| 1 | MAGEL2, PWS
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| Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice.
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| Mercer RE, Michaelson SD, Chee MJ, Atallah TA, Wevrick R, Colmers WF.
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| PLoS Genet 9(1):e1003207. doi: 10.1371/journal.pgen.1003207. Epub 2013 Jan 17.
2013
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| 2 | PWS
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| Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
|
| Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ.
|
| Eur J Hum Genet 20(3):283-90. doi: 10.1038/ejhg.2011.187. Epub 2011 Nov 2.
2012
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| 3 | PWS
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| Aging in Prader-Willi syndrome: Twelve persons over the age of 50 years.
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| Sinnema M, Schrander-Stumpel CT, Maaskant MA, Boer H, Curfs LM.
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| Am J Med Genet A 158A(6):1326-36. doi: 10.1002/ajmg.a.35333. Epub 2012 May 14.
2012
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| 4 | PWS
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| Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
|
| Matsubara K, Murakami N, Nagai T, Ogata T.
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| J Hum Genet 56(8):566-71. doi: 10.1038/jhg.2011.59. Epub 2011 Jun 2.
2011
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| 5 | MAGEL2, PWS
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| Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.
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| Tennese AA, Wevrick R.
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| Endocrinology 152(3):967-78. doi: 10.1210/en.2010-0709. Epub 2011 Jan 19.
2011
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| 6 | PWS
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| An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.
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| Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S.
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| Am J Med Genet A 152A(2):404-8.PMID: 20082457 2010
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| 7 | PWS
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| Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2).
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| Heidemann S, Plendl H, Vater I, Gesk S, Exeler-Telker JR, Grote W, Siebert R, Caliebe A.
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| Prenat Diagn 30(2):183-5. No abstract available. PMID: 20063327 2010
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| 8 | HTR2C, PWS, SNRPN, SNURF
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| The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.
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| Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S.
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| Hum Mol Genet 19(7):1153-64. Epub 2010 Jan 6. 2010
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| 9 | PWS, SNORD116@
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| Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
|
| Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T.
|
| Eur J Hum Genet 18(11):1196-201. Epub 2010 Jun 30.PMID: 20588305 2010
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| 10 | PWS
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| Neurobehavioral phenotype in Prader-Willi syndrome.
|
| Whittington J, Holland A.
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| Am J Med Genet C Semin Med Genet 154C(4):438-47.PMID: 20981773 2010
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| 11 | AS, PWS
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| Prader-Willi syndrome and Angelman syndrome.
|
| 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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| 12 | 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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| 13 | GNRH1, MSX1, MSX2, NDN, PWS
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| Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
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| Miller NL, Wevrick R, Mellon PL.
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| Hum Mol Genet 18(2):248-60. Epub 2008 Oct 17.
2009
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| 14 | MAGEL2, MKRN3, NDN, PWS
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| A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
|
| Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K.
|
| Eur J Hum Genet 17(5):582-90. Epub 2008 Dec 10.
2009
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| 15 | DEL15Q11, PWS
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| Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
|
| Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.
|
| Eur J Med Genet 52(2-3):108-15. Epub 2009 Mar 27.
2009
|
| 16 | PWS
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| Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome.
|
| Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM.
|
| Am J Med Genet A 149A(7):1581-4. No abstract available.
2009
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| 17 | PWS
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| Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome.
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| de Lind van Wijngaarden RF, Siemensma EP, Festen DA, Otten BJ, van Mil EG, Rotteveel J, Odink RJ, Bindels-de Heus GC, van Leeuwen M, Haring DA, Bocca G, Houdijk EC, Hoorweg-Nijman JJ, Vreuls RC, Jira PE, van Trotsenburg AS, Bakker B, Schroor EJ, Pilon JW, Wit JM, Drop SL, Hokken-Koelega AC.
|
| J Clin Endocrinol Metab 94(11):4205-15. Epub 2009 Oct 16.
2009
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| 18 | CYFiP1, DEL15Q11, NIPA1, NIPA2, PWS, TUBGCP5
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| Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
|
| Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.
|
| Eur J Med Genet 52(2-3):108-15. Epub 2009 Mar 27. 2009
|
| 19 | CYFIP1, GOLGA8EP, GOLGA8F, NIPA2, PWS, WHDC1L1
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| Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for from the proximal breakpoint region.
|
| Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork C, Shaffer LG, Beaudet AL.
|
| BMC Genomics 9(1):50 [Epub ahead of print] 2008
|
| 20 | PWS
|
| In search of the psychosis gene in people with Prader-Willi syndrome.
|
| Webb T, Maina EN, Soni S, Whittington J, Boer H, Clarke D, Holland A.
|
| Am J Med Genet A 146A(7):843-853 [Epub ahead of print] 2008
|
| 21 | PWS
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| Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome.
|
| Brandau DT, Theodoro M, Garg U, Butler MG.
|
| Am J Med Genet A 146(5):665-9. No abstract available. 2008
|
| 22 | PWS
|
| Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.
|
| Butler MG, Fischer W, Kibiryeva N, Bittel DC.
|
| Am J Med Genet A 146(7):854-60. 2008
|
| 23 | PWS
|
| The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.
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| Grugni G, Crin˜ A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifir˜ G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iann“ F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G; Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED).
|
| Am J Med Genet A 146(7):861-72. 2008
|
| 24 | PWS
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| Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.
|
| Calounova G, Hedvicakova P, Silhanova E, Kreckova G, Sedlacek Z.
|
| Am J Med Genet A 146A(15):1955-62. 2008
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| 25 | PWS, AS
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| Mechanisms of imprinting of the Prader-Willi/Angelman region.
|
| Horsthemke B, Wagstaff J.
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| Am J Med Genet A 146A(16):2041-52. 2008
|
| 26 | AS, 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
|
| 27 | PWS
|
| Cognition and behavior in pre-pubertal children with Prader-Willi syndrome and associations with sleep-related breathing disorders.
|
| Festen DA, Wevers M, de Weerd AW, van den Bossche RA, Duivenvoorden HJ, Hokken-Koelega AC.
|
| Am J Med Genet A 146A(23):3018-3025. [Epub ahead of print]
2008
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| 28 | PWS
|
| Recommendations for the diagnosis and management of Prader-Willi syndrome.
|
| Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS.
|
| J Clin Endocrinol Metab 93(11):4183-97. Epub 2008 Aug 12.
2008
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| 29 | PWS, SNORD115@, SNORD116@, SNRPN, SNURF
|
| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
|
| Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.
|
| Nat Genet 40(6):719-21. Epub 2008 May 25. 2008
|
| 30 | PWS, SNORD116@
|
| SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
|
| Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.
|
| PLoS ONE 3(3):e1709.
2008
|
| 31 | NDN, PWS
|
| Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome.
|
| Zanella S, Watrin F, Mebarek S, Marly F, Roussel M, Gire C, Diene G, Tauber M, Muscatelli F, Hilaire G.
|
| J Neurosci 28(7):1745-55.
2008
|
| 32 | PWS
|
| Changing rates of genetic subtypes of Prader-Willi syndrome in the UK.
|
| Whittington JE, Butler JV, Holland AJ.
|
| Eur J Hum Genet 15(1):127-30. Epub 2006 Sep 6. 2007
|
| 33 | PWS, AS
|
| 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
|
| 34 | AS, 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
|
| 35 | PWS
|
| Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): An interdisciplinary study.
|
| Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, Ozuna B, Leske V, Caino S, Fano V, Chertkoff L.
|
| Am J Med Genet A 143(5):460-8. 2007
|
| 36 | PWS
|
| Whole genome microarray analysis of gene expression in Prader-Willi syndrome.
|
| Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG.
|
| Am J Med Genet A 143(5):430-42. 2007
|
| 37 | PWS
|
| X-chromosome inactivation patterns in females with Prader-Willi syndrome.
|
| Butler MG, Theodoro MF, Bittel DC, Kuipers PJ, Driscoll DJ, Talebizadeh Z.
|
| Am J Med Genet A 143(5):469-75. 2007
|
| 38 | PWS, AS
|
| 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
|
| 39 | PWS, AS
|
| 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
|
| 40 | PWS, SNRPN
|
| Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.
|
| Maina EN, Webb T, Soni S, Whittington J, Boer H, Clarke D, Holland A.
|
| J Hum Genet 52(4):297-307. Epub 2007 Jan 30. 2007
|
| 41 | MAGEL2, PWS
|
| Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
|
| Bischof JM, Stewart CL, Wevrick R.
|
| Hum Mol Genet 16(22):2713-9. Epub 2007 Aug 29. 2007
|
| 42 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
|
| 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
|
| 43 | PWS, SNRF, SNURF
|
| Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.
|
| Maina EN, Webb T, Soni S, Whittington J, Boer H, Clarke D, Holland A.
|
| J Hum Genet 52(4):297-307. Epub 2007 Jan 30.PMID: 17262171 2007
|
| 44 | PWS, CD36
|
| CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome.
|
| Webb T, Whittington J, Holland AJ, Soni S, Boer H, Clarke D, Horsthemke B.
|
| Clin Genet 69(1):26-32. 2006
|
| 45 | PWS, AS
|
| Imprinting defects on human chromosome 15.
|
| Horsthemke B, Buiting K.
|
| Cytogenet Genome Res 113(1-4):292-9. 2006
|
| 46 | PWS
|
| Pervasive developmental disorders in Prader-Willi syndrome: The Leuven experience in 59 subjects and controls.
|
| Descheemaeker MJ, Govers V, Vermeulen P, Fryns JP.
|
| Am J Med Genet A 140(11):1136-42. 2006
|
| 47 | WBS, 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
|
| 48 | CYFIP1, DEL15Q11, NIPA2, PWS
|
| Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
|
| Bittel DC, Kibiryeva N, Butler MG.
|
| Pediatrics 118(4):e1276-83. Epub 2006 Sep 18. 2006
|
| 49 | NDN, PWS
|
| Sensory defects in Necdin deficient mice result from a loss of sensory neurons correlated within an increase of developmental programmed cell death.
|
| Andrieu D, Meziane H, Marly F, Angelats C, Fernandez PA, Muscatelli F.
|
| BMC Dev Biol 6:56.
2006
|
| 50 | PWS
|
| Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
|
| Varela M, Kok F, Setian N, Kim C, Koiffmann C.
|
| Clin Genet 67(1):47-52. 2005
|
| 51 | BBS4, MAGEL2, NDN, PWS
|
| Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
|
| Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R.
|
| Hum Mol Genet 14(5):627-37. Epub 2005 Jan 13. 2005
|
| 52 | PWS
|
| Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.
|
| Hartley SL, Maclean WE Jr, Butler MG, Zarcone J, Thompson T.
|
| Am J Med Genet A 136(2):140-5. 2005
|
| 53 | DUP15QP, INVDUP15, AS, PWS
|
| 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
|
| 54 | PWS
|
| Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
|
| Liehr T, Brude E, Gillessen-Kaesbach G, Konig R, Mrasek K, von Eggeling F, Starke H.
|
| Eur J Med Genet 48(2):175-81. Epub 2005 Feb 17. Review. 2005
|
| 55 | PWS
|
| Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.
|
| Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF.
|
| J Child Psychol Psychiatry 46(10):1089-96. 2005
|
| 56 | PWS
|
| Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome.
|
| Hoybye C, Thoren M, Bohm B.
|
| J Intellect Disabil Res 49(Pt 4):245-52. 2005
|
| 57 | PWS, AS
|
| 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
|
| 58 | ALMS1, AS, BFLS, FRAXA, MEHMO, MRXS11, MRXS7, PHP1A, PWS, WTSL1
|
| Fat chance: genetic syndromes with obesity.
|
| Delrue MA, Michaud J.
|
| Clin Genet 66(2):83-93. 2004
|
| 59 | PWS
|
| Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
|
| Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A.
|
| Eur J Hum Genet [Epub ahead of print] 2004
|
| 60 | UPD14M, PWS
|
| Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome.
|
| Cox H, Bullman H, Temple IK.
|
| Am J Med Genet A 127(1):21-5. 2004
|
| 61 | PWS
|
| Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy.
|
| Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T.
|
| Pediatrics 113(3 Pt 1):565-73. 2004
|
| 62 | DUP15QP, PWS, AS, INVDUP15
|
| 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
|
| 63 | PWS, AS, DUP15QP, INVDUP15
|
| 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
|
| 64 | AS, PWS
|
| 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
|
| 65 | 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
|
| 66 | 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
|
| 67 | PWS
|
| Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
|
| Horsthemke B, Nazlican H, Husing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K.
|
| Hum Mol Genet 12(20):2723-32. Epub 2003 Aug 27. 2003
|
| 68 | PWS, SNORD116@
|
| Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
|
| Gallagher RC, Pils B, Albalwi M, Francke U.
|
| Am J Hum Genet 71(3):669-78. 2002
|
| 69 | PWS
|
| The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study.
|
| Whitman BY, Myers S, Carrel A, Allen D.
|
| Pediatrics 109(2):E35. 2002
|
| 70 | PWS
|
| Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
|
| El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B.
|
| Nat Genet 27(3):341-4. 2001
|
| 71 | PWS
|
| Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.
|
| Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M.
|
| Hum Mol Genet 10(4):383-94. 2001
|
| 72 | 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
|
| 73 | 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
|
| 74 | PWS
|
| Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.
|
| Lee S, Wevrick R.
|
| Am J Hum Genet 66(3):848-58. 2000
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| 75 | PWS
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| Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15.
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| Olander E, Stamberg J, Steinberg L, Wulfsberg EA.
|
| Am J Med Genet 93(3):215-8. 2000
|
| 76 | MAGEL2, PWS
|
| Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
|
| Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R.
|
| Hum Mol Genet 9(12):1813-9. 2000
|
| 77 | PWS, SNRPN
|
| Prader-Willi syndrome is caused by disruption of the SNRPN gene.
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| Kuslich CD, et al.
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| Am J Hum Genet 64 : 70-76. 1999
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| 78 | IC15, PWS, SNRPN
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| Imprinting-mutation mechanisms in prader-willi syndrome.
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| Ohta T, et al.
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| Am J Hum Genet 64(2):397-413. 1999
|
| 79 | UPD14M, PWS
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| Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
|
| Berends MJ, et al.
|
| Am J Med Genet 84(1):76-9. No abstract available 1999
|
| 80 | PWS, MKRN3, MKRN3AS
|
| A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the prader-willi syndrome critical region.
|
| Jong MT, et al.
|
| Hum Mol Genet 8(5):783-93. 1999
|
| 81 | ABCLH, AS, BUD5SL, DEXI, HERC2, PWS
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| 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
|
| 82 | PWS, SNRPN
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| Paternal deletion from snrpn to ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to prader-willi syndrome.
|
| Tsai TF, et al.
|
| Hum Mol Genet 8(8):1357-64. 1999
|
| 83 | PWS, AS
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| Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
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| Amos-Landgraf JM, et al.
|
| Am J Hum Genet 65(2):370-86. 1999
|
| 84 | MAGEL2, PWS
|
| The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the prader-willi region.
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| Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M, Muscatelli F.
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| Hum Mol Genet 8(13):2497-505 1999
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| 85 | IC15, MKRN3, PWS, SNRPN, SNURF
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| Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.
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| Greally JM, Gray TA, Gabriel JM, Song L, Zemel S, Nicholls RD.
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| Proc Natl Acad Sci U S A 96(25):14430-5 1999
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| 86 | AS, PWS
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| Towards a molecular understanding of prader-willi and angelman syndromes.
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| Mann MR, Bartolomei MS.
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| Hum Mol Genet 8(10 REVIEW ISSUE):1867-73 1999
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| 87 | D15S63, PWS
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| A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?
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| Buiting K, Dittrich B, Dworniczak B, Lerer I, Abeliovich D, Cottrell S, Temple IK, Harvey JF, Lich C, Gross S, Horsthemke B.
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| Am J Hum Genet 65(6):1588-94 1999
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| 88 | PWS
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| Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: A controlled study.
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| Carrel AL, Myers SE, Whitman BY, Allen DB.
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| J Pediatr 134(2):215-21. 1999
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| 89 | AS, PWS
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| The mechanisms involved in formation of deletions and duplications of 15q11-q13.
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| Robinson WP, et al.
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| J Med Genet 35 : 130-136. 1998
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| 90 | 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.
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| Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH.
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| Genome Res 8(2):146-57. 1998
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| 91 | D15S63, AS, PWS, SNRPN
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| Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.
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| LaSalle JM, et al.
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| Proc Natl Acad Sci U S A 95 : 1675-1680. 1998
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| 92 | PWS
|
| Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
|
| Wandstrat AE, et al.
|
| Am J Hum Genet 62 : 925-936. 1998
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| 93 | IC15, PWS, SNRPN
|
| A mouse model for Prader-Willi syndrome imprinting-centre mutations.
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| Yang T, et al.
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| Nat Genet 19 : 25-31. 1998
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| 94 | AS, HERC2P4, HERC2P5, HERC2P6, HERC2P7, PWS
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| Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome : implications for imprint-switch models, genetic counseling and prenatal diagnosis.
|
| Buiting K, et al.
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| Am J Hum Genet 63 : 170-180. 1998
|
| 95 | AS, PWS
|
| Methylation analysis of the PWS/AS region does not support and enhancer-competition model.
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| Schumacher A, Buiting K, Zeschnigk M, Doerfler W, Horsthemke B.
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| Nat Genet 19 : 324-325. 1998
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| 96 | 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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| 97 | PWS
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| Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
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| Cassidy SB, et al.
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| Am J Med Genet 68 : 433-440. 1997
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| 98 | 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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| 99 | 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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| 100 | PWS
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| Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
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| Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S.
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| Am J Hum Genet 61(2):388-94 1997
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| 101 | 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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| 102 | GART, PWS
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| The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome.
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| Brodsky G, Barnes T, Bleskan J, Becker L, Cox M, Patterson D.
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| Hum Mol Genet 6(12):2043-50. 1997
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| 103 | PWS
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| Prader-Willi syndrome.
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| Cassidy SB.
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| J Med Genet 34(11):917-23. Review. 1997
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| 104 | PWS, SNRPN
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| Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
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| Schulze A, et al.
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| Nat Genet 12 : 452-454. 1996
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| 105 | PWS, SNRPN
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| Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
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| Sun Y, et al.
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| Hum Mol Genet 5 : 517-524. 1996
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| 106 | PWS
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| The impact of imprinting : Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.
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| Toth-Fejel SE, et al.
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| Am J Hum Genet 58 : 1008-1016. 1996
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| 107 | 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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| 108 | 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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| 109 | 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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| 110 | PAR5, PARSN, PWS, SNRPN
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| Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
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| Ning Y, et al.
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| Genome Res 6 : 742-746. 1996
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| 111 | IC15, PWS
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| A familial deletion in the Prader-Willi syndrome region including the imprinting control region.
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| Schuffenhauer S, et al.
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| Hum Mutat 8 : 288-292. 1996
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| 112 | 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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| 113 | PWS, SNRPN
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| Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
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| Wevrick R, et al.
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| Lancet 348 : 1068-1069. 1996
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| 114 | PWS
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| A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
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| Butler MG, et al.
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| Am J Med Genet 65 : 137-141. 1996
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| 115 | 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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| Horsthemke B, et al.
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| J Med Genet 33 : 848-851. 1996
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| 116 | 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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| 117 | PWS
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| Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
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| Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B.
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| Hum Genet 96 : 638-643. 1995
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| 118 | 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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| 119 | 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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| 120 | 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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| 121 | 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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| 122 | 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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| 123 | PWS
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| Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.
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| Saitoh S, et al.
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| Am J Med Genet 50 : 64-67. 1994
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| 124 | 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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| 125 | 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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| 126 | PWS
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| Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
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| Buiting K, et al.
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| Hum Mol Genet 3 : 893-895. 1994
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| 127 | PWS
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| Molecular diagnosis of Prader-Willi syndrome : parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.
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| Lerer I, et al.
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| Am J Med Genet 52 : 79-84. 1994
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| 128 | 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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| 129 | PWS, SNRPN
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| Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
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| Sutcliffe JS, et al.
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| Nat Genet 8 : 52-58. 1994
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| 130 | PWS
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| A common insertion/deletion polymorphism in the Prader-Willi syndrome minimal critical region.
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| Gabriel J, et al.
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| Hum Mol Genet 3 : 1912. 1994
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| 131 | PWS
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| A variety of genetic mechanisms are associated with the Prader-Willi syndrome.
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| Woodage T, et al.
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| Am J Med Genet 54 : 219-226. 1994
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| 132 | D15S63, PWS
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| Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.
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| Dittrich B, et al.
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| Hum Mol Genet 2 : 1995-1999. 1993
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| 133 | PWS
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| Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
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| Buiting K, et al.
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| Hum Mol Genet 2 : 1991-1994. 1993
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| 134 | 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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| 135 | PWS, D15S1
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| Characterization of a DNA sequence family in the Prader-Willy/Angelman syndrome chromosome region in 15q11-q13.
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| Dittrich B, et al.
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| Genomics 16 : 269-271. 1993
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| 136 | 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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| 137 | 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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| 138 | D15S63, PWS
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| An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.
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| Dittrich B, et al.
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| Hum Mol Genet 2 : 1509. 1993
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| 139 | PWS, GABRA5
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| FISH ordering of reference markers and of the gene for the alpha5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.
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| Knoll JHM, et al.
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| Hum Mol Genet 2 : 183-189. 1993
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| 140 | 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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| 141 | PWS
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| Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome.
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| Lai LW, Erickson RP, Cassidy SB.
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| Am J Dis Child 147(11):1217-23. 1993
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| 142 | 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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| 143 | 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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| The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
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| N Engl J Med 326 : 1599-1607. 1992
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| 145 | HERC2, HERC2P1 ,HERC2P2, HERC2P3, HERC2P4, HERC2P5, PWS
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| A putative gene family in 15q11-13 and 16p11.2 : possible implications for Prader-Willi and Angelman syndromes.
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| Buiting K, et al.
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| Proc Natl Acad Sci U S A 89 : 5457-5461. 1992
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| 146 | PWS
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| Uniparental disomy 15 resulting from correction of an initial trisomy 15.
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| Am J Hum Genet 50 : 1348-1350. 1992
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| 147 | PWS
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| Prader-Willi syndrome in a brother and sister without cytogenetic or delectable molecular genetic abnormality at chromosome 15q11q13.
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| Am J Med Genet 44 : 534-538. 1992
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| 148 | 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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| 149 | 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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| Hum Mol Genet 1(6):417-25. 1992
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| 151 | PWS
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| Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
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| 152 | PWS
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| Molecular and cytogenetic studies of the Prader-Willi syndrome.
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| Trent RJ, et al.
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| J Med Genet 28 : 649-654. 1991
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| 153 | D15S10, PWS
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| Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR).
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| Lindeman R, et al.
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| Nucleic Acids Res 19 : 5449. 1991
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| 154 | PWS
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| Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
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| Am J Hum Genet 49 : 1219-1234. 1991
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| 155 | PWS
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| Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome.
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| Gregory CA, et al.
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| Hum Genet 88 : 42-48. 1991
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| 156 | PWS
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| Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR).
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| Kirkilionis AJ, et al.
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| Genomics 9 : 524-535. 1991
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| 157 | PWS
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| Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome.
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| Clin Genet 37 : 161-166. 1990
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| 158 | PWS
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| Prader-Willi syndrome : current understanding of cause and diagnosis.
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| Am J Med Genet 35 : 319-332. 1990
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| 159 | PWS, AS
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| Am J Med Genet 35 : 333-349. 1990
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| 160 | PWS
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| Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.
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| Genomics 6 : 521-527. 1990
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| 161 | PWS
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| Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
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| Am J Med Genet 35 : 536-545. 1990
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| 162 | PWS
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| Molecular analysis in non-deletion Prader-Willi syndrome.
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| Am J Hum Genet 47 : A228. 1990
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| 163 | 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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| Knoll JHM, et al.
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| Am J Med Genet 32 : 285-290. 1989
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| 164 | PWS
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| Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome.
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| Butler MG, Jenkins BB.
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| Am J Med Genet 32 : 514-519. 1989
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| 165 | PWS
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| Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.
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| Cassidy SB, Gainey AJ, Butler MG.
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| Am J Hum Genet 44 : 806-810. 1989
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| 166 | PWS
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