329 related articles for article (PubMed ID: 23042811)
1. 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. PubMed ID: 23042811
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 22796526
[TBL] [Abstract][Full Text] [Related]
3. 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; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18445048
[TBL] [Abstract][Full Text] [Related]
5. 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; 569(1):46-50. PubMed ID: 26099517
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 17250668
[TBL] [Abstract][Full Text] [Related]
7. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG
Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
[TBL] [Abstract][Full Text] [Related]
8. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
[TBL] [Abstract][Full Text] [Related]
9. Microduplication 22q11.2: a new chromosomal syndrome.
Portnoï MF
Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
[TBL] [Abstract][Full Text] [Related]
10. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
Karmous-Benailly H; Giuliano F; Massol C; Bloch C; De Ricaud D; Lambert JC; Perelman S
Eur J Med Genet; 2006; 49(5):431-8. PubMed ID: 16497571
[TBL] [Abstract][Full Text] [Related]
11. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
Muñoz S; Garay F; Flores I; Heusser F; Talesnik E; Aracena M; Mellado C; Méndez C; Arnaiz P; Repetto G
Rev Med Chil; 2001 May; 129(5):515-21. PubMed ID: 11464533
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.
Christopoulou G; Sismani C; Sakellariou M; Saklamaki M; Athanassiou V; Velissariou V
Gene; 2013 Sep; 527(2):694-7. PubMed ID: 23506827
[TBL] [Abstract][Full Text] [Related]
13. 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; 17(24):4045-53. PubMed ID: 18806272
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 16617304
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
16. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.
Shimojima K; Okamoto N; Inazu T; Yamamoto T
J Hum Genet; 2011 Nov; 56(11):810-2. PubMed ID: 21866110
[TBL] [Abstract][Full Text] [Related]
17. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Barber JC; Maloney VK; Huang S; Bunyan DJ; Cresswell L; Kinning E; Benson A; Cheetham T; Wyllie J; Lynch SA; Zwolinski S; Prescott L; Crow Y; Morgan R; Hobson E
Eur J Hum Genet; 2008 Jan; 16(1):18-27. PubMed ID: 17940555
[TBL] [Abstract][Full Text] [Related]
18. Genetic compensation in a human genomic disorder.
Carelle-Calmels N; Saugier-Veber P; Girard-Lemaire F; Rudolf G; Doray B; Guérin E; Kuhn P; Arrivé M; Gilch C; Schmitt E; Fehrenbach S; Schnebelen A; Frébourg T; Flori E
N Engl J Med; 2009 Mar; 360(12):1211-6. PubMed ID: 19297573
[TBL] [Abstract][Full Text] [Related]
19. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W; Hestand MS; Vergaelen E; Swillen A; López-Sánchez M; Pérez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE; Breckpot J; Devriendt K; Vermeesch JR;
Am J Hum Genet; 2017 Oct; 101(4):616-622. PubMed ID: 28965848
[TBL] [Abstract][Full Text] [Related]
20. Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
Bergman A; Blennow E
Eur J Hum Genet; 2000 Oct; 8(10):801-4. PubMed ID: 11039583
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
