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Items: 10

1.

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.

Cheung HC, Yatsenko SA, Kadapakkam M, Legay H, Su J, Lupski JR, Plon SE.

Pediatr Blood Cancer. 2012 May;58(5):801-5. doi: 10.1002/pbc.23219. Epub 2011 Jun 16.

2.

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.

Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18. Review.

PMID:
24055486
3.

Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature.

Natera-de Benito D, Fons C, Ulate-Campos A, Martorell L, Póo P.

Clin Dysmorphol. 2015 Jan;24(1):38-43. doi: 10.1097/MCD.0000000000000064. Review. No abstract available.

PMID:
25380321
4.

The chromosome 9q subtelomere deletion syndrome.

Stewart DR, Kleefstra T.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review.

PMID:
17910072
5.

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
6.

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U.

Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Review.

PMID:
25691408
7.

Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene.

von Lindern M, Fornerod M, Soekarman N, van Baal S, Jaegle M, Hagemeijer A, Bootsma D, Grosveld G.

Baillieres Clin Haematol. 1992 Oct;5(4):857-79. Review.

PMID:
1308167
8.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L.

Am J Med Genet A. 2014 Aug;164A(8):2097-103. doi: 10.1002/ajmg.a.36598. Epub 2014 May 6. Review.

PMID:
24800990
9.

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L.

Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Review.

PMID:
24035902
10.

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.

Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F.

Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17. Review.

PMID:
21416588

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