174 related articles for article (PubMed ID: 21337693)
1. Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.
Alkalay AA; Guo T; Montagna C; Digilio MC; Dallapiccola B; Marino B; Morrow B
Am J Med Genet A; 2011 Mar; 155A(3):548-54. PubMed ID: 21337693
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
Funke B; Edelmann L; McCain N; Pandita RK; Ferreira J; Merscher S; Zohouri M; Cannizzaro L; Shanske A; Morrow BE
Am J Hum Genet; 1999 Mar; 64(3):747-58. PubMed ID: 10053009
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
Nickel RE; Pillers DA; Merkens M; Magenis RE; Driscoll DA; Emanuel BS; Zonana J
Am J Med Genet; 1994 Oct; 52(4):445-9. PubMed ID: 7747757
[TBL] [Abstract][Full Text] [Related]
6. Velo-cardio-facial syndrome: 30 Years of study.
Shprintzen RJ
Dev Disabil Res Rev; 2008; 14(1):3-10. PubMed ID: 18636631
[TBL] [Abstract][Full Text] [Related]
7. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
Edelmann L; Pandita RK; Morrow BE
Am J Hum Genet; 1999 Apr; 64(4):1076-86. PubMed ID: 10090893
[TBL] [Abstract][Full Text] [Related]
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; 143A(10):1082-6. PubMed ID: 17431914
[TBL] [Abstract][Full Text] [Related]
9. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Guo T; Diacou A; Nomaru H; McDonald-McGinn DM; Hestand M; Demaerel W; Zhang L; Zhao Y; Ujueta F; Shan J; Montagna C; Zheng D; Crowley TB; Kushan-Wells L; Bearden CE; Kates WR; Gothelf D; Schneider M; Eliez S; Breckpot J; Swillen A; Vorstman J; Zackai E; Benavides Gonzalez F; Repetto GM; Emanuel BS; Bassett AS; Vermeesch JR; Marshall CR; Morrow BE;
Hum Mol Genet; 2018 Apr; 27(7):1150-1163. PubMed ID: 29361080
[TBL] [Abstract][Full Text] [Related]
10. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome).
Digilio MC; Giannotti A; Castro M; Colistro F; Ferretti F; Marino B; Dallapiccola B
Am J Med Genet A; 2003 Sep; 121A(3):286-8. PubMed ID: 12923874
[No Abstract] [Full Text] [Related]
11. 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]
12. Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
Tuţulan-Cuniţă AC; Budişteanu M; Papuc SM; Dupont JM; Blancho D; Lebbar A; Viot G; Lungeanu A; Arghir A
Psychiatry Res; 2012 May; 197(3):356-7. PubMed ID: 22365273
[TBL] [Abstract][Full Text] [Related]
13. [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
Pânzaru M; Rusu C; Voloşciuc M; Braha E; Butnariu L; Ivanov I; Grămescu M; Popescu R; Caba L; Sireteanu A; Macovei M; Covic M; Gorduza EV
Rev Med Chir Soc Med Nat Iasi; 2011; 115(3):756-61. PubMed ID: 22046783
[TBL] [Abstract][Full Text] [Related]
14. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.
Bittel DC; Yu S; Newkirk H; Kibiryeva N; Holt A; Butler MG; Cooley LD
Cytogenet Genome Res; 2009; 124(2):113-20. PubMed ID: 19420922
[TBL] [Abstract][Full Text] [Related]
15. Tricuspid atresia and 22q11 deletion.
Marino B; Digilio MC; Novelli G; Giannotti A; Dallapiccola B
Am J Med Genet; 1997 Oct; 72(1):40-2. PubMed ID: 9295072
[TBL] [Abstract][Full Text] [Related]
16. Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.
Takahashi S; Suzuki T; Nakamura-Tomizuka S; Osaki K; Sotome Y; Sagawa T; Uchiyama M
Am J Med Genet B Neuropsychiatr Genet; 2015 Jun; 168B(4):229-35. PubMed ID: 25776014
[TBL] [Abstract][Full Text] [Related]
17. Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.
Demaerel W; Hosseinzadeh M; Nouri N; Sedghi M; Dimitriadou E; Salehi M; Abdali H; Memarzadeh M; Zamani M; Vermeesch JR
Cytogenet Genome Res; 2016; 148(1):1-5. PubMed ID: 27055209
[TBL] [Abstract][Full Text] [Related]
18. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
Amati F; Conti E; Novelli A; Bengala M; Diglio MC; Marino B; Giannotti A; Gabrielli O; Novelli G; Dallapiccola B
Eur J Hum Genet; 1999 Dec; 7(8):903-9. PubMed ID: 10602366
[TBL] [Abstract][Full Text] [Related]
19. Deletion of 22q11 in two brothers with different phenotype.
Kasprzak L; Der Kaloustian VM; Elliott AM; Shevell M; Lejtenyi C; Eydoux P
Am J Med Genet; 1998 Jan; 75(3):288-91. PubMed ID: 9475599
[TBL] [Abstract][Full Text] [Related]
20. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
Zhu H; Wang A; Zhang H; Ji C; Zhan X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):623-7. PubMed ID: 25297596
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
