136 related articles for article (PubMed ID: 33588901)
21. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
Sun JQ; Wang LS; Qi CH; Ying WJ; Guo XH; Liu DR; Hui XY; Liu F; Cao Y; Luo FH; Wang XC
Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):944-7. PubMed ID: 23324155
[TBL] [Abstract][Full Text] [Related]
22. SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.
Frigerio M; Passeri E; de Filippis T; Rusconi D; Valaperta R; Carminati M; Donnangelo A; Costa E; Persani L; Finelli P; Corbetta S
BMC Med Genet; 2011 May; 12():61. PubMed ID: 21545739
[TBL] [Abstract][Full Text] [Related]
23. DiGeorge syndrome: new insights.
Goldmuntz E
Clin Perinatol; 2005 Dec; 32(4):963-78, ix-x. PubMed ID: 16325672
[TBL] [Abstract][Full Text] [Related]
24. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Jyonouchi S; McDonald-McGinn DM; Bale S; Zackai EH; Sullivan KE
Pediatrics; 2009 May; 123(5):e871-7. PubMed ID: 19403480
[TBL] [Abstract][Full Text] [Related]
25. A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.
Johnson MD; Gentry LR; Rice GM; Mount DL
Cleft Palate Craniofac J; 2010 May; 47(3):314-7. PubMed ID: 19860531
[TBL] [Abstract][Full Text] [Related]
26. Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome).
Ysunza A; Pamplona MC; Ramírez E; Canún S; Sierra MC; Silva-Rojas A
Int J Pediatr Otorhinolaryngol; 2003 Aug; 67(8):911-5. PubMed ID: 12880672
[TBL] [Abstract][Full Text] [Related]
27. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
28. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.
McDonald-McGinn DM; Driscoll DA; Emanuel BS; Goldmuntz E; Clark BJ; Solot C; Cohen M; Schultz P; LaRossa D; Randall P; Zackai EH
Pediatrics; 1997 May; 99(5):E9. PubMed ID: 9113966
[TBL] [Abstract][Full Text] [Related]
29. [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]
30. [Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].
Trost D; Engels H; Bauriedel G; Wiebe W; Schwanitz G
Dtsch Med Wochenschr; 1999 Jan; 124(1-2):3-7. PubMed ID: 9951451
[TBL] [Abstract][Full Text] [Related]
31. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
Saitta SC; Harris SE; McDonald-McGinn DM; Emanuel BS; Tonnesen MK; Zackai EH; Seitz SC; Driscoll DA
Am J Med Genet A; 2004 Jan; 124A(3):313-7. PubMed ID: 14708107
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM; Reilly A; Wallgren-Pettersson C; Hoyme HE; Yang SP; Adam MP; Zackai EH; Sullivan KE
Am J Med Genet A; 2006 Apr; 140(8):906-9. PubMed ID: 16532473
[No Abstract] [Full Text] [Related]
34. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
Oh AK; Workman LA; Wong GB
Cleft Palate Craniofac J; 2007 Jan; 44(1):62-6. PubMed ID: 17214538
[TBL] [Abstract][Full Text] [Related]
35. Deletion 22q11: spectrum of associated disorders.
Hay BN
Semin Pediatr Neurol; 2007 Sep; 14(3):136-9. PubMed ID: 17980310
[TBL] [Abstract][Full Text] [Related]
36. [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].
Kaltenboeck A; Friedrich F; Hinterbuchinger B; Litvan Z; Mossaheb N
Neuropsychiatr; 2016 Dec; 30(4):223-226. PubMed ID: 27822729
[TBL] [Abstract][Full Text] [Related]
37. [22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot].
Morava E; Masszi G; Czakó M; Tóth G; Melegh B; Kosztolányi G
Orv Hetil; 2000 Aug; 141(34):1873-5. PubMed ID: 11006712
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report.
Fu CH; Leung C; Kao CH; Yeh SJ
J Formos Med Assoc; 2015 Aug; 114(8):769-73. PubMed ID: 26254176
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
