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Prader-Willi syndromePrader-Willi, Angelman, and 15q11-q13 Duplication SyndromesPrader-Willi and Angelman syndromes: sister imprinted disordersAngelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeMolecular mechanisms in Angelman syndrome: a survey of 93 patients.A boy with developmental delay and a maternally inherited deletion in 15q11q13Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.Angelman syndrome: mimicking conditions and phenotypes.Molecular mechanism of angelman syndrome in two large families involves an imprinting mutationImprinting-mutation mechanisms in Prader-Willi syndromeChromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromesPhenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in miceMolecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Molecular and Clinical Aspects of Angelman Syndrome.Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.Spatial and temporal silencing of the human maternal UBE3A gene.Mouse chromosome engineering for modeling human disease.Chromatin deregulation in disease.Prader-Willi syndrome: an update and review for the primary pediatrician.Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Clinical and genetic aspects of Angelman syndrome.Angelman syndrome: review of clinical and molecular aspects.Mutation Update for UBE3A variants in Angelman syndrome.Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.Imprinting analysis in spermatozoa prepared for intracytoplasmic sperm injection (ICSI).Manifestations in institutionalised adults with Angelman syndrome due to deletion.Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.New insights reveal complex mechanisms involved in genomic imprinting.Dental findings and special care in patients with Angelman syndrome: a report of three cases.
P2860
Q24517941-A0436B07-8DEB-44BC-95D4-42074E1245BBQ26827423-B676A9E1-7FB1-44F0-A5E7-FE03B08C6762Q28200133-2479B0FE-2299-47D5-AA66-99D6792E0BC7Q30252074-ACB462CC-9CCE-4E3F-A3C8-02C653142300Q33594746-5A5F7633-6D2A-4A3C-B791-80DB30FE898EQ33595952-540BCD66-6A2B-4BEC-84CE-683D774B0FC7Q33677377-DF4F22DC-4514-4551-9535-A0A96EEF3255Q33678886-C6269D28-7271-4567-AAC5-FDB904D9D64FQ33679254-32BA56E9-DDE0-4761-BAC6-404DA5E33525Q33680198-4F01655A-43D2-4FE8-B3AB-8A76A592CBB4Q33683182-A8CB1D68-0DC4-4D50-ACBE-941A208073A1Q34190554-53F0FF6F-5BD5-42FA-BF57-38F076654F8CQ34245057-747F9D77-F7C4-4321-9B04-9D5A627C6D66Q34388784-6BA60C46-E00D-49D8-B851-59CFA21D6BB3Q34388796-7C540D8D-7A88-4798-A714-B5DE0FC44D53Q34389945-8CC102D9-FBC2-4F62-BD45-E224C6D3B693Q34519257-7C604066-E401-47A1-8ED5-AFF4EC467CFBQ34570567-A28A92D0-C4EF-4F94-9A58-08B5FCE2852BQ34796000-421BBDD9-AFE9-4628-A9FA-8947A05411A2Q35136430-16240D98-CCC1-4B04-93F8-B7720A8C509FQ35643492-89B3C74D-8C95-4C31-A995-F42E22A5E8CEQ36006585-55333928-D420-43C4-83AF-69EFAC22DE29Q36148677-DC14E11E-ECF1-4D55-A454-14190CE00AC4Q36164754-526BF778-9210-4D9E-AE90-DB9E1A9664AFQ36528831-29C6B628-0A1E-4270-BB94-2C6A14D3FE73Q36599581-FA389AE9-CB9C-44AC-90D5-FC68FEF77DB2Q36830603-7B386BE5-715C-42C9-BA03-D88EE7F7F94DQ36846020-D512DF54-4D44-44ED-8A34-64305F8C3FCEQ37743131-B5B59E2A-CC83-4E59-99A7-F4C9D929E605Q38216017-0B92ED5A-2A7F-426F-9EEE-A2F9C2A59B90Q38248435-EA1FEA92-B81F-4D0E-B9A0-9211C859EE0CQ38362615-9C6AD8C8-7A59-422B-B2C4-C81F8FF32690Q40714017-897656C0-7B23-4627-8471-B9185AA4B07CQ41496798-6336D312-90E5-46E6-BF44-B7EE7CE4388AQ41671223-6130C6B6-5733-4C9F-8566-8AEB57545F85Q41924626-CA200217-1945-4B4E-B499-AC515165D37AQ41926177-F8EDA1F4-D4C9-4903-A3E9-13B40D1B6FC5Q42129638-DF1C60FA-3D9D-4899-83A0-C42D887DD2CCQ42558631-579915D4-D23D-4F0C-A5D2-C01426510C7EQ46530129-BF671488-C606-4CFA-9576-762E5676511D
P2860
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Angelman syndrome.
@en
type
label
Angelman syndrome.
@en
prefLabel
Angelman syndrome.
@en
P2860
P356
P1476
Angelman syndrome.
@en
P2093
Clayton-Smith J
Pembrey ME
P2860
P304
P356
10.1136/JMG.29.6.412
P407
P577
1992-06-01T00:00:00Z