| 1 | UPD14P
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| Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
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| Harrison V, Hurst J, Lloyd-Jani A, Lester T, Lever M, Man S, O'Rourke A, Robinson D, Tabiner M, Williams R, Kini U.
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| Clin Dysmorphol 21(4):208-11. No abstract available.
2012
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| 2 | DLK1, MEG3, UPD14P
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| Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.
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| Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T.
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| Eur J Hum Genet 20(9):928-32. doi: 10.1038/ejhg.2012.26. Epub 2012 Feb 22.
2012
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| 3 | UPD14P
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| Prenatal findings of paternal uniparental disomy 14: Report of four patients.
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| Yamanaka M, Ishikawa H, Saito K, Maruyama Y, Ozawa K, Shibasaki J, Nishimura G, Kurosawa K.
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| Am J Med Genet A 152A(3):789-91. No abstract available. PMID: 20186803 2010
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| 4 | UPD14P
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| Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
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| Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN, Oakey RJ.
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| Am J Med Genet A 152A(8):1942-50.PMID: 20602488 2010
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| 5 | UPD14P
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| Prenatal findings of paternal uniparental disomy 14: Delineation of further patient.
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| Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
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| Am J Med Genet A 152A(12):3189-92. No abstract available. PMID: 21108407 2010
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| 6 | UPD14M, UPD14P, DLK1, RTL1
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| Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
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| Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T.
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| Nat Genet 40(2):237-42. Epub 2008 Jan 6. 2008
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| 7 | DUP10QD, UPD14P
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| Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
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| Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.
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| Eur J Med Genet 51(2):113-23. Epub 2008 Jan 4. 2008
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| 8 | UPD14P
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| Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.
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| Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M.
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| Am J Med Genet A 143(18):2165-71. 2007
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| 9 | UPD14P
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| Prenatal diagnostic indicators of paternal uniparental disomy 14.
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| Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S.
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| Prenat Diagn [Epub ahead of print] 2006
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| 10 | UPD6P, UPD7M, SRS11, BWS, UPD14M, UPD14P, UPD16, UPD22, UPDXM,
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| Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated.
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| Kotzot D, Utermann G.
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| Am J Med Genet A 136(3):287-305. 2005
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| 11 | UPD14P
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| Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.
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| Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T.
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| Am J Med Genet A 138(2):127-32. Review. 2005
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| 12 | UPD14P
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| Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.
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| Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N.
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| Am J Med Genet A 130(1):88-91. 2004
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| 13 | UPD14P
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| Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.
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| Chu C, Schwartz S, McPherson E.
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| Am J Med Genet A 127(2):167-71. 2004
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| 14 | UPD14M, UPD14P
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| Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
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| Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F, Calzolari E.
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| Prenat Diagn 24(8):647-52. 2004
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| 15 | UPD14M, UPD14P
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| Epigenetic detection of human chromosome 14 uniparental disomy.
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| Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL.
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| Hum Mutat 22(1):92-7. 2003
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| 16 | UPD14P
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| Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).
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| Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ.
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| Hum Genet 113(5):447-51. Epub 2003 Aug 21. 2003
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| 17 | DLK1, MEG3, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113@, TRCD0, TRCD1, TRCD2, UPD14M, UPD14P
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| Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region.
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| Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP.
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| Hum Mol Genet 11(13):1527-38. 2002
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| 18 | UPD14P, DLK1
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| Paternal UPD14 is responsible for a distinctive malformation complex.
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| Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G.
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| Am J Med Genet 110(3):268-72. 2002
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| 19 | UPD14M, UPD14P
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| Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.
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| Kotzot D.
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| Clin Genet 60(3):226-31. 2001
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| 20 | UPD14M, UPD14P
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| Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.
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| Kotzot D.
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| J Med Genet 38(8):497-507. Review. 2001
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| 21 | UPD14M, UPD14P
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| Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
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| Sutton VR, Shaffer LG.
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| Am J Med Genet 93(5):381-7. Review. 2000
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| 22 | UPD14M, UPD14P
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| Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.
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| Kotzot D.
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| Am J Med Genet 82(3):265-74. Review. 1999
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| 23 | UPD14P
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| Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.
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| Wang JC, et al.
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| Am J Hum Genet 48 : 1069-1074. 1991
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