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5. Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission. Iascone MR; Vittorini S; Sacchelli M; Spadoni I; Simi P; Giusti S Am J Med Genet; 2002 Apr; 108(4):319-21. PubMed ID: 11920838 [TBL] [Abstract][Full Text] [Related]
6. Fragile X syndrome and 22q11.2 microdeletion in the same sibship. Missirian C; Moncla A; Voelckel MA; Ravix V; Philip N Am J Med Genet; 2000 Dec; 95(4):358-60. PubMed ID: 11186890 [TBL] [Abstract][Full Text] [Related]
7. 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]
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]
10. 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]
11. [Phenotypic variability: genetics and chance--deletion 22q11 and schizophrenia]. Breuning MH Ned Tijdschr Geneeskd; 2002 Oct; 146(43):2016-9. PubMed ID: 12428459 [TBL] [Abstract][Full Text] [Related]
12. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Sergi C; Serpi M; Müller-Navia J; Schnabel PA; Hagl S; Otto HF; Ulmer HE Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461 [TBL] [Abstract][Full Text] [Related]
13. [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]
14. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. Beauchesne LM; Warnes CA; Connolly HM; Ammash NM; Grogan M; Jalal SM; Michels VV J Am Coll Cardiol; 2005 Feb; 45(4):595-8. PubMed ID: 15708709 [TBL] [Abstract][Full Text] [Related]
15. [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]
16. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Halder A; Jain M; Chaudhary I; Varma B Mol Cytogenet; 2012 Mar; 5(1):13. PubMed ID: 22413934 [TBL] [Abstract][Full Text] [Related]
17. Familial deletion of 22q11.2. Rodríguez Criado G; Gruesomontero J; Delicado Navarro A Genet Couns; 1999; 10(3):325-7. PubMed ID: 10546107 [TBL] [Abstract][Full Text] [Related]
18. Monozygotic twins with 22q11 deletion and discordant phenotypes. Fryer A J Med Genet; 1996 Feb; 33(2):173. PubMed ID: 8929959 [No Abstract] [Full Text] [Related]
19. 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]
20. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. Burn J; Takao A; Wilson D; Cross I; Momma K; Wadey R; Scambler P; Goodship J J Med Genet; 1993 Oct; 30(10):822-4. PubMed ID: 8230157 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]