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Items: 1 to 20 of 23

1.

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.

Eur J Med Genet. 2007 Jul-Aug;50(4):256-63. Epub 2007 May 18.

PMID:
17576104
2.

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C.

Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278. Review.

PMID:
18384146
3.

Duplication of 5q15-q23.2: case report and literature review.

Douyard J, Hawley P, Shaham M, Kimonis V.

Birth Defects Res A Clin Mol Teratol. 2006 Apr;76(4):272-6. Review.

PMID:
16602097
4.

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion.

Maurin ML, Labrune P, Brisset S, Le Lorc'h M, Pineau D, Castel C, Romana S, Tachdjian G.

Am J Med Genet A. 2009 Feb;149A(2):226-31. doi: 10.1002/ajmg.a.32603. Review.

PMID:
19161154
5.

A female infant with duplication of chromosome 2q33 to 2q37.3.

Slavotinek AM, Boles D, Lacbawan F.

Clin Dysmorphol. 2003 Oct;12(4):251-6. Review.

PMID:
14564213
6.

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R.

Am J Med Genet A. 2006 Mar 15;140(6):611-7. Review.

PMID:
16470743
7.

[New chromosomal syndromes].

Schluth-Bolard C, Till M, Edery P, Sanlaville D.

Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Review. French.

PMID:
18467039
8.

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Balasubramanian M, Barber JC, Collinson MN, Huang S, Maloney VK, Bunyan D, Foulds N.

Am J Med Genet A. 2009 Feb 15;149A(4):793-7. doi: 10.1002/ajmg.a.32463. Review. No abstract available.

PMID:
19248177
9.

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I.

Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. Review.

PMID:
18478588
10.

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Deak KL, Horn SR, Rehder CW.

Clin Lab Med. 2011 Dec;31(4):543-64, viii. doi: 10.1016/j.cll.2011.08.008. Epub 2011 Oct 20. Review.

PMID:
22118736
11.

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
12.

From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome.

Kalinderi K, Fidani L, Bostantjopoulou S.

Parkinsonism Relat Disord. 2009 Jan;15(1):2-5. doi: 10.1016/j.parkreldis.2008.03.001. Epub 2008 Apr 18. Review.

PMID:
18424220
13.

Mild phenotype due to tandem duplication of l7p11.2.

Schneider MC, Hughes CR, Forrester S, Kimonis V.

Am J Med Genet. 2000 Oct 2;94(4):296-9. Review.

PMID:
11038442
14.

[9p trisomy syndrome].

Hada S, Abe T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):320-1. Review. Japanese. No abstract available.

PMID:
11057245
15.

Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists.

Godinho RN, Keogh IJ, Morales GM, Calixto N, Gonçalves TM.

Ear Nose Throat J. 2004 Nov;83(11):748, 750, 752. Review.

PMID:
15628630
16.

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T, Kosaki K.

Am J Med Genet A. 2014 Feb;164A(2):456-60. doi: 10.1002/ajmg.a.36240. Epub 2013 Nov 25. Review.

PMID:
24449200
17.

The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-244. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.

18.

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions.

Baynam G, Goldblatt J, Townshend S.

Clin Dysmorphol. 2006 Jul;15(3):145-8. Review.

PMID:
16760732
19.

Tandem duplication of proximal 5q.

Rojas-Martinez A, Garcia-Cruz D, Medina C, Moller M, Restrepo CM, Rivera H.

Ann Genet. 1990;33(4):228-30. Review.

PMID:
1710431
20.

Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism.

Maurer B, Haaf T, Stout K, Reissmann N, Steinlein C, Schmid M.

Cytogenet Cell Genet. 2001;93(3-4):182-7. Review.

PMID:
11528110

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