| 1 | DUP8P23
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| 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
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| Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN.
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| Am J Med Genet A m J Med Genet A. 2013 Jan 23. doi: 10.1002/ajmg.a.35767. [Epub ahead of print]
2013
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| 2 | DUP8P23
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| 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
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| Barber JC, Bunyan D, Curtis M, Robinson D, Morlot S, Dermitzel A, Liehr T, Alves C, Trindade J, Paramos AI, Cooper C, Ocraft K, Taylor EJ, Maloney VK.
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| Mol Cytogenet 3:3.PMID: 20167067 2010
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| 3 | DUP8P23, INVDUPDEL8P
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| Genomic profile of copy number variants on the short arm of human chromosome 8.
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| Yu S, Fiedler S, Stegner A, Graf WD.
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| Eur J Hum Genet 18(10):1114-20. Epub 2010 May 12.PMID: 20461109 2010
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| 4 | DUP8P23, INVDUPDEL8P
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| Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
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| Hand M, Gray C, Glew G, Tsuchiya KD.
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| Am J Med Genet A 152A(11):2827-31.PMID: 20830805 2010
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| 5 | DUP8P23, MCPH1
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| Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
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| Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC.
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| Eur J Hum Genet 17(1):37-43. Epub 2008 Aug 20.
2009
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| 6 | DEFA1, DEFA3, DEFA@, DUP8P23
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| High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.
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| Groth M, Szafranski K, Taudien S, Huse K, Mueller O, Rosenstiel P, Nygren AO, Schreiber S, Birkenmeier G, Platzer M.
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| Hum Mutat 29(10):1247-54. 2008
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| 7 | DUP8P23, NMLFS
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| 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
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| Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.
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| Eur J Hum Genet 16(1):18-27. Epub 2007 Oct 17. 2008
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| 8 | DEFB103A, DEFB104A, DEFB105A, DEFB106A, DEFB107A, DEFB4A, DUP8P23, SPAG11B
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| Psoriasis is associated with increased beta-defensin genomic copy number.
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| Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J.
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| Nat Genet 40(1):23-5. Epub 2007 Dec 2. 2008
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| 9 | DUP8P23
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| Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities.
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| Basinko A, Douet-Guilbert N, Le Bris MJ, Parent P, Ansquer H, Morel F, De Braekeleer M.
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| Am J Med Genet A 146A(22):2950-4. No abstract available.
2008
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| 10 | DEL8P23, DUP8P23
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| Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.
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| Hollox EJ, Barber JC, Brookes AJ, Armour JA.
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| Genome Res 18(11):1686-97. Review.PMID: 18974263 2008
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| 11 | DEFB4A, DUP8P23
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| A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.
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| Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, Radlwimmer B, Stange EF.
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| Am J Hum Genet 79(3):439-48. Epub 2006 Jul 12. 2006
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| 12 | KMS, DUP8P23, DEFA1, DEFA3
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| Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
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| Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C.
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| Eur J Hum Genet 13(5):690-3. 2005
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| 13 | DUP8P23, DEFA1
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| Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
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| Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T.
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| Eur J Hum Genet 13(10):1131-1136. 2005
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| 14 | DEL13Q21, DUP13Q, DUP8P23
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| Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.
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| Barber JC.
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| J Med Genet 42(8):609-29. Review. 2005
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| 15 | KMS, DUP8P23
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| Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
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| Milunsky JM, Huang XL.
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| Clin Genet 64(6):509-16. 2003
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| 16 | DUP8P23
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| Duplication of 8p23.2: a benign cytogenetic variant?
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| Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N.
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| Am J Med Genet 111(3):285-8. 2002
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| 17 | DUP8P23
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| Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.
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| Fan YS, Siu VM, Jung JH, Farrell SA, Cote GB.
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| Am J Med Genet 103(3):231-4. 2001
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| 18 | DUP8P23
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| Duplication of chromosome region 8p23.1-->p23.3: a benign variant?
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| Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ.
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| Am J Med Genet 91(1):18-21. 2000
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| 19 | DUP8P23
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| Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.
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| Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE.
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| Am J Med Genet 94(4):306-10. Review. 2000
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| 20 | DUP8P23
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| Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
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| Barber JC, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JR, Dennis NR.
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| J Med Genet 35(6):491-6. 1998
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| 21 | DUP8P23
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| Direct transmission of a tandem duplication in the short arm of chromosome 8.
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| Dhooge C, Van Roy N, Craen M, Speleman F.
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| Clin Genet 45(1):36-9. 1994
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