BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

264 related articles for article (PubMed ID: 9475599)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
    Bergman A; Blennow E
    Eur J Hum Genet; 2000 Oct; 8(10):801-4. PubMed ID: 11039583
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. [DiGeorge syndrome, a review of 52 patients].
    Minier F; Carles D; Pelluard F; Alberti EM; Stern L; Saura R
    Arch Pediatr; 2005 Mar; 12(3):254-7. PubMed ID: 15734119
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Phenotypic discordance in monozygotic twins with 22q11.2 deletion.
    Yamagishi H; Ishii C; Maeda J; Kojima Y; Matsuoka R; Kimura M; Takao A; Momma K; Matsuo N
    Am J Med Genet; 1998 Jul; 78(4):319-21. PubMed ID: 9714432
    [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. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
    McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A
    Am J Med Genet; 1999 Sep; 86(1):27-33. PubMed ID: 10440825
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Prenatal diagnosis of 22q11 microdeletion.
    Levy-Mozziconacci A; Piquet C; Heurtevin PC; Philip N
    Prenat Diagn; 1997 Nov; 17(11):1033-7. PubMed ID: 9399351
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].
    Eirís-Puñal J; Iglesias-Meleiro JM; Blanco-Barca MO; Fuster-Siebert M; Barros-Angueira F; Ansede A; Castro-Gago M
    Rev Neurol; 2003 Oct 1-15; 37(7):601-7. PubMed ID: 14582013
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. The 22q11.2 deletion syndrome.
    Emanuel BS; McDonald-McGinn D; Saitta SC; Zackai EH
    Adv Pediatr; 2001; 48():39-73. PubMed ID: 11480765
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
    Fernández L; Lapunzina P; Arjona D; López Pajares I; García-Guereta L; Elorza D; Burgueros M; De Torres ML; Mori MA; Palomares M; García-Alix A; Delicado A
    Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.