| 1 | AS
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| Angelman syndrome: Mutations influence features in early childhood.
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| Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM.
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| Am J Med Genet A 155(1):81-90. doi: 10.1002/ajmg.a.33775.PMID: 21204213 2011
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| 2 | AS, RNF2, UBE3A
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| Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome.
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| Zaaroor-Regev D, de Bie P, Scheffner M, Noy T, Shemer R, Heled M, Stein I, Pikarsky E, Ciechanover A.
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| Proc Natl Acad Sci U S A 107(15):6788-93. Epub 2010 Mar 29. 2010
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| 3 | ARC, AS, UBE3A
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| The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
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| Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME.
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| Cell 140(5):704-16.PMID: 20211139 2010
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| 4 | AS
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| The behavioral phenotype of the Angelman syndrome.
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| Williams CA.
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| Am J Med Genet C Semin Med Genet 154C(4):432-7.PMID: 20981772 2010
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| 5 | AS, PWS
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| Prader-Willi syndrome and Angelman syndrome.
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| Buiting K.
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| Am J Med Genet C Semin Med Genet 154C(3):365-76. Review.PMID: 20803659 2010
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| 6 | AS, UBE3A
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| A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
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| Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H.
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| Am J Med Genet A 152A(1):141-6.PMID: 20034088 2010
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| 7 | AS, PWS, UBE3A
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| Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
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| Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M.
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| Proc Natl Acad Sci U S A 107(41):17668-73. Epub 2010 Sep 27. 2010
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| 8 | AES, AS
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| Structural and functional analysis of amino-terminal enhancer of split in androgen-receptor-driven transcription.
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| Zhang Y, Gao S, Wang Z.
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| Biochem J 427(3):499-511. doi: 10.1042/BJ20091631.
2010
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| 9 | ADSL, ADSLD, AS
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| Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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| Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.
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| Eur J Hum Genet 17(1):133-6. Epub 2008 Oct 1. 2009
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| 10 | AS, UBE3A
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| Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
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| Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F.
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| Am J Med Genet A 149A(3):343-8.
2009
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| 11 | AS, UBE3A
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| The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches.
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| Lu Y, Wang F, Li Y, Ferris J, Lee JA, Gao FB.
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| Hum Mol Genet 18(3):454-62. Epub 2008 Nov 7.
2009
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| 12 | AS, DEL22Q11
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| Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
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| Kosaki R, Migita O, Takahashi T, Kosaki K.
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| Am J Med Genet A 149A(4):702-5.
2009
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| 13 | AS
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| Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.
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| Ronan A, Buiting K, Dudding T.
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| Am J Med Genet A 146(1):78-82. 2008
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| 14 | AS, UBE3A
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| The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
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| Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL.
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| Hum Mol Genet 17(1):111-8. Epub 2007 Oct 16. 2008
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| 15 | PWS, AS
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| Mechanisms of imprinting of the Prader-Willi/Angelman region.
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| Horsthemke B, Wagstaff J.
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| Am J Med Genet A 146A(16):2041-52. 2008
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| 16 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
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| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
|
| Ramocki MB, Zoghbi HY.
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| Nature 455(7215):912-8.
2008
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| 17 | PWS, AS
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| Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
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| Camprubi C, Coll MD, Villatoro S, Gabau E, Kamli A, Martinez MJ, Poyatos D, Guitart M.
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| Eur J Med Genet 50(1):11-20. Epub 2006 Oct 10. 2007
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| 18 | AS, DEL15Q11, PWS
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| Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
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| Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT.
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| Cytogenet Genome Res 116(1-2):135-40. 2007
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| 19 | PWS, AS
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| Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
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| Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.
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| Eur J Hum Genet 15(4):432-40. Epub 2007 Jan 31. 2007
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| 20 | PWS, AS
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| Distribution of the D15Z1 copy number polymorphism.
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| Cockwell AE, Jacobs PA, Crolla JA.
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| Eur J Hum Genet 15(4):441-5. Epub 2007 Feb 21. 2007
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| 21 | AS
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| Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
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| Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.
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| Eur J Hum Genet 15(9):943-9. Epub 2007 May 23. 2007
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| 22 | AS, UBE3A
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| Molecular epigenetics of Angelman syndrome.
|
| Lalande M, Calciano MA.
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| Cell Mol Life Sci 64(7-8):947-60. Review.
2007
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| 23 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5.
2007
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| 24 | AS
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| Angelman syndrome 2005: Updated consensus for diagnostic criteria.
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| Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J.
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| Am J Med Genet A 140A(5):413-418 [Epub ahead of print] 2006
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| 25 | PWS, AS
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| Imprinting defects on human chromosome 15.
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| Horsthemke B, Buiting K.
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| Cytogenet Genome Res 113(1-4):292-9. 2006
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| 26 | AS
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| Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
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| Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA.
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| J Med Genet 43(6):512-6. Epub 2005 Sep 23. 2006
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| 27 | WBS, AS, PWS, DEL22Q11, DUP15Q12, DUP7Q11,DUP22Q11
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| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
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| Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
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| Eur J Hum Genet 14(7):831-7. Epub 2006 Apr 12. 2006
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| 28 | AS
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| Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples.
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| Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemke B.
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| J Med Genet 42(4):289-291. 2005
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| 29 | DUP15QP, INVDUP15, AS, PWS
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| Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.
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| Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.
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| Am J Med Genet A 139(2):106-13. 2005
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| 30 | AS
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| Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
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| Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG.
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| Genomics 85(1):85-91. 2005
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| 31 | AS, BWS
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| Assisted reproduction: the epigenetic perspective.
|
| Horsthemke B, Ludwig M.
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| Hum Reprod Update 11(5):473-82. Epub 2005 Jul 1. Review. 2005
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| 32 | AS
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| Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations.
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| Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA.
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| J Med Genet [Epub ahead of print] 2005
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| 33 | AS
|
| Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome.
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| Uemura N, Matsumoto A, Nakamura M, Watanabe K, Negoro T, Kumagai T, Miura K, Ohki T, Mizuno S, Okumura A, Aso K, Hayakawa F, Kondo Y.
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| Brain Dev 27(5):383-8. 2005
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| 34 | AS
|
| Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems.
|
| Walz NC, Beebe D, Byars K.
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| Am J Ment Retard 110(4):243-52. 2005
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| 35 | AS,MECP2,UBE3A
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| Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
|
| Hitchins MP, Rickard S, Dhalla F, de Vries BB, Winter R, Pembrey ME, Malcolm S.
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| Am J Med Genet 125A(2):167-72. 2004
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| 36 | PWS, AS
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| Control elements within the PWS/AS imprinting box and their function in the imprinting process.
|
| Kantor B, Makedonski K, Green-Finberg Y, Shemer R, Razin A.
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| Hum Mol Genet 13(7):751-62. Epub 2004 Feb 12. 2004
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| 37 | AS, SNRPN, SNURF, UBE3A
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| SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
|
| Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K.
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| Hum Genet 114(6):553-61. Epub 2004 Mar 10. 2004
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| 38 | ALMS1, AS, BFLS, FRAXA, MEHMO, MRXS11, MRXS7, PHP1A, PWS, WTSL1
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| Fat chance: genetic syndromes with obesity.
|
| Delrue MA, Michaud J.
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| Clin Genet 66(2):83-93. 2004
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| 39 | AS
|
| Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
|
| Varela MC, Kok F, Otto PA, Koiffmann CP.
|
| Eur J Hum Genet 12(12):987-92. 2004
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| 40 | AS
|
| Autism in Angelman syndrome: implications for autism research.
|
| Peters SU, Beaudet AL, Madduri N, Bacino CA.
|
| Clin Genet 66(6):530-6. 2004
|
| 41 | DUP15QP, PWS, AS, INVDUP15
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| High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
|
| Wang NJ, Liu D, Parokonny AS, Schanen NC.
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| Am J Hum Genet 75(2):267-81. Epub 2004 Jun 11. 2004
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| 42 | PWS, AS, DUP15QP, INVDUP15
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| BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
|
| Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE.
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| J Med Genet 41(3):175-82. 2004
|
| 43 | AS, PWS
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| A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.
|
| Collinson MN, Roberts SE, Crolla JA, Dennis NR.
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| Am J Med Genet A 126(1):27-32. 2004
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| 44 | UBE3A, AS
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| Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.
|
| Cooper EM, Hudson AW, Amos J, Wagstaff J, Howley PM.
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| J Biol Chem 279(39):41208-17. Epub 2004 Jul 19. 2004
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| 45 | AS
|
| Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
|
| Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B.
|
| Hum Mol Genet 13(21):2547-55. Epub 2004 Sep 22. 2004
|
| 46 | AS, PWS
|
| Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
|
| Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B.
|
| Am J Hum Genet 72(3):571-7. 2003
|
| 47 | AS,UBE3A
|
| Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
|
| Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O.
|
| Hum Mol Genet 12(8):849-58. 2003
|
| 48 | AS, BUD5SL, CYFIP1, NIPA1, NIPA2, PWS, TUBGCP5
|
| Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
|
| Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD.
|
| Am J Hum Genet 73(4):898-925. Epub 2003 Sep 23. 2003
|
| 49 | AS,RTT
|
| Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
|
| Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.
|
| J Med Genet 38(4):224-8. 2001
|
| 50 | AS, ATP10A, PWS, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115@, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116@, SNORD64, SNRPN, SNURF, UBE3A
|
| The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.
|
| Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.
|
| Hum Mol Genet 10(23):2687-700. 2001
|
| 51 | AS
|
| Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
|
| Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ.
|
| J Med Genet 38(12):834-45. 2001
|
| 52 | AS
|
| Angelman syndrome: mimicking conditions and phenotypes.
|
| Williams CA, Lossie A, Driscoll D; R.
|
| Am J Med Genet 101(1):59-64. Review. 2001
|
| 53 | AS, DUP15QP, INVDUP15
|
| Rearrangements of chromosome 15 in epilepsy.
|
| Torrisi L, Sangiorgi E, Russo L, Gurrieri F.
|
| Am J Med Genet 106(2):125-8. 2001
|
| 54 | AS, PWS
|
| Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
|
| Robinson WP, Christian SL, Kuchinka BD, Penaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH.
|
| Clin Genet 57(5):349-58. 2000
|
| 55 | AS
|
| A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction.
|
| Fridman C, Santos M, Ferrari I, Koiffmann CP.
|
| Clin Genet 57(1):86-7. No abstract available. 2000
|
| 56 | AS
|
| Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.
|
| Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP.
|
| Am J Med Genet 92(5):322-7. 2000
|
| 57 | AS,UBE3A
|
| The spectrum of mutations in UBE3A causing Angelman syndrome.
|
| Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL.
|
| Hum Mol Genet 8 : 129-135. 1999
|
| 58 | AS,IC15,SNRPN
|
| Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
|
| Ohta T, et al.
|
| Am J Hum Genet 64(2):385-96. 1999
|
| 59 | AS,UBE3A
|
| The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily.
|
| Nawaz Z, et al.
|
| Mol Cell Biol 19(2):1182-9. 1999
|
| 60 | AS
|
| Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
|
| Moncla A, et al.
|
| Eur J Hum Genet 7(2):131-9. 1999
|
| 61 | ABCLH, AS, BUD5SL, DEXI, HERC2, PWS
|
| Large genomic duplicons map to sites of instability in the prader-Willi/Angelman syndrome chromosome region (15q11-q13).
|
| Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.
|
| Hum Mol Genet 8(6):1025-37. 1999
|
| 62 | AS,UBE3A
|
| Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
|
| Moncla A, et al.
|
| J Med Genet 36(7):554-60. 1999
|
| 63 | PWS, AS
|
| Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
|
| Amos-Landgraf JM, et al.
|
| Am J Hum Genet 65(2):370-86. 1999
|
| 64 | AS
|
| Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.
|
| Gyftodimou J, et al.
|
| Clin Genet 55(6):483-6 1999
|
| 65 | AS
|
| A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
|
| Gillessen-Kaesbach G, et al.
|
| Eur J Hum Genet 7(6):638-44 1999
|
| 66 | AS,UBE3A
|
| Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene.
|
| van den Ouweland AM, et al.
|
| J Med Genet 36(9):723-4. No abstract available 1999
|
| 67 | AS, PWS
|
| Towards a molecular understanding of prader-willi and angelman syndromes.
|
| Mann MR, Bartolomei MS.
|
| Hum Mol Genet 8(10 REVIEW ISSUE):1867-73 1999
|
| 68 | AS,UBE3A
|
| Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.
|
| Baumer A, Balmer D, Schinzel A.
|
| Hum Genet 105(6):598-602 1999
|
| 69 | AS
|
| Parental imprinting and Angelman syndrome.
|
| Lalande M, Minassian BA, DeLorey TM, Olsen RW.
|
| Adv Neurol 79:421-9. Review. 1999
|
| 70 | AS, PWS
|
| The mechanisms involved in formation of deletions and duplications of 15q11-q13.
|
| Robinson WP, et al.
|
| J Med Genet 35 : 130-136. 1998
|
| 71 | AS, D15F375S1, D15F376S1, DEXI, GABRA5, HERC2P1, HERC2P2, HERC2P3, MKRN3, PWS, UBE3A
|
| Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
|
| Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH.
|
| Genome Res 8(2):146-57. 1998
|
| 72 | D15S63, AS, PWS, SNRPN
|
| Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.
|
| LaSalle JM, et al.
|
| Proc Natl Acad Sci U S A 95 : 1675-1680. 1998
|
| 73 | AS,UBE3A
|
| UBE3A mutations in two unrelated and phenotypically different Angelman syndrome patients.
|
| Fung DCY, et al.
|
| Hum Genet 102 : 487-492. 1998
|
| 74 | AS,UBE3A
|
| Mutation analysis of UBE3A in Angelman syndrome patients.
|
| Malzac P, et al.
|
| Am J Hum Genet 62 : 1353-1360. 1998
|
| 75 | AS, HERC2P4, HERC2P5, HERC2P6, HERC2P7, PWS
|
| Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome : implications for imprint-switch models, genetic counseling and prenatal diagnosis.
|
| Buiting K, et al.
|
| Am J Hum Genet 63 : 170-180. 1998
|
| 76 | AS, PWS
|
| Methylation analysis of the PWS/AS region does not support and enhancer-competition model.
|
| Schumacher A, Buiting K, Zeschnigk M, Doerfler W, Horsthemke B.
|
| Nat Genet 19 : 324-325. 1998
|
| 77 | AS,D16F37S6,HERC2,HERC2P1,HERC2P2,HERC2P3,HERC2P4,HERC2P5,HERC2P6,HERC2P7
|
| Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.
|
| Buiting K, Gross S, Ji Y, Senger G, Nicholls RD, Horsthemke B.
|
| Cytogenet Cell Genet 81 : 247-253. 1998
|
| 78 | AS,UBE3A
|
| UBE3A/E6-AP mutations cause Angelman syndrome.
|
| Kishino T, et al.
|
| Nat Genet 15 : 70-73. 1997
|
| 79 | AS,UBE3A
|
| De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
|
| Matsuura T, et al.
|
| Nat Genet 15 : 74-77. 1997
|
| 80 | AS, PWS
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| Imprinted segments in the human genome : different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
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| Zeschnigk M, et al.
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| Hum Mol Genet 6 : 387-395. 1997
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| 81 | AS
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| Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
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| Greger V, et al.
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| Am J Hum Genet 60 : 574-580. 1997
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| 82 | AS, PWS
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| Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
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| Saitoh S, et al.
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| Am J Med Genet 68 : 195-206. 1997
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| 83 | AS,UBE3A
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| Fishing out the Angelman syndrome gene.
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| Donlon T.
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| Nat Med 3 : 281. 1997
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| 84 | AS, PWS
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| Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
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| Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, Fois A, Simi P, Bosio L, Beccaria L, Zuffardi O, Ledbetter DH.
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| Am J Hum Genet 61(1):228-31. No abstract available. 1997
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| 85 | AS
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| Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
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| Burger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A.
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| Am J Hum Genet 61(1):88-93. 1997
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| 86 | AS,UBE3A
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| Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
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| Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL.
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| Nat Genet 17(1):75-8. 1997
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| 87 | AS,UBE3A
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| The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.
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| Rougeulle C, Glatt H, Lalande M.
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| Nat Genet 17(1):14-5. No abstract available. 1997
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| 88 | AS,UBE3A
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| Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.
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| Vu TH, Hoffman AR.
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| Nat Genet 17(1):12-3. No abstract available. 1997
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| 89 | AS,UBE3A
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| The elusive Angelman syndrome critical region.
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| Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A.
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| J Med Genet 34(9):714-8. 1997
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| 90 | AS, IC15, PWS
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| Imprinting mutations on human chromosome 15.
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| Horsthemke B, Dittrich B, Buiting K.
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| Hum Mutat 10(5):329-37. 1997
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| 91 | AS,UBE3A
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| Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
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| J Med Genet 33 : 107-112. 1996
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| 92 | AS
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| Familial cryptic translocation resulting in Angelman syndrome : implications for imprinting or location of the Angelman gene?
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| Am J Hum Genet 58 : 777-784. 1996
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| 93 | AS, D15S10, PWS
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| Routine screening for microdeletions by FISH in 77 patients suspected ofhaving Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
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| Erdel M, et al.
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| Hum Genet 97 : 784-793. 1996
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| 94 | AS, PWS
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| Allele-specific replication of 15q11-q13 loci : a diagnostic test for detection of uniparental disomy.
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| White LM, et al.
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| Am J Hum Genet 59 : 423-430. 1996
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| 95 | AS, IC15, IPW, PWS, MKRN3
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| Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations.
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| Saitoh S, et al.
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| Proc Natl Acad Sci U S A 93 : 7811-7815. 1996
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| 96 | AS, IC15, PWS, SNRPN
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| Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
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| Dittrich B, et al.
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| Nat Genet 14 : 163-164. 1996
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| 97 | AS, PWS
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| Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
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| J Med Genet 33 : 848-851. 1996
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| 98 | AS
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| Robertsonian (15q;15q) translocation in a child with Angelman syndrome : evidence of uniparental disomy.
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| Tonk V, et al.
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| Am J Med Genet 66 : 426-428. 1996
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| 99 | PWS, AS
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| Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee.
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| No Author listed
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| Am J Hum Genet 58(5):1085-8. No abstract available. 1996
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| 100 | AS, PWS
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| Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
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| Buiting K, et al.
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| Nat Genet 9 : 395-400. 1995
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| 101 | AS, PWS, D15S63
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| DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
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| Van den Ouweland AMW, et al.
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| Hum Genet 95 : 562-567. 1995
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| 102 | PWS, AS
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| Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
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| Christian SL, et al.
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| Am J Hum Genet 57 : 40-48. 1995
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| 103 | AS, PWS
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| Physical mapping studies at D15S10 : implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.
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| Woodage T, et al.
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| Genomics 19 : 170-172. 1994
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| 104 | AS, D15S225E, PWS, UBE3A
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| Imprinting analysis of three genes in the Prader-Willi/Angelman region : SNRPN, E6-associated protein, and PAR-2 (D15S225E).
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| Nakao M, et al.
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| Hum Mol Genet 3 : 309-315. 1994
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| 105 | AS
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| Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
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| Smith A, et al.
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| Hum Genet 93 : 471-473. 1994
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| 106 | PWS, AS
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| New insights reveal complex mechanisms involved in genomic imprinting.
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| Nicholls RD.
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| Am J Hum Genet 54 : 733-740. 1994
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| 107 | AS
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| Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
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| Reis A, et al.
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| Am J Hum Genet 54 : 741-747. 1994
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| 108 | PWS, AS
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| Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region : clinical implications.
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| Leana-Cox J, et al.
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| Am J Hum Genet 54 : 748-756. 1994
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| 109 | AS, PWS
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| Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
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| Delach JA, et al.
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| Am J Med Genet 52 : 85-91. 1994
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| 110 | AS
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| Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.
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| Buxton JL, et al.
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| Hum Mol Genet 3 : 1409-1413. 1994
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| 111 | AS
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| Molecular and clinical study of 61 Angelman syndrome patients.
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| Saitoh S, et al.
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| Am J Med Genet 52 : 158-163. 1994
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| 112 | AS,D15S113,D15S122
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| The critical region for Angelman syndrome lies between D15S122 and D15S113.
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| Greger V, et al.
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| Am J Med Genet 53 : 396-398. 1994
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| 113 | AS
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| Molecular mechanisms in Angelman syndrome : a survey of 93 patients.
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| J Med Genet 30 : 895-902. 1993
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| 114 | PWS, AS, SNRPN
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| A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
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| Mutirangura A, et al.
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| Genomics 18 : 546-552. 1993
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| 115 | AS
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| Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.
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| Greger V, et al.
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| Hum Mol Genet 2 : 921-924. 1993
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| 116 | AS
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| Linkage analysis in familial Angelman syndrome.
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| Wagstaff J, et al.
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| Am J Hum Genet 53 : 105-112. 1993
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| 117 | AS
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| Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
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| Clayton-Smith J, et al.
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| J Med Genet 30 : 529-531. 1993
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| 118 | AS, PWS
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| Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
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| Glenn CC, et al.
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| Hum Mol Genet 2 : 1377-1382. 1993
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| 119 | AS, PWS
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| Uniparental disomy explains the occurence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
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| Robinson WP, et al.
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| J Med Genet 30 : 756-760. 1993
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| 120 | AS
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| Molecular study of chromosome 15 in patients with Angelman syndrome.
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| Hum Genet 90 : 489-495. 1993
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| 121 | D15S113, AS, PWS
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| Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13) : molecular diagnosis and mechanism of uniparental disomy.
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| Mutirangura A, et al.
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| Hum Mol Genet 2 : 143-151. 1993
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| 122 | AS,GABRB3
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| Exclusion of the GABAa-receptor beta3 subunit gene as the Angelman's syndrome gene.
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| Reis A, et al.
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| Lancet 341 : 122-123. 1993
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| 123 | AS, INVDUP15, PWS, SMC15
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| Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
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| Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
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| J Med Genet 30(9):756-60. 1993
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| 124 | AS,GABRB3
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| Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAa receptor beta3 subunit gene.
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| Lancet 339 : 366-367. 1992
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| Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.
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| 126 | PWS, AS
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| Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
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| N Engl J Med 326 : 807-811. 1992
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| Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.
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| Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.
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| Angelman syndrome in 8 patients of one large family; autosomal dominant inheritance of an imprinted gene/genes.
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| Am J Hum Genet 51 : A46. 1992
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| Am J Hum Genet 51 : A46. 1992
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| 132 | AS
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| Uniparental disomy of chromosome 15 : mechanisms of origin, age effects and recombination.
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| Am J Hum Genet 51 : A10. 1992
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| 133 | PWS, AS
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| Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
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| Hum Genet 90 : 313-315. 1992
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| J Med Genet 29 : 853-857. 1992
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| 135 | AS
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| Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
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| J Med Genet 29 : 921-924. 1992
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| 136 | As
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| Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
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| Ann Neurol 32 : 512-518. 1992
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| 137 | AS, PWS
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| A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
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| Genomics 13(4):917-24. 1992
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| Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
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| Hum Mol Genet 1(6):417-25. 1992
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| 139 | AS
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| Uniparental paternal disomy in Angelman's syndrome.
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| Lancet 337 : 694-697. 1991
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| 140 | AS
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| Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
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| Am J Hum Genet 48 : 16-21. 1991
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| 141 | AS
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| Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
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| Am J Med Genet 35 : 350-353. 1990
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| 142 | AS
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| Cytogenetic and molecular study of the Angelman syndrome.
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| Am J Med Genet 35 : 314-318. 1990
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| 143 | PWS, AS
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| Comparison of the 15q deletions in Prader-Willi and Angelman syndromes : specific regions, extent of deletions, parental origin, and clinical consequences.
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| Angelman syndrome : three molecular classes identified with chromosome 15q11q13-specific DNA markers.
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| Am J Hum Genet 47 : 149-154. 1990
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| 145 | PWS, AS
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| Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
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| Am J Med Genet 32 : 285-290. 1989
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| 146 | AS
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| The association of Angelman's syndrome with deletions within 15q11-13.
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| J Med Genet 26 : 73-77. 1989
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| 147 | AS
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| Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.
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| Cooke A, Tolmie JL, Glencross FJ, Boyd E, Clarke MM, Day R, Stephenson JB, Connor JM.
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| Am J Med Genet 32 : 545-549. 1989
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| 148 | AS
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| Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.
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| Williams CA, Hendrickson JE, Cantu ES, Donlon TA.
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| Am J Med Genet 32 : 333-338. 1989
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| 149 | PWS, AS
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| Del(15)(q11q13) with a non-Prader-Willy syndrome/non-Angelman syndrome phenotype.
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| Kirson L, et al.
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| Am J Hum Genet 45 : A79. 1989
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| 150 | AS
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| Angelman's syndrome maps to 15q11-q13.
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| Malcolm S, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1038-1039. 1989
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| 151 | PWS, AS
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| Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.
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| Hum Genet 80 : 322-328. 1988
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| 152 | AS
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| Clinical heterogeneity associated with deletions in the long arm of chromosome 15 : Report of 3 new cases and their possible genetic significance.
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| Kaplan LC, et al.
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| Am J Med Genet 28 : 45-53. 1987
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| Is Angelman syndrome an alternate result of del(15)(q11q13)?
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| Magenis RE, et al.
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| Am J Med Genet 28 : 829-838. 1987
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