| 1 | DUP22Q11, RAB36
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| The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.
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| Piccione M, Vecchio D, Cavani S, Malacarne M, Pierluigi M, Corsello G.
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| Am J Med Genet A 155(12):3054-9. doi: 10.1002/ajmg.a.34275. Epub 2011 Oct 14.
2011
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| 2 | DUP22Q11
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| Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
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| 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.
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| Eur J Med Genet 53(2):55-60. Epub 2010 Jan 10.PMID: 20060941 2010
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| 3 | DUP22Q11
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| 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
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| Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.
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| Eur J Med Genet 53(2):61-5. Epub 2010 Jan 4.PMID: 20045748 2010
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| 4 | DUP15Q12, DUP15Q13, DUP15Q14, DUP17P11, DUP22Q11, DUP7Q11
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| Common recurrent microduplication syndromes: diagnosis and management in clinical practice.
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| Berg JS, Potocki L, Bacino CA.
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| Am J Med Genet A 152A(5):1066-78.PMID: 20425813 2010
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| 5 | CES, DUP22Q11
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| Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
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| Jezela-Stanek A, Dobrzañska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
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| Clin Dysmorphol 18(1):13-7.
2009
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| 6 | DUP22Q11
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| Microduplication 22q11.2: a new chromosomal syndrome.
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| Portnoï MF.
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| Eur J Med Genet 52(2-3):88-93. Epub 2009 Feb 28.
2009
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| 7 | DUP22Q11
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| Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.
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| Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D.
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| Clin Genet 73(2):160-4. Epub 2007 Dec 12. 2008
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| 8 | DUP22Q11
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| Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?-Report of two families.
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| Courtens W, Schramme I, Laridon A.
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| Am J Med Genet A 146A(6):758-763 [Epub ahead of print] 2008
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| 9 | CES, DUP22Q11
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| Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
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| Raca G, Schimmenti L, Martin CL.
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| Am J Med Genet A 146(3):401-4. No abstract available. 2008
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| 10 | CES, DUP22Q11
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| Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
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| Belien V, Gerard-Blanluet M, Serero S, Le Du N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A.
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| Am J Med Genet A 146A(14):1871-4. 2008
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| 11 | DEL22Q11, DGCR8, DUP22Q11
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| Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.
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| Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA.
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| Nat Genet 40(6):751-60. Epub 2008 May 11. 2008
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| 12 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
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| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
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| Ramocki MB, Zoghbi HY.
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| Nature 455(7215):912-8.
2008
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| 13 | DUP22Q11
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| Laitenberger G, Donner B, Gebauer J, Hoehn T.
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| D-Transposition of the Great Arteries in a Case of Microduplication 22q11.
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| Pediatr Cardiol 29(6):1104-1106. Epub 2007 Nov 28.
2008
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| 14 | DUP22Q11
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| Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC.
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| Clinical variability of the 22q11.
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| Eur J Med Genet ur J Med Genet. 2008 Jul 29. [Epub ahead of print]
2008
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| 15 | DUP22Q11
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| Clinical variability of the 22q11.2 duplication syndrome.
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| Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC.
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| Eur J Med Genet 51(6):501-10. Epub 2008 Jul 29.
2008
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| 16 | DUP22Q11
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| 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
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| Alberti A, Romano C, Falco M, Cali F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
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| Clin Genet 71(2):177-82. 2007
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| 17 | DEL22Q11, DUP22Q11
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| Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
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| Dempsey MA, Schwartz S, Waggoner DJ.
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| Am J Med Genet A 143(10):1082-6. 2007
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| 18 | DEL22Q11,DUP22Q11,TBX1
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| Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
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| Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D.
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| Eur J Hum Genet 15(6):658-63. Epub 2007 Mar 21. 2007
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| 19 | DEL22Q11, DEL22Q11D, DUP22Q11
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| Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
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| Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.
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| Am J Med Genet A 143(24):2924-30. 2007
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| 20 | DEL22Q11, DUP22Q11
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| Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
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| Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M.
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| Am J Med Genet A 140(22):2426-32. 2006
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| 21 | DUP22Q11
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| Microduplication and triplication of 22q11.2: a highly variable syndrome.
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| Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, Mackenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE.
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| Am J Hum Genet 76(5):865-76. Epub 2005 Mar 30. 2005
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| 22 | DUP22Q11
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| 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
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| Portnoi MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.
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| Am J Med Genet A 137(1):47-51. Review. 2005
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| 23 | DUP22Q11
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| Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
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| Cotter PD, Nguyen H, Tung G, Rauen KA.
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| Eur J Hum Genet 13(12):1245-1246. No abstract available. 2005
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| 24 | JPS, JPS2, JPS3, JPS4, ENG, DEL22Q11, DUP22Q11
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| Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
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| Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C.
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| JAMA 294(19):2465-73. 2005
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| 25 | DUP22Q11
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| A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
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| Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ.
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| Clin Genet 65(5):400-4. 2004
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| 26 | DUP22Q11
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| Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
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| 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.
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| Am J Hum Genet 73(6):1027-40. Epub 2003 Oct 02. 2003
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| 27 | CES, DUP22Q11
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| Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
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| Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Muhlendyck H, Bartels I, Zoll B.
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| J Med Genet 40(5):e62. Review. No abstract available. 2003
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| 28 | DEL22Q11, DUP22Q11, DER22S, CES
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| Genomic disorders on 22q11.
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| McDermid HE, Morrow BE.
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| Am J Hum Genet 70(5):1077-88. Epub 2002 Mar 29. Review. 2002
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