Citations for
Angelman syndrome: Mutations influence features in early childhood.
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.
Am J Med Genet A 155(1):81-90. doi: 10.1002/ajmg.a.33775.PMID: 21204213 2011
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome.
Zaaroor-Regev D, de Bie P, Scheffner M, Noy T, Shemer R, Heled M, Stein I, Pikarsky E, Ciechanover A.
Proc Natl Acad Sci U S A 107(15):6788-93. Epub 2010 Mar 29. 2010
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
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.
Cell 140(5):704-16.PMID: 20211139 2010
The behavioral phenotype of the Angelman syndrome.
Williams CA.
Am J Med Genet C Semin Med Genet 154C(4):432-7.PMID: 20981772 2010
Prader-Willi syndrome and Angelman syndrome.
Buiting K.
Am J Med Genet C Semin Med Genet 154C(3):365-76. Review.PMID: 20803659 2010
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H.
Am J Med Genet A 152A(1):141-6.PMID: 20034088 2010
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M.
Proc Natl Acad Sci U S A 107(41):17668-73. Epub 2010 Sep 27. 2010
Structural and functional analysis of amino-terminal enhancer of split in androgen-receptor-driven transcription.
Zhang Y, Gao S, Wang Z.
Biochem J 427(3):499-511. doi: 10.1042/BJ20091631. 2010
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.
Eur J Hum Genet 17(1):133-6. Epub 2008 Oct 1. 2009
Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F.
Am J Med Genet A 149A(3):343-8. 2009
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches.
Lu Y, Wang F, Li Y, Ferris J, Lee JA, Gao FB.
Hum Mol Genet 18(3):454-62. Epub 2008 Nov 7. 2009
12AS, DEL22Q11
Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
Kosaki R, Migita O, Takahashi T, Kosaki K.
Am J Med Genet A 149A(4):702-5. 2009
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.
Ronan A, Buiting K, Dudding T.
Am J Med Genet A 146(1):78-82. 2008
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL.
Hum Mol Genet 17(1):111-8. Epub 2007 Oct 16. 2008
Mechanisms of imprinting of the Prader-Willi/Angelman region.
Horsthemke B, Wagstaff J.
Am J Med Genet A 146A(16):2041-52. 2008
16AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
Ramocki MB, Zoghbi HY.
Nature 455(7215):912-8. 2008
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
Camprubi C, Coll MD, Villatoro S, Gabau E, Kamli A, Martinez MJ, Poyatos D, Guitart M.
Eur J Med Genet 50(1):11-20. Epub 2006 Oct 10. 2007
18AS, DEL15Q11, PWS
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.
Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT.
Cytogenet Genome Res 116(1-2):135-40. 2007
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
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.
Eur J Hum Genet 15(4):432-40. Epub 2007 Jan 31. 2007
Distribution of the D15Z1 copy number polymorphism.
Cockwell AE, Jacobs PA, Crolla JA.
Eur J Hum Genet 15(4):441-5. Epub 2007 Feb 21. 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.
Eur J Hum Genet 15(9):943-9. Epub 2007 May 23. 2007
Molecular epigenetics of Angelman syndrome.
Lalande M, Calciano MA.
Cell Mol Life Sci 64(7-8):947-60. Review. 2007
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5. 2007
Angelman syndrome 2005: Updated consensus for diagnostic criteria.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J.
Am J Med Genet A 140A(5):413-418 [Epub ahead of print] 2006
Imprinting defects on human chromosome 15.
Horsthemke B, Buiting K.
Cytogenet Genome Res 113(1-4):292-9. 2006
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA.
J Med Genet 43(6):512-6. Epub 2005 Sep 23. 2006
27WBS, AS, PWS, DEL22Q11, DUP15Q12, DUP7Q11,DUP22Q11
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
Eur J Hum Genet 14(7):831-7. Epub 2006 Apr 12. 2006
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples.
Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemke B.
J Med Genet 42(4):289-291. 2005
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.
Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.
Am J Med Genet A 139(2):106-13. 2005
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.
Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG.
Genomics 85(1):85-91. 2005
Assisted reproduction: the epigenetic perspective.
Horsthemke B, Ludwig M.
Hum Reprod Update 11(5):473-82. Epub 2005 Jul 1. Review. 2005
Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations.
Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA.
J Med Genet [Epub ahead of print] 2005
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome.
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.
Brain Dev 27(5):383-8. 2005
Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems.
Walz NC, Beebe D, Byars K.
Am J Ment Retard 110(4):243-52. 2005
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.
Am J Med Genet 125A(2):167-72. 2004
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.
Hum Mol Genet 13(7):751-62. Epub 2004 Feb 12. 2004
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.
Hum Genet 114(6):553-61. Epub 2004 Mar 10. 2004
Fat chance: genetic syndromes with obesity.
Delrue MA, Michaud J.
Clin Genet 66(2):83-93. 2004
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
Autism in Angelman syndrome: implications for autism research.
Peters SU, Beaudet AL, Madduri N, Bacino CA.
Clin Genet 66(6):530-6. 2004
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.
Am J Hum Genet 75(2):267-81. Epub 2004 Jun 11. 2004
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.
J Med Genet 41(3):175-82. 2004
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.
Am J Med Genet A 126(1):27-32. 2004
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.
J Biol Chem 279(39):41208-17. Epub 2004 Jul 19. 2004
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
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
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
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
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
50AS, 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
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
Angelman syndrome: mimicking conditions and phenotypes.
Williams CA, Lossie A, Driscoll D; R.
Am J Med Genet 101(1):59-64. Review. 2001
Rearrangements of chromosome 15 in epilepsy.
Torrisi L, Sangiorgi E, Russo L, Gurrieri F.
Am J Med Genet 106(2):125-8. 2001
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
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
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
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
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
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
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
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
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
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
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.
Gyftodimou J, et al.
Clin Genet 55(6):483-6 1999
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
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
Towards a molecular understanding of prader-willi and angelman syndromes.
Mann MR, Bartolomei MS.
Hum Mol Genet 8(10 REVIEW ISSUE):1867-73 1999
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
Parental imprinting and Angelman syndrome.
Lalande M, Minassian BA, DeLorey TM, Olsen RW.
Adv Neurol 79:421-9. Review. 1999
The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Robinson WP, et al.
J Med Genet 35 : 130-136. 1998
71AS, 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
72D15S63, 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
UBE3A mutations in two unrelated and phenotypically different Angelman syndrome patients.
Fung DCY, et al.
Hum Genet 102 : 487-492. 1998
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, et al.
Am J Hum Genet 62 : 1353-1360. 1998
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
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
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
UBE3A/E6-AP mutations cause Angelman syndrome.
Kishino T, et al.
Nat Genet 15 : 70-73. 1997
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
Imprinted segments in the human genome : different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Zeschnigk M, et al.
Hum Mol Genet 6 : 387-395. 1997
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
Greger V, et al.
Am J Hum Genet 60 : 574-580. 1997
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
Saitoh S, et al.
Am J Med Genet 68 : 195-206. 1997
Fishing out the Angelman syndrome gene.
Donlon T.
Nat Med 3 : 281. 1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
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.
Am J Hum Genet 61(1):228-31. No abstract available. 1997
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
Burger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A.
Am J Hum Genet 61(1):88-93. 1997
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL.
Nat Genet 17(1):75-8. 1997
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.
Rougeulle C, Glatt H, Lalande M.
Nat Genet 17(1):14-5. No abstract available. 1997
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.
Vu TH, Hoffman AR.
Nat Genet 17(1):12-3. No abstract available. 1997
The elusive Angelman syndrome critical region.
Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A.
J Med Genet 34(9):714-8. 1997
90AS, IC15, PWS
Imprinting mutations on human chromosome 15.
Horsthemke B, Dittrich B, Buiting K.
Hum Mutat 10(5):329-37. 1997
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Smith A, et al.
J Med Genet 33 : 107-112. 1996
Familial cryptic translocation resulting in Angelman syndrome : implications for imprinting or location of the Angelman gene?
Burke LW, et al.
Am J Hum Genet 58 : 777-784. 1996
93AS, D15S10, PWS
Routine screening for microdeletions by FISH in 77 patients suspected ofhaving Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
Erdel M, et al.
Hum Genet 97 : 784-793. 1996
Allele-specific replication of 15q11-q13 loci : a diagnostic test for detection of uniparental disomy.
White LM, et al.
Am J Hum Genet 59 : 423-430. 1996
Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations.
Saitoh S, et al.
Proc Natl Acad Sci U S A 93 : 7811-7815. 1996
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
Dittrich B, et al.
Nat Genet 14 : 163-164. 1996
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
Horsthemke B, et al.
J Med Genet 33 : 848-851. 1996
Robertsonian (15q;15q) translocation in a child with Angelman syndrome : evidence of uniparental disomy.
Tonk V, et al.
Am J Med Genet 66 : 426-428. 1996
Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee.
No Author listed
Am J Hum Genet 58(5):1085-8. No abstract available. 1996
100AS, PWS
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Buiting K, et al.
Nat Genet 9 : 395-400. 1995
101AS, PWS, D15S63
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Van den Ouweland AMW, et al.
Hum Genet 95 : 562-567. 1995
102PWS, AS
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
Christian SL, et al.
Am J Hum Genet 57 : 40-48. 1995
103AS, PWS
Physical mapping studies at D15S10 : implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.
Woodage T, et al.
Genomics 19 : 170-172. 1994
104AS, D15S225E, PWS, UBE3A
Imprinting analysis of three genes in the Prader-Willi/Angelman region : SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Nakao M, et al.
Hum Mol Genet 3 : 309-315. 1994
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
Smith A, et al.
Hum Genet 93 : 471-473. 1994
106PWS, AS
New insights reveal complex mechanisms involved in genomic imprinting.
Nicholls RD.
Am J Hum Genet 54 : 733-740. 1994
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
Reis A, et al.
Am J Hum Genet 54 : 741-747. 1994
108PWS, AS
Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region : clinical implications.
Leana-Cox J, et al.
Am J Hum Genet 54 : 748-756. 1994
109AS, PWS
Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
Delach JA, et al.
Am J Med Genet 52 : 85-91. 1994
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.
Buxton JL, et al.
Hum Mol Genet 3 : 1409-1413. 1994
Molecular and clinical study of 61 Angelman syndrome patients.
Saitoh S, et al.
Am J Med Genet 52 : 158-163. 1994
The critical region for Angelman syndrome lies between D15S122 and D15S113.
Greger V, et al.
Am J Med Genet 53 : 396-398. 1994
Molecular mechanisms in Angelman syndrome : a survey of 93 patients.
Chan CTJ, et al.
J Med Genet 30 : 895-902. 1993
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Mutirangura A, et al.
Genomics 18 : 546-552. 1993
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.
Greger V, et al.
Hum Mol Genet 2 : 921-924. 1993
Linkage analysis in familial Angelman syndrome.
Wagstaff J, et al.
Am J Hum Genet 53 : 105-112. 1993
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
Clayton-Smith J, et al.
J Med Genet 30 : 529-531. 1993
118AS, PWS
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Glenn CC, et al.
Hum Mol Genet 2 : 1377-1382. 1993
119AS, PWS
Uniparental disomy explains the occurence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Robinson WP, et al.
J Med Genet 30 : 756-760. 1993
Molecular study of chromosome 15 in patients with Angelman syndrome.
Beuten J, et al.
Hum Genet 90 : 489-495. 1993
121D15S113, AS, PWS
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13) : molecular diagnosis and mechanism of uniparental disomy.
Mutirangura A, et al.
Hum Mol Genet 2 : 143-151. 1993
Exclusion of the GABAa-receptor beta3 subunit gene as the Angelman's syndrome gene.
Reis A, et al.
Lancet 341 : 122-123. 1993
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
J Med Genet 30(9):756-60. 1993
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAa receptor beta3 subunit gene.
Saitoh S, et al.
Lancet 339 : 366-367. 1992
Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.
Smith JC, et al.
Hum Genet 88 : 376-378. 1992
126PWS, AS
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
Smeets DFCM, et al.
N Engl J Med 326 : 807-811. 1992
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.
Wagstaff J, et al.
Nat Genet 1 : 291-294. 1992
Uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
Freeman SB, et al.
Am J Hum Genet 51 : A303. 1992
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.
Clayton-Smith J, et al.
Am J Med Genet 44 : 256-260. 1992
Angelman syndrome in 8 patients of one large family; autosomal dominant inheritance of an imprinted gene/genes.
Meijers-Heijboer EJ, et al.
Am J Hum Genet 51 : A46. 1992
Pattern of inheritance of Angelman syndrome in 89 cases.
Buxton J, et al.
Am J Hum Genet 51 : A46. 1992
Uniparental disomy of chromosome 15 : mechanisms of origin, age effects and recombination.
Robinson WP, et al.
Am J Hum Genet 51 : A10. 1992
133PWS, AS
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Dittrich B, et al.
Hum Genet 90 : 313-315. 1992
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Meijers-Heijboer EJ, et al.
J Med Genet 29 : 853-857. 1992
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
Webb T, et al.
J Med Genet 29 : 921-924. 1992
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
Nicholls RD, et al.
Ann Neurol 32 : 512-518. 1992
137AS, PWS
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Driscoll DJ, et al.
Genomics 13(4):917-24. 1992
138PWS, AS
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
Kuwano A, et al.
Hum Mol Genet 1(6):417-25. 1992
Uniparental paternal disomy in Angelman's syndrome.
Malcolm S, et al.
Lancet 337 : 694-697. 1991
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Knoll JHM, et al.
Am J Hum Genet 48 : 16-21. 1991
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
Williams CA, et al.
Am J Med Genet 35 : 350-353. 1990
Cytogenetic and molecular study of the Angelman syndrome.
Imaizumi K, et al.
Am J Med Genet 35 : 314-318. 1990
143PWS, AS
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes : specific regions, extent of deletions, parental origin, and clinical consequences.
Magenis RE, et al.
Am J Med Genet 35 : 333-349. 1990
Angelman syndrome : three molecular classes identified with chromosome 15q11q13-specific DNA markers.
Knoll JHM, et al.
Am J Hum Genet 47 : 149-154. 1990
145PWS, AS
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
Knoll JHM, et al.
Am J Med Genet 32 : 285-290. 1989
The association of Angelman's syndrome with deletions within 15q11-13.
Pembrey M, et al.
J Med Genet 26 : 73-77. 1989
Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.
Cooke A, Tolmie JL, Glencross FJ, Boyd E, Clarke MM, Day R, Stephenson JB, Connor JM.
Am J Med Genet 32 : 545-549. 1989
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.
Williams CA, Hendrickson JE, Cantu ES, Donlon TA.
Am J Med Genet 32 : 333-338. 1989
149PWS, AS
Del(15)(q11q13) with a non-Prader-Willy syndrome/non-Angelman syndrome phenotype.
Kirson L, et al.
Am J Hum Genet 45 : A79. 1989
Angelman's syndrome maps to 15q11-q13.
Malcolm S, et al.
(HGM10) Cytogenet Cell Genet 51 : 1038-1039. 1989
151PWS, AS
Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.
Donlon TA.
Hum Genet 80 : 322-328. 1988
Clinical heterogeneity associated with deletions in the long arm of chromosome 15 : Report of 3 new cases and their possible genetic significance.
Kaplan LC, et al.
Am J Med Genet 28 : 45-53. 1987
Is Angelman syndrome an alternate result of del(15)(q11q13)?
Magenis RE, et al.
Am J Med Genet 28 : 829-838. 1987