51358-4EA8-4B66-8319-BA4684011698 Q37082939-55384B09-2FAA-4FEF-AD2A-BAD07CAEBEAD Q37307656-F457D882-19BE-461E-816A-A27645039836 Q37329676-5D1FFF26-0B8D-4BB6-A896-68AEAFE0EB92 Q37490408-5CEDB6E9-C1D6-45CA-ACEA-3CFF3AD4AEB0 Q38596601-6AB76EF4-93C1-4DBB-B33A-A758C74A2FAB Q38613638-4040DF78-1897-4077-8B66-668FC17E5A9F Q38681930-E2EBD6EB-9296-4E0E-A354-9BFC2FF79BA6 Q38783824-5E4B63C7-AF31-4A13-9FEF-B781D10C9D60 Q38900958-BD23437A-FD2D-4F15-96E4-7355ADEC1FCB Q38917986-6781D114-EBD4-4E8C-A638-A0AF271B5021 Q38981431-B5938D96-8221-4ACF-A0CF-311C59A04DB9 Q39031752-318C4E4F-7B09-49D7-9752-08C687C6A447 Q39646857-2148E65C-26B3-4151-A531-A7D5D71291F8 Q40599532-435D7E31-B247-4B69-8C96-FDA26B71A1A5 Q41523753-DC17C237-69FC-4D50-83FE-611FA32AB0AB Q41694710-E541A76C-BD70-4628-A8AA-F9C44415680C

P2860

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

http://www.wikidata.org/entity/Q37496956

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 10 January 2014

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@en

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@nl

type

label

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@en

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@nl

prefLabel

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@en

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@nl

P1433

Q37496956-BB31703D-35F6-4B9A-A54F-CE97CDE01ED9

P1476

Q37496956-BF73D16C-E20F-43ED-80FA-9ACBD50CDB55

P2093

Q37496956-0C813D7F-E511-49D5-B3BC-2F6F108A6ED0

Q37496956-19115280-FF48-4483-85AA-C2ED4FF4FED9

Q37496956-1F6343C1-6E27-445E-B6D8-F034DF061639

Q37496956-2741BBFD-CA9D-43AE-BD11-84CD9A17C352

Q37496956-89D013DA-B873-408A-8430-D3E330C7BB90

Q37496956-93B3E091-5856-4677-9287-083E4208330F

Q37496956-93BF07FD-A76D-4881-BF12-D4D0A31EB738

Q37496956-A99A5519-8455-48A4-9490-C55BDBB568BA

Q37496956-AAFC6B27-CE22-4F7D-9790-33D4F19F6284

Q37496956-BC7781BA-CBA6-4C29-AE51-C9BB22E01E34

P2860

Q37496956-004125BE-63E8-4D67-BACD-807253C62011

Q37496956-057554A0-4C0D-4DEA-8716-EB19E30653F7

Q37496956-079C7C39-54C9-45E0-BED0-CA75DE0BDD93

Q37496956-0876BC29-1A20-4A06-9397-8513900ED724

Q37496956-09C15D64-9F88-4A53-B759-6D817F900DC6

Q37496956-0BFD03FB-5DF2-4730-AB6A-39F8D28A5108

Q37496956-146BC59E-966B-4586-9B67-F95DD40D3722

Q37496956-18B2922B-9211-4C66-B789-6089336DC030

Q37496956-197DC653-B093-4500-B904-2EB51E7EA9FC

Q37496956-19ABA6A7-C5A4-4847-858E-9E26605B657F

P2888

Q37496956-E7EBF317-EA92-4E25-8181-CFFE9EECDE3E

P304

Q37496956-64A465C9-E15F-4B86-BDE5-DD473094FBC5

P31

Q37496956-A2D30FEE-BFF4-48A7-8611-3CA3BBFCCF22

P356

Q37496956-B9A6B710-432B-476A-944B-9DCD0C51E6DF

P433

Q37496956-2E6124C5-8630-4326-8E50-709E159C7572

P478

Q37496956-47AA508B-07C4-45FC-BDA2-16A4C513F905

P50

Q37496956-27497D6D-B044-4984-A2A5-99C05DC979C4

Q37496956-95DAD99F-5EB8-4CF4-A38E-07F5A42BA567

Q37496956-C5D62751-A4B8-436F-8EF6-CD205A00E388

P577

Q37496956-5299E14C-7D69-42DC-A10B-47E56E76A51B

P5875

Q37496956-185E351D-7C0F-4A0C-8A0D-95586F98576C

P6179

Q37496956-0CA00D07-F3F6-4BAD-A763-4D4DBDC83D83

P698

Q37496956-83124865-926D-4AE1-BC82-DC54C09AF66A

P921

Q37496956-EB748B70-62CE-4EC5-A7D4-A7CB40E1206A

P932

Q37496956-AC1DB85C-835B-432E-8585-88BE8572BD42

P356

P1433

Molecular Autism

P1476

Exome sequencing of extended f ...... nd neuropsychiatric disorders.

@en

P2093

Derek Van Booven

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

Eden R Martin

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

Eminisha Lalanne

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

Ioanna Konidari

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

John R Gilbert

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

Joycelyn M Lee

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

Michael A Schmidt

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

Michael L Cuccaro

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

Natalia K Hofmann

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

Natalia Leyva

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

P2860

Neurotensin is an antagonist of the human neurotensin NT2 receptor expressed in Chinese hamster ovary cells

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

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

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Exome sequencing identifies the cause of a mendelian disorder

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

P2888

P304

1

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

P31

scholarly article

P356

10.1186/2040-2392-5-1

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

P433

1

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

P478

5

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

P50

Margaret A. Pericak-Vance

Jonathan L Haines

P577

2014-01-10T00:00:00Z

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

P5875

259697027

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

P6179

1001670960

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

P698

24410847

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

P921

P932

3896704

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