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Items: 1 to 20 of 109

1.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

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.

Am J Med Genet A. 2013 Mar;161A(3):487-500. doi: 10.1002/ajmg.a.35767. Epub 2013 Jan 23.

PMID:
23345203
2.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL.

Am J Med Genet A. 2015 Sep;167A(9):2052-64. doi: 10.1002/ajmg.a.37120. Epub 2015 Jun 11.

PMID:
26097203
3.

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

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.

Eur J Hum Genet. 2008 Jan;16(1):18-27. Epub 2007 Oct 17.

4.

8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly.

Zhang Y, Li Y, Wang Y, Shan B, Duan Y.

Am J Med Genet A. 2013 Mar;161A(3):561-5. doi: 10.1002/ajmg.a.35596. Epub 2013 Feb 12.

PMID:
23404914
5.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27.

6.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

7.

Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.

Eyüpoğlu FC, Sünnetçi D, Cine N, Savli H, Okten A, Açikgöz EG, Sönmez FM.

Genet Couns. 2014;25(3):305-13.

PMID:
25365853
8.

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Sireteanu A, Braha E, Popescu R, Gramescu M, Gorduza EV, Rusu C.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):731-4.

PMID:
24502041
9.

Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.

Kasnauskiene J, Cimbalistiene L, Utkus A, Ciuladaite Z, Preiksaitiene E, Pečiulytė A, Kučinskas V.

Cytogenet Genome Res. 2013;139(1):52-8. doi: 10.1159/000342544. Epub 2012 Oct 2.

PMID:
23036992
10.

Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.

Kowalczyk M, Tomaszewska A, Podbioł-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kałużewski B, Zajączek S, Srebniak MI.

Cytogenet Genome Res. 2013;139(1):9-16. doi: 10.1159/000342165. Epub 2012 Sep 5.

PMID:
22965227
11.

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

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.

Eur J Hum Genet. 2005 May;13(5):690-3. Review.

12.

[Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].

Mei M, Yang L, Zhan G, Wang H, Ma D, Zhou W, Huang G.

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):460-3. Chinese.

PMID:
25190168
13.
14.

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.

Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.

PMID:
21744490
15.

Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

Páez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R.

Am J Med Genet A. 2008 May 1;146A(9):1158-65. doi: 10.1002/ajmg.a.32205.

PMID:
18393291
16.

Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.

Yu S, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY.

Circ Cardiovasc Genet. 2011 Dec;4(6):620-5. doi: 10.1161/CIRCGENETICS.111.960302. Epub 2011 Sep 20.

17.

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.

Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M.

Am J Med Genet A. 2012 Jul;158A(7):1713-8. doi: 10.1002/ajmg.a.35400. Epub 2012 May 25.

PMID:
22639464
18.

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC.

Eur J Hum Genet. 2009 Jan;17(1):37-43. doi: 10.1038/ejhg.2008.133. Epub 2008 Aug 20.

19.

A new case of pure partial 7q duplication.

Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F.

Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12.

PMID:
22086126
20.

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T.

Eur J Hum Genet. 2005 Oct;13(10):1131-6.

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