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Items: 1 to 20 of 37

1.

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.

2.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
3.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
4.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Review.

PMID:
19328248
5.

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. doi: 10.1016/j.ejmg.2010.10.003. Review.

PMID:
20969981
6.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Review.

PMID:
18512078
7.

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.

8.

De novo 1q32q44 duplication and distal 1q trisomy syndrome.

Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J.

Am J Med Genet A. 2003 Jul 15;120A(2):229-33. Review.

PMID:
12833404
9.
10.

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

PMID:
17786114
11.

Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.

Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.

Am J Med Genet. 2001 Dec 1;104(3):204-8. Review.

PMID:
11754045
12.

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

de Ravel TJ, Devriendt K, Fryns JP, Vermeesch JR.

Eur J Pediatr. 2007 Jul;166(7):637-43. Review.

PMID:
17372759
13.

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.

Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE.

Am J Med Genet. 2000 Oct 2;94(4):306-10. Review.

PMID:
11038444
14.
15.

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.

Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.

Clin Dysmorphol. 2007 Jul;16(3):135-40. Review.

PMID:
17551325
16.

Microduplication 22q11.2: a new chromosomal syndrome.

Portnoï MF.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Review.

PMID:
19254783
17.

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M.

J Med Genet. 1997 Sep;34(9):783-6. Review.

18.

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

Kantarci S, Donahoe PK.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26. Review.

PMID:
17436295
19.

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22.

Park JK, Lee JI, Jo HC, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY.

Am J Med Genet A. 2007 Jul 1;143A(13):1502-9. Review.

PMID:
17567881
20.

Inverted duplication of 8p: ten new patients and review of the literature.

Feldman GL, Weiss L, Phelan MC, Schroer RJ, Van Dyke DL.

Am J Med Genet. 1993 Sep 15;47(4):482-6. Review.

PMID:
8256810
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