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Items: 1 to 20 of 152

1.

A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M.

Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6.

PMID:
23051634
2.

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT.

Eur J Med Genet. 2011 Sep-Oct;54(5):e521-4. doi: 10.1016/j.ejmg.2011.06.007. Epub 2011 Jul 12.

PMID:
21777705
3.

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
4.

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.

Am J Med Genet A. 2007 Oct 15;143A(20):2417-22.

PMID:
17853488
5.

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

Mowat D, Jauch A, Robson L, Smith A.

Am J Med Genet. 1999 Apr 23;83(5):361-4.

PMID:
10232743
6.

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

Goodman BK, Capone GT, Hennessey J, Thomas GH.

Am J Med Genet. 1997 Dec 12;73(2):119-24.

PMID:
9409859
7.

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
8.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

9.

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC.

Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17.

PMID:
21684358
10.

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.

PMID:
18266247
11.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.

Clin Genet. 1994 Dec;46(6):423-9. Review.

PMID:
7889659
12.

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.

Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE.

Am J Med Genet A. 2014 Jul;164A(7):1770-6. doi: 10.1002/ajmg.a.36495. Epub 2014 Mar 26. Review.

PMID:
24677787
14.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

16.

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.

Amasdl S, Natiq A, Elalaoui SC, Sbiti A, Liehr T, Sefiani A.

J Med Case Rep. 2016 May 13;10(1):122. doi: 10.1186/s13256-016-0830-x.

17.

A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

Hellani A, Mohamed S, Al-Akoum S, Bosley TM, Abu-Amero KK.

Am J Med Genet A. 2010 Jun;152A(6):1555-60. doi: 10.1002/ajmg.a.33400.

PMID:
20503335
18.

Report on 3 patients with 12p duplication including GRIN2B.

Poirsier C, Landais E, Bednarek N, Nobecourt JM, Khoury M, Schmidt P, Morville P, Gruson N, Clomes S, Michel N, Riot A, Manjeongean C, Gaillard D, Doco-Fenzy M.

Eur J Med Genet. 2014 Apr;57(5):185-94. doi: 10.1016/j.ejmg.2013.12.009. Epub 2014 Feb 3.

PMID:
24503147
19.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
20.

Array-CGH study of partial trisomy 9p without mental retardation.

Bouhjar IB, Hannachi H, Zerelli SM, Labalme A, Gmidène A, Soyah N, Missaoui S, Sanlaville D, Elghezal H, Saad A.

Am J Med Genet A. 2011 Jul;155A(7):1735-9. doi: 10.1002/ajmg.a.34044. Epub 2011 May 27.

PMID:
21626676

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