235 related articles for article (PubMed ID: 26254176)
1. 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]
2. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.
Cuneo BF
Curr Opin Pediatr; 2001 Oct; 13(5):465-72. PubMed ID: 11801894
[TBL] [Abstract][Full Text] [Related]
3. A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism.
Batra N; Kant R; Mandal K; Joshi K
Neurol India; 2021; 69(1):161-163. PubMed ID: 33642291
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. [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]
6. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
Hou JW; Wang JK; Tsai WY; Chou CC; Wang TR
J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164
[TBL] [Abstract][Full Text] [Related]
7. DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
Wang JL; Chen SJ; Chung MY; Niu DM; Lin CY; Hwang BT; Lu JH
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997; 38(5):385-9. PubMed ID: 9401184
[TBL] [Abstract][Full Text] [Related]
8. DiGeorge syndrome: new insights.
Goldmuntz E
Clin Perinatol; 2005 Dec; 32(4):963-78, ix-x. PubMed ID: 16325672
[TBL] [Abstract][Full Text] [Related]
9. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
10. [DiGeorge syndrome. Velocardiofacial syndrome/chromosome 22q11 deletion syndrome].
Hoffmann MH; Vadstrup S
Ugeskr Laeger; 2000 May; 162(19):2736-9. PubMed ID: 10827540
[TBL] [Abstract][Full Text] [Related]
11. [DiGeorge syndrome. An underdiagnosed disease category with different clinical features].
Graesdal A; Surén P; Vadstrup S
Tidsskr Nor Laegeforen; 2001 Nov; 121(27):3177-9. PubMed ID: 11876140
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
[TBL] [Abstract][Full Text] [Related]
13. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM; LaRossa D; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Wang P; Solot C; Schultz P; Lynch D; Bingham P; Keenan G; Weinzimer S; Ming JE; Driscoll D; Clark BJ; Markowitz R; Cohen A; Moshang T; Pasquariello P; Randall P; Emanuel BS; Zackai EH
Genet Test; 1997; 1(2):99-108. PubMed ID: 10464633
[TBL] [Abstract][Full Text] [Related]
14. The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming JE; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel BS; Zackai EH
Genet Couns; 1999; 10(1):11-24. PubMed ID: 10191425
[TBL] [Abstract][Full Text] [Related]
15. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
Matsuoka R; Takao A; Kimura M; Imamura S; Kondo C; Joh-o K; Ikeda K; Nishibatake M; Ando M; Momma K
Am J Med Genet; 1994 Nov; 53(3):285-9. PubMed ID: 7856665
[TBL] [Abstract][Full Text] [Related]
16. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
McDonald-McGinn DM; Tonnesen MK; Laufer-Cahana A; Finucane B; Driscoll DA; Emanuel BS; Zackai EH
Genet Med; 2001; 3(1):23-9. PubMed ID: 11339373
[TBL] [Abstract][Full Text] [Related]
17. [An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of Auditory Hallucinations].
Tamune H; Nishimura F; Koshiyama D; Yamada K; Kondo S; Kano Y; Kasai K
Seishin Shinkeigaku Zasshi; 2017; 119(1):9-16. PubMed ID: 30629863
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. DiGeorge syndrome: clinical variability in a family with submicroscopic deletion at 22q11.2.
Tsui KM; Ng YY; Lam TS
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997; 38(1):52-6. PubMed ID: 9066191
[TBL] [Abstract][Full Text] [Related]
20. A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.
Liu XJ; Yan C; Jia JY
Medicine (Baltimore); 2019 Jun; 98(25):e16109. PubMed ID: 31232956
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
