BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 8574419)

  • 1. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.
    De Silva D; Duffty P; Booth P; Auchterlonie I; Morrison N; Dean JC
    Clin Dysmorphol; 1995 Oct; 4(4):294-303. PubMed ID: 8574419
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
    Pusceddu M; Bertone A; Campra D; Pontoriero D; Guala A
    Minerva Pediatr; 2002 Aug; 54(4):343-5. PubMed ID: 12131871
    [No Abstract]   [Full Text] [Related]  

  • 3. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.
    Borgmann S; Luhmer I; Arslan-Kirchner M; Kallfelz HC; Schmidtke J
    Eur J Pediatr; 1999 Dec; 158(12):958-63. PubMed ID: 10592069
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).
    Perez E; Sullivan KE
    Curr Opin Pediatr; 2002 Dec; 14(6):678-83. PubMed ID: 12436034
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
    Unolt M; Kammoun M; Nowakowska B; Graham GE; Crowley TB; Hestand MS; Demaerel W; Geremek M; Emanuel BS; Zackai EH; Vermeesch JR; McDonald-McGinn D
    Genet Med; 2020 Feb; 22(2):326-335. PubMed ID: 31474763
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The deletions of 22q11--the Portuguese experience.
    Gaspar IM; Lourenço MT; Reis MI; Soares MA; Nogueira G; Ferreira F; Feijóo MJ
    Genet Couns; 1999; 10(1):51-7. PubMed ID: 10191429
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
    Henwood J; Pickard C; Leek JP; Bennett CP; Crow YJ; Thompson JD; Ahmed M; Watterson KG; Parsons JM; Roberts E; Lench NJ
    J Med Genet; 2001 Aug; 38(8):533-6. PubMed ID: 11494964
    [No Abstract]   [Full Text] [Related]  

  • 11. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion.
    Greig F; Paul E; DiMartino-Nardi J; Saenger P
    J Pediatr; 1996 Apr; 128(4):563-7. PubMed ID: 8618195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
    Wulfsberg EA
    Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634
    [No Abstract]   [Full Text] [Related]  

  • 13. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.
    Adachi M; Tachibana K; Masuno M; Makita Y; Maesaka H; Okada T; Hizukuri K; Imaizumi K; Kuroki Y; Kurahashi H; Suwa S
    Eur J Pediatr; 1998 Jan; 157(1):34-8. PubMed ID: 9461360
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Genetic basis of DiGeorge and velocardiofacial syndromes.
    Driscoll DA
    Curr Opin Pediatr; 1994 Dec; 6(6):702-6. PubMed ID: 7849818
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
    Webber SA; Hatchwell E; Barber JC; Daubeney PE; Crolla JA; Salmon AP; Keeton BR; Temple IK; Dennis NR
    J Pediatr; 1996 Jul; 129(1):26-32. PubMed ID: 8757559
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.
    Sullivan KE; Jawad AF; Randall P; Driscoll DA; Emanuel BS; McDonald-McGinn DM; Zackai EH
    Clin Immunol Immunopathol; 1998 Feb; 86(2):141-6. PubMed ID: 9473376
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.
    Rojnueangnit K; Robin NH
    Am J Med Genet A; 2013 Aug; 161A(8):2024-6. PubMed ID: 23813949
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The annual incidence of DiGeorge/velocardiofacial syndrome.
    Devriendt K; Fryns JP; Mortier G; van Thienen MN; Keymolen K
    J Med Genet; 1998 Sep; 35(9):789-90. PubMed ID: 9733045
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.