Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum - Wikidata - awgldk - TriplyDB

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

http://www.wikidata.org/entity/Q28252393

about

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Of mice and men: molecular genetics of congenital heart disease A novel RING finger protein, Znf179, modulates cell cycle exit and neuronal differentiation of P19 embryonal carcinoma cells Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome Genomic sister-disorders of neurodevelopment: an evolutionary approach Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Behavioral disturbance and treatment strategies in Smith-Magenis syndrome A statin-regulated microRNA represses human c-Myc expression and function.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Rare copy number variation in cerebral palsy.Phenotypic variability and genetic susceptibility to genomic disorders Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Auditory Phenotype of Smith-Magenis Syndrome.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Dermatologic features of Smith-Magenis syndrome.Smith-Magenis Syndrome: Face Speaks.What can we learn from old microdeletion syndromes using array-CGH screening?Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome

P2860

Q24623891-DEDF9CC8-BE6F-41C3-8D75-446249F99C83 Q24683002-D3B211B4-7EFC-4CE0-BE88-198237C8A9A0 Q26995476-22B9B8F2-9BBE-4455-9E9C-8E7E72AB502A Q28507139-C1155E9C-8762-43EC-BA75-4DA8F9192E7C Q28589807-CF8B169F-375C-4855-B24E-4897CF764B11 Q33672377-9A7AEC9F-4A34-4C7E-AEDB-A98D4C5DFA76 Q33836605-A28D7496-4C7E-4BE2-A752-9D4CC1C2DC26 Q33999024-F0CC5B42-E8E6-402F-8683-4410ECB0533E Q34050900-5753CAFF-2466-4B20-B36F-DA2FAE2F99D4 Q34188749-E38CA914-4729-4E14-A3A9-E773F79A6E60 Q34328822-3E8C3C1A-EE42-49A0-A32B-7B9C333217D6 Q34428231-CFA0356E-D302-42F6-A9D5-2B195C829A04 Q34461103-F3B7DDEC-0E38-4A2A-9586-7CEBF32D22CD Q34777768-F6D7FCF2-5DFE-4A16-A180-D03411A8AFBB Q35286605-15517B29-6D5F-4310-828D-D8468EA3A71E Q35578268-8F0C1C7E-B136-4545-991C-8676A95A8830 Q35960747-BCD85C99-5EC6-406A-8434-D7065CD139EC Q35990963-86B2D039-2DD3-4246-9C68-DAA4D2F0BCAE Q36027440-4397D9D2-E58C-42D0-801C-AD01EE3A4C67 Q36379501-4939998F-C5A9-44DB-A826-7849778F769B Q36387744-DF9F8173-2C18-46A2-9ABF-795014A0BBB6 Q36695167-067055E0-D214-4147-97BC-47EC5896B2A8 Q37397669-7AE0FF46-2778-43D8-9B63-56DE3E854BC0 Q37784332-EEE5FB66-DF2A-45F2-B584-16B763EB5807 Q37872382-D4BAEF52-4E0F-4FFD-980C-0D2D74E2F318 Q38478012-13672511-C352-4B05-AEA4-70C03DA0D573 Q38629504-95DE7571-A73B-46ED-8DCF-AFFCFDA3DBD3 Q38849808-E45C9C32-1F9B-4ACE-987C-FDC3A0B61B21 Q41643440-C69F118D-6B42-488B-98BA-532241B5B9F0 Q42955370-2961EBE2-7F11-4164-9FFD-8854867EB6E4 Q43232472-CFB94E34-5B20-4D65-83BF-93524A87A133 Q46261319-37782DF6-0AAA-4D46-843C-4C1505A5CA72 Q47293604-92AB8E37-ACD2-41ED-ACD3-1992EF0E283A Q47560319-F5B33239-14B2-4BDB-AE4D-745A8624EA4B Q48114792-A3A5BD55-DB06-4419-9F1D-39A310CD7297 Q50544163-CE173492-1C75-4B01-A968-0BBF3CDDA213 Q50795886-22CABF12-5FC5-40B4-86B0-044D2BECC371 Q52644870-A7F7630A-99F4-4226-B7B3-FC73DD01EF96 Q52863809-9FA88BCC-1CC5-4219-BEE6-8B3BBBFA8F7C Q57062003-A323234A-0AEA-4963-95DA-D855195AFDA6

P2860

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

http://www.wikidata.org/entity/Q28252393

description

2006 nî lūn-bûn

@nan

2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հուլիսին 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

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@ast

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@en

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@nl

type

label

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@ast

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@en

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@nl

prefLabel

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@ast

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@en

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@nl

P1433

Q28252393-06D6B615-BAA9-4F23-82B6-8064C46DFC20

P1476

Q28252393-08CC4354-4DF5-4D50-AD61-BE1F13670D65

P2093

Q28252393-1420A4A9-1CBA-480F-8A0C-B21863386576

Q28252393-1B358B99-96CB-4500-AF9B-7BF65B20026B

Q28252393-2CDC8EED-4FB1-4699-8CE0-F79CEE48C5BD

Q28252393-2FDF575D-7ED1-4D5E-A6D4-631FCEA4AAE1

Q28252393-9EC70530-D857-4A1A-9858-A16E9EFD61FC

Q28252393-BA826A08-865E-472D-B95A-56F982EB67E0

Q28252393-C56FA97E-A368-420A-8E44-43FFB35AA542

Q28252393-D73203F4-18AB-4795-B32D-3895D7D216A8

Q28252393-EDC23BFC-8913-4B3F-B9A4-04DE1415A84A

P2860

Q28252393-042C09F9-45BC-414A-B9BC-60800EB6F67B

Q28252393-05C18FCC-89FD-41CF-BFC8-C4CDADF9A729

Q28252393-20BDBDEE-FC99-45A9-9CE9-CB0465B68557

Q28252393-2AD910EE-0E8F-41B0-839F-F62AECCEEFAB

Q28252393-366FE319-D6EE-4E57-8AEC-5356CFBAC96E

Q28252393-503820EC-C5D9-441D-9221-1C70AD2CB6FA

Q28252393-5125F7BB-DD5F-4410-B5F1-909BCC0F5CBC

Q28252393-59958911-3F8E-48DB-AEC0-A339092DDB83

Q28252393-66C27C6A-9B97-46CE-8FBD-FA496213CF0D

Q28252393-6EB95055-815A-4D33-8F76-B1F3344A2484

P2888

Q28252393-B50035BB-25EA-4A5D-91C2-4E5F56B6404B

P304

Q28252393-E2373E3B-AA7E-4255-AACC-264EF25E65D8

P31

Q28252393-873C965C-2CB2-4697-8B65-5A61D1980D2C

P3181

Q28252393-CCFF9914-68FC-4557-AE53-B41654BDC25D

P356

Q28252393-4244D11B-1F04-4BD2-8B3D-8ACDD299EF9D

P407

Q28252393-4A30CA6A-522F-4666-8839-14C3C6F5709D

P433

Q28252393-E03054C0-7F35-4AFD-8527-8FA6C0392970

P478

Q28252393-D89D8C2C-2B0B-4CA9-9FBC-2037AC0F6559

P577

Q28252393-93BDA1C4-F0EE-421B-B1C7-2F10F3B4AE60

P5875

Q28252393-64ED6F91-0910-42F6-A809-9FFB4269B768

P6179

Q28252393-58BA21B5-16FF-4BF0-8555-EB6E8633595F

P698

Q28252393-55CF1707-77F0-410D-9A2E-E60E30C1F0DA

P3181

P356

01.GIM.0000228215.32110.89

P1433

Genetics in Medicine

P1476

Genotype-phenotype correlation ...... ibute to the clinical spectrum

@en

P2093

Barbara B Szomju

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

Christopher D Trevors

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

Christopher N Vlangos

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

David J Bunyan

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

Emily Edelman

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

Lucie Dupuis

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

Marjan Nezarati

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

Santhosh Girirajan

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

Sarah H Elsea

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

P2860

Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

TACI is mutant in common variable immunodeficiency and IgA deficiency

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

P2888

01.gim.0000228215.32110.89

P304

417-27

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

P31

scholarly article

P3181

2292767

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

P356

10.1097/01.GIM.0000228215.32110.89

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

P407

P433

7

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

P478

8

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

P577

2006-07-01T00:00:00Z

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

P5875

6941069

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

P6179

1017765917

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

P698

16845274

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