Is Angelman syndrome an alternate result of del(15)(q11q13)?
about
Angelman syndrome: a review of the clinical and genetic aspectsGenomic imprinting: review and relevance to human diseases.Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Chromosome imbalance, normal phenotype, and imprinting.A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.Microdeletion syndromes, balanced translocations, and gene mappingPrader-Willi syndrome: current understanding of cause and diagnosis.Three probands with autistic disorder and isodicentric chromosome 15.Genomic imprintingThe association of Angelman's syndrome with deletions within 15q11-13Disorders caused by chromosome abnormalities.Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromesLinkage analysis in familial Angelman syndrome.Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Breaking the histone code with quantitative mass spectrometry.Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled PatientsImprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesEpilepsy in Korean patients with Angelman syndromeThe secret language of destiny: stress imprinting and transgenerational origins of diseaseUnderstanding the pathogenesis of Angelman syndrome through animal modelsIdentification and proteomic analysis of distinct UBE3A/E6AP protein complexes.The behavioural phenotype of Angelman syndrome.Angelman syndrome: clinical profile.Molecular basis of genetic neuropsychiatric disordersMicroarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsA putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromesUbe3a mRNA and protein expression are not decreased in Mecp2R168X mutant miceBehavior and neuropsychiatric manifestations in Angelman syndrome.Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain.Phenotypic variability and genetic susceptibility to genomic disordersComplex single gene disorders and epilepsy.Neurogenetic disorders and treatment of associated seizures.Genetic disorders associated with postnatal microcephaly.E6-Associated Protein Dependent Estrogen Receptor Regulation of Protein Kinase A Regulatory Subunit R2A Expression in Neuroblastoma.Chromosome maps of man and mouse. IV.
P2860
Q24678174-F51E4B1B-358C-4E10-A5B9-7A2D590A5A27Q30501672-E1F54263-290F-45D2-A36F-8CD8B53BA4E6Q33595511-1255D214-FE5B-47B2-88D9-F348912C16DAQ33598155-76C09949-0F35-40CD-A812-E39D6634E26CQ33598224-93ECFA9A-C73B-4AD6-B832-72122461B273Q33676997-F56AD114-A9C1-49C2-B261-BE8B8CC45751Q33858951-9DC3C8C5-3F38-4180-AE1E-FDBC650F0B9CQ33970872-34F98031-BD25-4DCE-881D-787DBCDBE40FQ34192686-2787D6B0-310B-4F9A-9E5E-6D57A88DDBA3Q34561648-0B5B4D8F-D4FE-4140-AEAA-61648FB956EEQ34775497-AC7177B4-CDE5-4EC0-90F8-4F271C6C650FQ34796000-51ED97BC-57C0-484A-8737-09D5D465FA3FQ35194519-6CDAA7AF-FC37-4026-8BA0-174B3FB0D9DBQ35197277-95CDB994-6491-406C-92E1-7D7358FF467AQ35198215-C93213C7-D406-49BD-B75F-8F9A9051FBF8Q35204517-832864C6-BB5E-445C-8D28-BD698904C03EQ35248915-D57826CF-47CA-46FA-B9DB-82E9157B13C5Q35250235-8A56F74B-A0B7-41BE-BA31-9C729D741CCBQ35645008-86981D04-B389-4678-879F-9619E503787CQ35765423-223801E9-CE0C-4ED6-8B8A-18DF4B67E0D2Q35868529-6800B2E3-9464-46A1-BB07-0E473C4C5A50Q35889365-39160149-58A0-4FA6-8D3F-EA5403AA4753Q35996254-F3B3CEC3-3825-4201-B9D7-C0DC1A8D5EDCQ36005293-DF7E2545-E6BA-4754-A70D-659B43EC0204Q36101992-2D32A694-8097-487E-8BE3-6E7D17A23B0FQ36210923-1A55382F-B426-485F-99B4-FB551C6F5FAEQ36326328-5395DDF9-4523-4EAE-A716-B4C8440B816EQ36340020-125856B7-FFF1-4200-9B02-90958B13F527Q36846974-1CF8E30A-10CB-4F44-A712-513A4239107DQ36930094-A6BF94E3-E618-4CFE-B1A1-39396B3C055DQ37060687-83278E49-E4FE-46A5-84A6-4EB3264A49D1Q37251436-77AD9101-AA1A-4352-8C78-43ADFBBFD21CQ37284693-E663C88C-3966-4A98-B7F4-E65BBDB022E5Q37462932-F4FB7294-D6E7-4159-A2A1-865E0EDC107AQ37784332-461A6973-0576-420E-8CC1-253D8CEB1534Q38040446-2A5A7E2D-ADF6-4C0B-8719-3556E87368DFQ38080786-97F0C8F8-7347-4797-867F-60A3651AD180Q38212652-A9634682-52E7-47A9-A6EC-996CC8941A50Q38288989-5137D94F-D91D-43E2-8ABC-B8C9E3C49072Q38736855-FE3BC76E-D03B-409E-830F-06D488CA208D
P2860
Is Angelman syndrome an alternate result of del(15)(q11q13)?
description
1987 nî lūn-bûn
@nan
1987 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Is Angelman syndrome an alternate result of del
@nl
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@ast
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@en
type
label
Is Angelman syndrome an alternate result of del
@nl
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@ast
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@en
prefLabel
Is Angelman syndrome an alternate result of del
@nl
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@ast
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@en
P2093
P356
P1476
Is Angelman syndrome an alternate result of del(15)(q11q13)?
@en
P2093
P304
P356
10.1002/AJMG.1320280407
P577
1987-12-01T00:00:00Z