204 related articles for article (PubMed ID: 17704945)
1. Ocular findings in children with a microdeletion in chromosome 22q11.2.
Casteels I; Casaer P; Gewillig M; Swillen A; Devriendt K
Eur J Pediatr; 2008 Jul; 167(7):751-5. PubMed ID: 17704945
[TBL] [Abstract][Full Text] [Related]
2. Ocular Findings in Children With 22q11.2 Deletion Syndrome.
Gokturk B; Topcu-Yilmaz P; Bozkurt B; Yildirim MS; Guner SN; Sayar EH; Reisli I
J Pediatr Ophthalmol Strabismus; 2016 Jul; 53(4):218-22. PubMed ID: 27182748
[TBL] [Abstract][Full Text] [Related]
3. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
Brunet A; Gabau E; Perich RM; Valdesoiro L; Brun C; Caballín MR; Guitart M
Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. Ocular findings in the chromosome 22q11.2 deletion syndrome.
Forbes BJ; Binenbaum G; Edmond JC; DeLarato N; McDonald-McGinn DM; Zackai EH
J AAPOS; 2007 Apr; 11(2):179-82. PubMed ID: 17140829
[TBL] [Abstract][Full Text] [Related]
7. Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases.
Larson RS; Butler MG
Diagn Mol Pathol; 1995 Dec; 4(4):274-8. PubMed ID: 8634784
[TBL] [Abstract][Full Text] [Related]
8. Microdeletion 22q11 and oesophageal atresia.
Digilio MC; Marino B; Bagolan P; Giannotti A; Dallapiccola B
J Med Genet; 1999 Feb; 36(2):137-9. PubMed ID: 10051013
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.
Alikaşifoğlu M; Malkoç N; Ceviz N; Ozme S; Uludoğan S; Tunçbilek E
Turk J Pediatr; 2000; 42(3):215-8. PubMed ID: 11105620
[TBL] [Abstract][Full Text] [Related]
11. Ocular findings associated with chromosome 22q11.2 duplication.
Forbes BJ; McDonald-McGinn DM; Wootton G; Dawson L; Zackai E; Binenbaum G
J AAPOS; 2016 Jun; 20(3):278-80. PubMed ID: 27108843
[TBL] [Abstract][Full Text] [Related]
12. [Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].
Levy-Mozziconacci A; Lacombe D; Leheup B; Wernert F; Rouault F; Philip N
Arch Pediatr; 1996 Aug; 3(8):761-8. PubMed ID: 8998528
[TBL] [Abstract][Full Text] [Related]
13. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
Rakonjac M; Cuturilo G; Stevanovic M; Jelicic L; Subotic M; Jovanovic I; Drakulic D
Res Dev Disabil; 2016 Aug; 55():322-9. PubMed ID: 27235769
[TBL] [Abstract][Full Text] [Related]
14. A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.
Tarlan B; Kiratli H; Kılıç E; Utine E; Boduroğlu K
Ophthalmic Genet; 2014 Dec; 35(4):248-51. PubMed ID: 23834556
[TBL] [Abstract][Full Text] [Related]
15. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome].
Qin YF; Yang JB; Xie CH; Shao J; Zhao ZY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):284-7. PubMed ID: 17557238
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
Yakut T; Kilic SS; Cil E; Yapici E; Egeli U
Pediatr Surg Int; 2006 Apr; 22(4):380-3. PubMed ID: 16463032
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. 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]
[Next] [New Search]