Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability - Test2 - elhamkhani - TriplyDB

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

http://www.wikidata.org/entity/Q28257488

about

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome CNV and nervous system diseases--what's new?Strong association of de novo copy number mutations with autism Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Functional MAPT haplotypes: bridging the gap between genotype and neuropathology Evolutionary toggling of the MAPT 17q21.31 inversion region The role of neuronal complexes in human X-linked brain diseases Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders The role of tau in neurodegenerative diseases and its potential as a therapeutic target Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER The distribution and most recent common ancestor of the 17q21 inversion in humans Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Reduced purifying selection prevails over positive selection in human copy number variant evolution Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size A copy number variation morbidity map of developmental delay The CRF system, stress, depression and anxiety-insights from human genetic studies.Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Identification of de novo copy number variants associated with human disorders of sexual development.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.The origins and impact of primate segmental duplications.Inversion variants in the human genome: role in disease and genome architecture From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Recent insights into the molecular genetics of dementia The functional impact of structural variation in humans.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Genomics, intellectual disability, and autism The role of rare structural variants in the genetics of autism spectrum disorders.Benign copy number changes in clinical cytogenetic diagnostics by array CGH A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk Online resources for genomic structural variation An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

P2860

Q24567711-826CB894-5CC9-43F5-ABE8-9DC43FEBCD00 Q24624737-61672D71-17FE-43D0-8F54-19ECC906BC8E Q24629022-CD18A561-3B5D-416E-9592-2186CD997277 Q24630191-5D2BF17D-9277-488D-8B45-C134BE8F35F4 Q24632941-1DED841B-B6B6-4823-9FBA-9EE3FA941018 Q24633543-9984250C-65BF-4EA1-B9E2-B1749BCFFFB1 Q24633748-5EF536AB-C4DC-4625-8DBC-8E9FD811964E Q24644530-17FA69BE-B771-4D75-93AB-088FC1EF41A9 Q24651392-F0D5DB9F-FE4C-4CAA-9401-3AD383A61335 Q24658093-F5EED960-C248-426C-AB47-D4777633D09D Q24680472-D230418B-0A43-4635-AC66-3E18B9C9E7A0 Q24682812-2A97DEA8-EB89-4466-B862-5893D9634433 Q26994958-40AD4AE0-FACE-4FEA-B8F1-FC1A5F407862 Q27005032-818438D1-2013-4167-826F-0576344F729F Q28293141-C16ABAB0-1C1D-4055-9FF4-6374F29D6C16 Q28604234-A5D9C37E-47EA-4B85-9D4F-EFB0223E1DFC Q28748948-5AA12F41-651F-46BE-BBD4-BD911A9B95E1 Q28752220-61633B1D-10F9-4375-B82C-C78F27902F09 Q28756633-A7375FC2-BD63-4F6D-B67A-938F7B911BE1 Q29544005-41D2C17C-6557-47B4-865C-1801A1DE5DA2 Q29616033-3CFF6E03-CA36-4450-B827-6951356DCA9E Q30454302-832968EA-1BF0-48EC-8301-2A115743EB9B Q33280988-20A8C71A-9B5A-4F81-8DD8-361BFF2FE737 Q33587483-AB3E95CD-B2F6-4C74-BBE2-CC0BEB0B3BE1 Q33708603-59D80C75-CF2E-496B-8BDA-BC30A176FFBA Q33737564-6217ADB1-9402-4B0D-954A-11CF47357028 Q33756158-540FBF3F-9512-46CC-BECD-BEF11995CFDA Q33760962-EFAF2C87-D110-4F52-9D43-3D9A1D0A2BD5 Q33762256-0A1E8FC5-8049-4004-8052-A0FC8964773B Q33805828-E17B2859-5933-483E-8362-63B04F715BA1 Q33830518-A3156D1F-6D34-474D-B286-1452F97AA0BB Q33847296-E1297E00-BC31-4FCC-A38B-A108D1BEAC34 Q33856221-5A1376AA-6187-4108-A304-BA600CFBA644 Q33874840-7CDED026-8A08-4116-8D07-7D9F8020F34B Q33937230-1C6BDDD4-6981-4E81-9B82-824C47ACF635 Q34060416-82437E5C-3725-4A7E-BF41-03FF7CD18970 Q34060432-5100A94F-4CE0-440C-8983-04521B1E5E26 Q34091599-A273F405-2220-451B-98DD-CE7D73E595B9 Q34121461-115B0AC6-0384-4633-8134-511C729891F8 Q34208328-BD626C4F-F388-4FC2-BBBD-F6B30C2C4167

P2860

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

http://www.wikidata.org/entity/Q28257488

description

2006 nî lūn-bûn

@nan

2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

name

Microdeletion encompassing MAP ...... delay and learning disability

@ast

Microdeletion encompassing MAP ...... delay and learning disability

@en

Microdeletion encompassing MAP ...... delay and learning disability

@nl

type

label

Microdeletion encompassing MAP ...... delay and learning disability

@ast

Microdeletion encompassing MAP ...... delay and learning disability

@en

Microdeletion encompassing MAP ...... delay and learning disability

@nl

prefLabel

Microdeletion encompassing MAP ...... delay and learning disability

@ast

Microdeletion encompassing MAP ...... delay and learning disability

@en

Microdeletion encompassing MAP ...... delay and learning disability

@nl

P1433

Q28257488-CAD45C6B-8909-4E87-B756-A0375AA17A5E

P1476

Q28257488-207AD211-51BC-4545-879A-2030C428BDC1

P2093

Q28257488-1C3EFDC4-EC04-4AC0-AB98-F459192404A5

Q28257488-2534196D-1105-473F-8D35-ADC19ED596A1

Q28257488-2C93BD31-B55C-43BC-995F-0F258C5F4662

Q28257488-4F461144-4DC0-4791-9B30-E5192D583CD9

Q28257488-50A0960A-0913-437F-9B84-7CBE72B4E05A

Q28257488-5B607011-B018-44F9-BC5A-26D3A5E374A1

Q28257488-5D339C1D-8C4F-4EB6-8E12-E0297A844C20

Q28257488-6371F51F-E188-4C7A-A359-410703314911

Q28257488-74EEBE27-4F27-4C16-9874-8E44575EEAB0

Q28257488-7BFBEC8B-0ACD-4753-A408-2D0721D4FABA

P2860

Q28257488-03B5FAA3-2B3D-457E-AAA5-2B7A19FC2268

Q28257488-0669B71A-302A-472B-B185-520016C3107C

Q28257488-12E607F1-B1DD-41DB-B6F9-A23E551293F8

Q28257488-20686CE7-317F-4B33-AE93-B5B09A1DA833

Q28257488-2C2A46B1-4ABF-4771-9E50-6C672A2AA233

Q28257488-3C55114F-AE01-4CEF-8EDE-81D164844084

Q28257488-3FA31F61-46F7-4C5F-9D01-30CC59EB6C29

Q28257488-4E9E2B9B-C5A8-412A-AB15-8C19DA6D0EFE

Q28257488-531F74D4-7B25-4FDF-A5CA-37D890965AFD

Q28257488-5A1D84E4-E904-4D38-A418-6C5B0F9BA3CE

P2888

Q28257488-D095F6E7-3870-4A73-8EFF-15BD17119569

P304

Q28257488-32B0CEBC-CD7E-48B9-ACBE-62F6DFFD2489

P31

Q28257488-EA23CD8D-87E2-44E5-BA8A-FD8C7CF571BB

P3181

Q28257488-4B5BD323-4978-4889-86BC-71AB5343F084

P356

Q28257488-D3EFB338-6DEF-4699-91FC-7EF6282B2D26

P407

Q28257488-29E7A8C7-98BC-420B-8551-BC561851F9C8

P433

Q28257488-A55F55AF-A3C4-454E-BB90-84944513ACD2

P478

Q28257488-C46C6730-08BB-4466-B230-5B720D4C4F2B

P50

Q28257488-84F0BBDC-2D6D-4B71-A24C-3100D8752DD0

Q28257488-C07D1DA6-B5D3-4227-9BA5-A1E5603A25F6

Q28257488-E8BE698A-84A6-4471-AA0E-276CF407B457

P577

Q28257488-B8553BD2-FBE6-401A-990A-170E44E072F4

P5875

Q28257488-A7DF060B-8153-4B05-8EC3-C848F2CC5500

P698

Q28257488-4AD1690B-D17D-41B6-90C4-CD44A819BD63

P921

Q28257488-92AC0E6C-9A74-4626-B184-601800AC48DB

P3181

P356

P1433

Nature Genetics

P1476

Microdeletion encompassing MAP ...... delay and learning disability

@en

P2093

Ana C V Krepischi-Santos

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

Carolyn Dunn

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

Celia P Koiffmann

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

Charles Shaw-Smith

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

Dimitrios Kalaitzopoulos

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

Elena Prigmore

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

Helen V Firth

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

Howard Martin

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

Keith Porter

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

Lionel Willatt

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

P2860

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Gene conversion homogenizes the CMT1A paralogous repeats

Subtle chromosomal rearrangements in children with unexplained mental retardation

22q13 deletion syndrome

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Altered microtubule organization in small-calibre axons of mice lacking tau protein

Genome architecture, rearrangements and genomic disorders

A common inversion under selection in Europeans

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

P2888

P304

1032-7

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

P31

scholarly article

P3181

2363823

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

P356

10.1038/NG1858

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

P407

P433

9

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

P478

38

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

P50

Andrew John Lees

Carla Rosenberg

P577

2006-09-01T00:00:00Z

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

P5875

6881634

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

P698

16906163

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

P921