PubMed

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.

Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M.

Behav Brain Funct. 2008 Feb 19;4:10.PMID: 18284679 [PubMed - in process]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Detailed analysis of 22q11.2 with a high density MLPA probe set.

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.

Hum Mutat. 2008 Mar;29(3):433-40.PMID: 18033723 [PubMed - indexed for MEDLINE]Related articlesFree article

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M.

BMC Med Genet. 2009 Dec 23;10:144.PMID: 20030804 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.

Eur J Med Genet. 2010 Jan 4. [Epub ahead of print]PMID: 20045748 [PubMed - as supplied by publisher]Related articles

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.

BMC Med Genomics. 2008 Oct 16;1:50.PMID: 18925931 [PubMed]Related articlesFree article

Concurrent microdeletion and duplication of 22q11.2.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.

Clin Genet. 2008 Jul;74(1):61-7. Epub 2008 Apr 28.PMID: 18445048 [PubMed - indexed for MEDLINE]Related articles

Distal 22q11.2 microduplication encompassing the BCR gene.

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

Am J Med Genet A. 2008 Dec 1;146A(23):3075-81.PMID: 19006218 [PubMed - indexed for MEDLINE]Related articles

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM.

Am J Hum Genet. 2003 Nov;73(5):1027-40. Epub 2003 Oct 2.PMID: 14526392 [PubMed - indexed for MEDLINE]Related articlesFree article

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, Ebert AK, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M.

Eur J Med Genet. 2010 Jan 10. [Epub ahead of print]PMID: 20060941 [PubMed - as supplied by publisher]Related articles

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.PMID: 18414210 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Feb 3.PMID: 19193630 [PubMed - indexed for MEDLINE]Related articles

Microduplication 22q11.2: a new chromosomal syndrome.

Portnoï MF.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. Epub 2009 Feb 28. Review.PMID: 19254783 [PubMed - indexed for MEDLINE]Related articles

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.

Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G.

Am J Med Genet A. 2007 Jan 15;143(2):129-34.PMID: 17163526 [PubMed - indexed for MEDLINE]Related articles

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.

Am J Med Genet A. 2007 Dec 15;143A(24):2924-30.PMID: 18000985 [PubMed - indexed for MEDLINE]Related articles

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.

Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.

Cardiol Young. 2009 Apr;19(2):179-84. Epub 2009 Feb 19.PMID: 19224675 [PubMed - indexed for MEDLINE]Related articles

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.

Clin Genet. 2007 Feb;71(2):177-82.PMID: 17250668 [PubMed - indexed for MEDLINE]Related articles

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.

Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.

Hum Mutat. 2005 Aug;26(2):78-83.PMID: 15957176 [PubMed - indexed for MEDLINE]Related articles

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.

Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, Vogel I.

Acta Obstet Gynecol Scand. 2008;87(11):1252-5.PMID: 18951212 [PubMed - indexed for MEDLINE]Related articles