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Results: 1 to 20 of 116

1.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE.

Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Erratum in: Am J Hum Genet. 2013 Apr 4;92(4):637. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

PMID:
23453669
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW.

Hum Mol Genet. 2008 Dec 15;17(24):4045-53. doi: 10.1093/hmg/ddn307. Epub 2008 Sep 20. Erratum in: Hum Mol Genet. 2009 May 1;18(9):1717.

PMID:
18806272
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.

Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA.

Am J Med Genet A. 2004 Jan 30;124A(3):313-7.

PMID:
14708107
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

Cuneo BF.

Curr Opin Pediatr. 2001 Oct;13(5):465-72. Review. Erratum in: Curr Opin Pediatr 2002 Apr;14(2):286.

PMID:
11801894
[PubMed - indexed for MEDLINE]
5.

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA.

Mol Cell Biochem. 2007 Sep;303(1-2):9-17. Epub 2007 Apr 11.

PMID:
17426930
[PubMed - indexed for MEDLINE]
6.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A.

Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014.

PMID:
18179902
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A 3rd, Butler MG, Cooley LD.

Cytogenet Genome Res. 2009;124(2):113-20. doi: 10.1159/000207515. Epub 2009 May 5.

PMID:
19420922
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.

J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5.

PMID:
23042811
[PubMed - indexed for MEDLINE]
9.

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA.

Curr Opin Pediatr. 1994 Dec;6(6):702-6. Review.

PMID:
7849818
[PubMed - indexed for MEDLINE]
10.

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Demczuk S, Lévy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G, et al.

Hum Genet. 1995 Jul;96(1):9-13. Review.

PMID:
7607662
[PubMed - indexed for MEDLINE]
11.

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Emanuel BS.

Dev Disabil Res Rev. 2008;14(1):11-8. doi: 10.1002/ddrr.3. Review.

PMID:
18636632
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS.

Hum Mol Genet. 2004 Feb 15;13(4):417-28. Epub 2003 Dec 17.

PMID:
14681306
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.

Das Chakraborty R, Bernal AJ, Schoch K, Howard TD, Ip EH, Hooper SR, Keshavan MS, Jirtle RL, Shashi V.

Transl Psychiatry. 2012 Apr 24;2:e105. doi: 10.1038/tp.2012.31. Erratum in: Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected to Das Chakraborty, R].

PMID:
22832905
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

DiGeorge syndrome: new insights.

Goldmuntz E.

Clin Perinatol. 2005 Dec;32(4):963-78, ix-x. Review.

PMID:
16325672
[PubMed - indexed for MEDLINE]
15.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG.

Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3.

PMID:
19193630
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.

Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.

In Vivo. 2004 Sep-Oct;18(5):603-8.

PMID:
15523900
[PubMed - indexed for MEDLINE]
Free Article
17.

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH.

Genet Med. 2001 Jan-Feb;3(1):23-9.

PMID:
11339373
[PubMed - indexed for MEDLINE]
18.

AT-rich palindromes mediate the constitutional t(11;22) translocation.

Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE.

Am J Hum Genet. 2001 Jan;68(1):1-13. Epub 2000 Nov 28.

PMID:
11095996
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.

Eur J Hum Genet. 2006 Jul;14(7):831-7. Epub 2006 Apr 12.

PMID:
16617304
[PubMed - indexed for MEDLINE]
Free Article
20.

Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE.

Pediatrics. 2003 Oct;112(4):e325.

PMID:
14523220
[PubMed - indexed for MEDLINE]

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