Mutational mechanisms of Williams-Beuren syndrome deletions. - sprookjes - yvandenbroek - TriplyDB

Mutational mechanisms of Williams-Beuren syndrome deletions.

Mutational mechanisms of Williams-Beuren syndrome deletions.

http://www.wikidata.org/entity/Q41897140

about

Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndrome Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene Introduction: Williams syndrome Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Severe expressive-language delay related to duplication of the Williams-Beuren locus.CNV and nervous system diseases--what's new?Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Hotspots of homologous recombination in the human genome: not all homologous sequences are equal The impact of human copy number variation on gene expression Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome Rheumatoid arthritis: identifying and characterising polymorphisms using rat models Neurobiology of social behavior abnormalities in autism and Williams syndrome Major influence of repetitive elements on disease-associated copy number variants (CNVs)Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing.Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome The population genetics of structural variation Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 Auditory attraction: activation of visual cortex by music and sound in Williams syndrome.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders Essential role of the N-terminal region of TFII-I in viability and behavior.Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.The effect of intellectual ability on functional activation in a neurodevelopmental disorder: preliminary evidence from multiple fMRI studies in Williams syndrome Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression.Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

P2860

Q21136169-8BEB99E8-81C2-4751-B890-7C311D74888C Q22337162-2CB40805-3243-4318-AA6F-781196CDE29D Q24533576-4EFC56B0-273B-4093-B91B-8FF691AF25F7 Q24599604-BD392189-418C-4FD8-93C8-B6C53F0F5371 Q24602261-04889525-19F9-4E9C-BB44-E2DAE90549E9 Q24626704-6B97280D-E444-4766-8F7B-791F057B87BE Q24632941-B95D2794-0E71-4B23-AD12-FDF402058357 Q24647356-3A86C099-DC64-4682-850B-30D0CD683BD2 Q24809343-2B3BBE69-AE28-4CFD-80C7-7C92B10725C3 Q27027474-557C95BA-505A-4511-88BC-0D51EC74E13D Q27335096-EDCDFB84-1C3A-47AD-8457-07B89C7E3D98 Q28073099-A1920F5F-2F8A-4688-A839-EB9758964E50 Q28076343-36B52855-1E99-4FD2-81CF-3064EB941E96 Q28078563-369B62DE-EBDB-473B-A1D2-38952FA41FEC Q28262271-FDBEF6F8-7AA5-48CC-A6F4-26ECBA63FB72 Q28397438-9384F99B-E7B6-43ED-BF02-B3FE192AAA9C Q28476782-2306F717-C1EC-4BF5-9753-381EB97031C9 Q28752151-1E124E9E-BBB8-4D60-998E-99E25FC15D70 Q28769508-9C717453-052C-4817-B7F5-0D04B6AFC63B Q30388789-C1400B29-3ED6-4C91-A90C-11E358A3504F Q30472917-EDD6C664-B6F7-444C-9E23-6C52D0BF15A8 Q30480684-452761BF-EFBB-4BC4-8094-18419AF5C64E Q30481565-56C429B2-6F8D-4E83-9122-FDBBEE36382A Q30497302-4AE23125-D95B-4454-84B7-693BBEA19A0A Q30528523-81A77068-8531-4DDD-A3E2-1A85890E8305 Q30560450-9059E1E7-214B-408E-B2A8-D90E8D6CBB2B Q30736046-C2251E2D-82DB-412C-9D60-97BD1F3369D9 Q31043640-A3D93AC4-3EA1-43FB-A309-D0ECF941AE54 Q33518545-92951D8D-9387-410F-8ADB-1AA504489813 Q33687259-48F95670-0EE4-409D-8E8F-D1EF74DBC1F6 Q33717829-DD808614-480C-4F9C-A0CD-4801E1BDA3DA Q33846320-AA395755-1FD9-4672-8724-B94A8693B007 Q33902893-F8A394D7-EDC2-48A1-B93D-23844AC98042 Q33905292-D478FA41-97F4-409E-9A25-74A1AFD462B6 Q33905308-1B2BE4DB-6F4C-4BE5-B8EE-2D3D41D6ECF4 Q33905573-B5A65474-7F06-4C42-BA36-54D10122F1EE Q33930318-9E8BB9CF-952F-4AF5-A68C-1A2AE332BF31 Q33936913-87725247-20B2-4E9D-B281-067FFFF1040C Q33938790-03F1AEA7-A4EC-4641-9055-2A96775E78EF Q33945408-8ABAA39C-FA15-46CD-89C4-2BE7E2E47FEB

P2860

Mutational mechanisms of Williams-Beuren syndrome deletions.

http://www.wikidata.org/entity/Q41897140

description

2003 nî lūn-bûn

@nan

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

2003年论文

@zh

2003年论文

@zh-cn

name

Mutational mechanisms of Williams-Beuren syndrome deletions.

@en

type

label

Mutational mechanisms of Williams-Beuren syndrome deletions.

@en

prefLabel

Mutational mechanisms of Williams-Beuren syndrome deletions.

@en

P1433

Q41897140-40A07C47-D4A4-4225-A9CE-BE1F8303137D

P1476

Q41897140-A05FDBCB-E8A0-4963-9BE7-6593F23FEC16

P2093

Q41897140-492BA7F6-845A-4993-A0CD-20D6C566FD90

Q41897140-871922DA-B0AA-449D-B9F7-D684D69750CC

Q41897140-AB83A0F9-89C8-4EDA-B082-15B3A7EE22AB

Q41897140-C8BA8ADA-C169-42A1-9543-482800C1CD87

Q41897140-EB99B644-98D8-446A-AFB5-5AD7D2224F13

P2860

Q41897140-016A1AB4-BDBB-47D2-9748-40113039DE81

Q41897140-09568082-B531-4C35-995B-040114B85243

Q41897140-0A1B4E6E-7113-47F5-8ADE-4A8AE70A1374

Q41897140-1D063AA8-354F-4019-9B7C-04A069FDD00E

Q41897140-1DB7322C-6147-4E61-98CD-0966D8121BEE

Q41897140-2742B67B-BAE3-4651-9653-46FA0202B092

Q41897140-279E2B4D-4DAB-421F-B190-694343D881F6

Q41897140-3589C142-78DC-44E3-A91C-7B796F821666

Q41897140-363AF977-ABA3-485D-B6B8-FE3C62544F03

Q41897140-46EBE04B-FC16-4E3E-A45B-78AE87B5872E

P304

Q41897140-1BBD4755-0790-4780-B915-16EE077349A3

P31

Q41897140-2C36EC4F-A127-4020-B9CB-B8E635DAD9E1

P356

Q41897140-EF0C8BB8-6E69-486C-B795-0E00D27F5AD0

P407

Q41897140-3FF206EB-93ED-4750-8BB3-69889C66E97F

P433

Q41897140-0560BC07-C196-4D9D-A000-EFDA333877B3

P478

Q41897140-5481E203-9528-4D85-8ED9-47FCE1B49BC9

P577

Q41897140-CDB73ABB-11B5-4CC0-8492-9DC904C68B20

P5875

Q41897140-FEE8018F-3003-4A42-9927-7EB778CC3F65

P698

Q41897140-67FCA883-3140-4A18-BD4B-A6C83EB7C419

P932

Q41897140-B8A57C92-8557-4DB3-8437-30B73CB28D3B

P356

P1433

American Journal of Human Genetics

P1476

Mutational mechanisms of Williams-Beuren syndrome deletions.

@en

P2093

Luis A Pérez Jurado

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

Luis F Magano

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

Mònica Bayés

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

Núria Rivera

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

Raquel Flores

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

P2860

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

Genomic disorders on 22q11

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

Basic local alignment search tool

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

P304

131-151

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

P31

scholarly article

P356

10.1086/376565

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

P407

P433

1

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

P478

73

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

P577

2003-06-09T00:00:00Z

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

P5875

10716489

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

P698

12796854

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

P932

1180575

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