437 related articles for article (PubMed ID: 10440825)
21. 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]
22. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
Guris DL; Fantes J; Tara D; Druker BJ; Imamoto A
Nat Genet; 2001 Mar; 27(3):293-8. PubMed ID: 11242111
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
Wulfsberg EA
Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634
[No Abstract] [Full Text] [Related]
25. Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.
Uddin RK; Zhang Y; Siu VM; Fan YS; O'Reilly RL; Rao J; Singh SM
BMC Med Genet; 2006 Mar; 7():18. PubMed ID: 16512914
[TBL] [Abstract][Full Text] [Related]
26. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
Kelly D; Goldberg R; Wilson D; Lindsay E; Carey A; Goodship J; Burn J; Cross I; Shprintzen RJ; Scambler PJ
Am J Med Genet; 1993 Feb; 45(3):308-12. PubMed ID: 8434616
[TBL] [Abstract][Full Text] [Related]
27. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.
Funke B; Saint-Jore B; Puech A; Sirotkin H; Edelmann L; Carlson C; Raft S; Pandita RK; Kucherlapati R; Skoultchi A; Morrow BE
Genomics; 1997 Dec; 46(3):364-72. PubMed ID: 9441739
[TBL] [Abstract][Full Text] [Related]
28. The 22q11.2 deletion syndrome.
Emanuel BS; McDonald-McGinn D; Saitta SC; Zackai EH
Adv Pediatr; 2001; 48():39-73. PubMed ID: 11480765
[TBL] [Abstract][Full Text] [Related]
29. Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.
Shashi V; Keshavan MS; Howard TD; Berry MN; Basehore MJ; Lewandowski E; Kwapil TR
Clin Genet; 2006 Mar; 69(3):234-8. PubMed ID: 16542388
[TBL] [Abstract][Full Text] [Related]
30. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
Li M; Zackai EH; Niikawa N; Kaplan P; Driscoll DA
Am J Med Genet; 1996 Oct; 65(2):101-3. PubMed ID: 8911598
[TBL] [Abstract][Full Text] [Related]
31. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.
Shuib S; Abdul Latif Z; Abidin NZ; Akmal SN; Zakaria Z
Malays J Pathol; 2009 Dec; 31(2):133-6. PubMed ID: 20514857
[TBL] [Abstract][Full Text] [Related]
32. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
Fernández L; Lapunzina P; Arjona D; López Pajares I; García-Guereta L; Elorza D; Burgueros M; De Torres ML; Mori MA; Palomares M; García-Alix A; Delicado A
Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
[TBL] [Abstract][Full Text] [Related]
33. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.
Driscoll DA
Methods Mol Med; 2006; 126():43-55. PubMed ID: 16930005
[TBL] [Abstract][Full Text] [Related]
34. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.
Lindsay EA; Halford S; Wadey R; Scambler PJ; Baldini A
Genomics; 1993 Aug; 17(2):403-7. PubMed ID: 8406492
[TBL] [Abstract][Full Text] [Related]
35. Autistic disorder and 22q11.2 duplication.
Mukaddes NM; Herguner S
World J Biol Psychiatry; 2007; 8(2):127-30. PubMed ID: 17455106
[TBL] [Abstract][Full Text] [Related]
36. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
Rauch A; Hofbeck M; Leipold G; Klinge J; Trautmann U; Kirsch M; Singer H; Pfeiffer RA
Am J Med Genet; 1998 Jul; 78(4):322-31. PubMed ID: 9714433
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
Stoller JZ; Epstein JA
Hum Mol Genet; 2005 Apr; 14(7):885-92. PubMed ID: 15703190
[TBL] [Abstract][Full Text] [Related]
39. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.
Leana-Cox J; Pangkanon S; Eanet KR; Curtin MS; Wulfsberg EA
Am J Med Genet; 1996 Nov; 65(4):309-16. PubMed ID: 8923941
[TBL] [Abstract][Full Text] [Related]
40. Deletion of chromosome 22q11 and pseudohypoparathyroidism.
Craigen WJ; Lindsay EA; Bricker JT; Hawkins EP; Baldini A
Am J Med Genet; 1997 Oct; 72(1):63-5. PubMed ID: 9295077
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
