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Items: 1 to 20 of 46

1.

Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.

Zhang J, Ma D, Wang Y, Cao L, Wu Y, Qiao F, Liu A, Li L, Lin Y, Liu G, Liu C, Hu P, Xu Z.

Mol Cytogenet. 2015 Dec 29;8:100. doi: 10.1186/s13039-015-0209-5. eCollection 2015.

2.

Small supernumerary marker chromosomes and their correlation with specific syndromes.

Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P.

Adv Biomed Res. 2015 Jul 27;4:140. doi: 10.4103/2277-9175.161542. eCollection 2015. Review.

3.

Cat eye syndrome.

Sharma D, Murki S, Pratap T, Vasikarla M.

BMJ Case Rep. 2014 May 19;2014. pii: bcr2014203923. doi: 10.1136/bcr-2014-203923.

4.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

5.

Clinical impact of proximal autosomal imbalances.

Hamid A, Weise A, Voigt M, Bucksch M, Kosyakova N, Liehr T, Klein E.

Balkan J Med Genet. 2012 Dec;15(2):15-22. doi: 10.2478/bjmg-2013-0002.

6.

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice.

Freyer L, Nowotschin S, Pirity MK, Baldini A, Morrow BE.

BMC Dev Biol. 2013 Aug 23;13:33. doi: 10.1186/1471-213X-13-33.

7.

PIK3CA mutations in hepatocellular carcinoma in Korea.

Kim H, Park CK, Lee SJ, Rha SY, Park KH, Lim HY.

Yonsei Med J. 2013 Jul;54(4):883-7. doi: 10.3349/ymj.2013.54.4.883.

8.

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Capra V, Mascelli S, Garrè ML, Nozza P, Vaccari C, Bricco L, Sloan-Béna F, Gimelli S, Cuoco C, Gimelli G, Tassano E.

PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6.

9.

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

Sedghi M, Nouri N, Abdali H, Memarzadeh M, Nouri N.

J Res Med Sci. 2012 Mar;17(3):310-2.

10.

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.

Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R.

Mol Syndromol. 2012 Sep;3(3):131-135. Epub 2012 Aug 1.

11.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

12.

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.

Simrick S, Szumska D, Gardiner JR, Jones K, Sagar K, Morrow B, Bhattacharya S, Basson MA.

Dev Dyn. 2012 Aug;241(8):1310-24. doi: 10.1002/dvdy.23812. Epub 2012 Jun 26.

13.

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A.

Mol Syndromol. 2011 Dec;2(1):35-44. Epub 2011 Dec 5.

14.

Fenfluramine-induced gene dysregulation in human pulmonary artery smooth muscle and endothelial cells.

Yao W, Mu W, Zeifman A, Lofti M, Remillard CV, Makino A, Perkins DL, Garcia JG, Yuan JX, Zhang W.

Pulm Circ. 2011 Jul-Sep;1(3):405-18. doi: 10.4103/2045-8932.87310.

15.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J.

Mol Syndromol. 2010;1(5):246-254. Epub 2011 May 18.

16.

Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome.

Magnée MJ, Lamme VA, de Sain-van der Velden MG, Vorstman JA, Kemner C.

PLoS One. 2011;6(10):e25882. doi: 10.1371/journal.pone.0025882. Epub 2011 Oct 5.

17.

Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.

Wessman M, Forsblom C, Kaunisto MA, Söderlund J, Ilonen J, Sallinen R, Hiekkalinna T, Parkkonen M, Maxwell AP, Tarnow L, Parving HH, Hadjadj S, Marre M, Peltonen L, Groop PH; FinnDiane Study Group.

PLoS One. 2011;6(9):e24053. doi: 10.1371/journal.pone.0024053. Epub 2011 Sep 1.

18.

Characterization of the past and current duplication activities in the human 22q11.2 region.

Guo X, Freyer L, Morrow B, Zheng D.

BMC Genomics. 2011 Jan 26;12:71. doi: 10.1186/1471-2164-12-71.

19.

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW.

Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110.

20.

Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.

Ko JM, Kim JB, Pai KS, Yun JN, Park SJ.

J Korean Med Sci. 2010 Dec;25(12):1798-801. doi: 10.3346/jkms.2010.25.12.1798. Epub 2010 Nov 24.

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