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Items: 1 to 20 of 53

1.

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.

Hasten E, McDonald-McGinn DM, Crowley TB, Zackai E, Emanuel BS, Morrow BE, Racedo SE.

Hum Mol Genet. 2018 Jun 1;27(11):1847-1857. doi: 10.1093/hmg/ddy078.

PMID:
29509905
2.

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT.

NPJ Genom Med. 2017 Sep 28;2:28. doi: 10.1038/s41525-017-0031-6. eCollection 2017.

3.

DNA Methylation Landscape Reflects the Spatial Organization of Chromatin in Different Cells.

Zhang L, Xie WJ, Liu S, Meng L, Gu C, Gao YQ.

Biophys J. 2017 Oct 3;113(7):1395-1404. doi: 10.1016/j.bpj.2017.08.019.

PMID:
28978434
4.

The Mammalian Septin Interactome.

Neubauer K, Zieger B.

Front Cell Dev Biol. 2017 Feb 7;5:3. doi: 10.3389/fcell.2017.00003. eCollection 2017. Review.

5.

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Vergés L, Vidal F, Geán E, Alemany-Schmidt A, Oliver-Bonet M, Blanco J.

Sci Rep. 2017 Jan 6;7:40031. doi: 10.1038/srep40031.

6.

Genetic Advances in the Understanding of Microtia.

Gendron C, Schwentker A, van Aalst JA.

J Pediatr Genet. 2016 Dec;5(4):189-197. Epub 2016 Sep 23. Review.

7.

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.

Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.

Mol Cytogenet. 2016 Aug 8;9:61. doi: 10.1186/s13039-016-0273-5. eCollection 2016.

8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

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