322 related articles for article (PubMed ID: 16222476)
1. Differential detection of deletion 22q11.2 syndrome by specialty and indication.
Katzman PJ; Wang B; Sawhney M; Wang N
Pediatr Dev Pathol; 2005; 8(5):557-67. PubMed ID: 16222476
[TBL] [Abstract][Full Text] [Related]
2. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
Ravnan JB; Chen E; Golabi M; Lebo RV
Am J Med Genet; 1996 Dec; 66(3):250-6. PubMed ID: 8985481
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [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]
5. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
Lindsay EA; Greenberg F; Shaffer LG; Shapira SK; Scambler PJ; Baldini A
Am J Med Genet; 1995 Mar; 56(2):191-7. PubMed ID: 7625444
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genetic background of congenital conotruncal heart defects--a study of 45 families.
Kwiatkowska J; Wierzba J; Aleszewicz-Baranowska J; Ereciński J
Kardiol Pol; 2007 Jan; 65(1):32-7; discussion 38-9. PubMed ID: 17295158
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
Kitsiou-Tzeli S; Kolialexi A; Fryssira H; Galla-Voumvouraki A; Salavoura K; Kanariou M; Tsangaris GT; Kanavakis E; Mavrou A
In Vivo; 2004; 18(5):603-8. PubMed ID: 15523900
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Use of FISH technique in the diagnosis of chromosomal syndromes.
Iqbal MA; Ulmer C; Sakati N
East Mediterr Health J; 1999 Nov; 5(6):1218-24. PubMed ID: 11924115
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. Chromosome 22q11 deletions in patients with selected outflow tract malformations.
Frohn-Mulder IM; Wesby Swaay E; Bouwhuis C; Van Hemel JO; Gerritsma E; Niermeyer MF; Hess J
Genet Couns; 1999; 10(1):35-41. PubMed ID: 10191427
[TBL] [Abstract][Full Text] [Related]
15. Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
Bahamat AA; Assidi M; Lary SA; Almughamsi MM; Peer Zada AA; Chaudhary A; Abuzenadah A; Abu-Elmagd M; Al-Qahtani M
Cytogenet Genome Res; 2018; 154(1):20-29. PubMed ID: 29455205
[TBL] [Abstract][Full Text] [Related]
16. Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).
Soares G; Alvares S; Rocha C; Teixeira MF; Mota MC; Reis MI; Feijó MJ; Lima MR; Pinto MR
Rev Port Cardiol; 2005 Mar; 24(3):349-71. PubMed ID: 15929620
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Van Esch H; Groenen P; Fryns JP; Van de Ven W; Devriendt K
Genet Couns; 1999; 10(1):59-65. PubMed ID: 10191430
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]