| 1 | DUP14QP, FOXG1, UPD14M
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| West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
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| Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S.
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| Am J Med Genet A 155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9.
2011
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| 2 | DEL14Q32, UPD14M
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| A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
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| Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ.
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| Hum Mol Genet um Mol Genet. 2010 Mar 2. [Epub ahead of print]PMID: 20179077 2010
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| 3 | 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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| 4 | UPD14M
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| Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
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| Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
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| Eur J Hum Genet ur J Hum Genet. 2008 May 14. [Epub ahead of print] 2008
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| 5 | UPD14M
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| Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
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| Buiting K, Kanber D, Mart’n-Subero JI, Lieb W, Terhal P, Albrecht B, Purmann S, Gross S, Lich C, Siebert R, Horsthemke B, Gillessen-Kaesbach G.
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| Hum Mutat um Mutat. 2008 May 2. [Epub ahead of print] 2008
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| 6 | UPD14M, DLK1
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| Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
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| Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ.
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| J Med Genet 44(10):637-40. Epub 2007 Jun 29. 2007
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| 7 | UPD14M
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| Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
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| Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G.
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| Am J Med Genet A 140A(19):2039-2049 [Epub ahead of print] 2006
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| 8 | 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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| 9 | UPD14M
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| Maternal uniparental disomy chromosome 14: case report and literature review.
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| Falk MJ, Curtis CA, Bass NE, Zinn AB, Schwartz S.
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| Pediatr Neurol 32(2):116-20. Review. 2005
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| 10 | UPD14M
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| Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty.
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| Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T.
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| Am J Med Genet A 135(3):336-8. No abstract available. 2005
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| 11 | 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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| 12 | UPD14M, PWS
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| 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.
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| Cox H, Bullman H, Temple IK.
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| Am J Med Genet A 127(1):21-5. 2004
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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | UPD14M
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| Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
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| Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N.
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| J Med Genet 37(7):525-8. 2000
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| 18 | 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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| 19 | UPD14M
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| A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
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| Manzoni MF, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R.
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| Clin Genet 57(5):406-8. No abstract available. 2000
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| 20 | UPD14M, PWS
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| Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
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| Berends MJ, et al.
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| Am J Med Genet 84(1):76-9. No abstract available 1999
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| 21 | UPD14M
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| Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
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| Hordijk R, et al.
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| J Med Genet 36(10):782-5 1999
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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 | UPD14M
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| Another case of maternal uniparental disomy chromosome 14 syndrome.
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| Splitt MP, Goodship JA.
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| Am J Med Genet 72(2):239-40. 1997
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| 24 | UPD14M
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| Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.
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| Tomkins DJ, et al.
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| Eur J Hum Genet 4 : 153-159. 1996
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| 25 | UPD14M
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| Uniparental isodisomy of chromosome 14 in two cases : an abnormal child and a normal adult.
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| Papenhausen PR, et al.
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| Am J Med Genet 59 : 271-275. 1995
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| 26 | UPD14M
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| Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q).
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| Stallard R, Krueger S, James RS, Schwartz S.
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| Am J Med Genet 57(1):14-8. 1995
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| 27 | UPD14M
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| Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.
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| Sirchia SM, et al.
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| Hum Genet 94 : 355-358. 1994
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| 28 | UPD14M
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| Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.
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| Antonarakis SE, et al.
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| Am J Hum Genet 52 : 1145-1152. 1993
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| 29 | ACHM1, UPD14M
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| Maternal uniparental isodisomy of chromosome 14 : association with autosomal recessive rod monochromacy.
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| Pentao L, et al.
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| Am J Hum Genet 50 : 690-699. 1992
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| 30 | UPD14M
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| Maternal uniparental disomy for chromosome 14.
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| Temple IK, et al.
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| J Med Genet 28 : 511-514. 1991
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