Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 148

1.

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.

2.

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572.

PMID:
19006218
3.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629
4.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A.

Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2.

PMID:
18414210
5.
6.

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.

7.

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.

8.

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.

Dempsey MA, Schwartz S, Waggoner DJ.

Am J Med Genet A. 2007 May 15;143A(10):1082-6.

PMID:
17431914
9.

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.

Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ.

Genet Med. 2014 Jan;16(1):92-100. doi: 10.1038/gim.2013.79. Epub 2013 Jun 13.

PMID:
23765049
10.

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.

Gene. 2014 Feb 15;536(1):213-6. doi: 10.1016/j.gene.2013.11.051. Epub 2013 Dec 4.

PMID:
24315824
11.

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M.

Am J Med Genet A. 2006 Nov 15;140(22):2426-32.

PMID:
17041934
12.

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.

Molck MC, Vieira TP, Simioni M, Sgardioli IC, dos Santos AP, Xavier AC, Gil-da-Silva-Lopes VL.

Am J Med Genet A. 2015 Jan;167A(1):215-20. doi: 10.1002/ajmg.a.36809. Epub 2014 Oct 30.

PMID:
25358462
13.

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.

14.

Rearrangement in 22q11 implicated in Iranian patients with mental retardation.

Mona M, Mehrdad N, Mehrdad B, Elham N, Khazamipour N.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1604-9. doi: 10.1016/j.ijporl.2012.07.029. Epub 2012 Aug 30.

PMID:
22939590
15.

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.

Burnside RD.

Cytogenet Genome Res. 2015;146(2):89-99. doi: 10.1159/000438708. Epub 2015 Aug 8. Review.

16.

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.

Leite AJ, Pinto IP, Cunha DM, Ribeiro CL, da Silva CC, da Cruz AD, Minasi LB.

Biomed Res Int. 2016;2016:7415438. doi: 10.1155/2016/7415438. Epub 2016 Mar 31.

17.

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L.

Gene. 2015 Sep 10;569(1):46-50. doi: 10.1016/j.gene.2015.04.090. Epub 2015 Jun 20.

PMID:
26099517
18.

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.

Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14.

PMID:
22796526
19.

22q11.2 Microduplication with thyroid hemiagenesis.

Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH.

Horm Res Paediatr. 2013;79(4):243-9. doi: 10.1159/000346411. Epub 2013 Jan 25.

PMID:
23364243
20.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC.

Genome Res. 2007 Apr;17(4):482-91. Epub 2007 Mar 9.

Supplemental Content

Support Center