BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 33588901)

  • 1. Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.
    Rosina E; Rinaldi B; Silipigni R; Bergamaschi L; Gattuso G; Signoroni S; Guerneri S; Carnevali A; Marchisio PG; Milani D
    Ital J Pediatr; 2021 Feb; 47(1):31. PubMed ID: 33588901
    [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. 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]  

  • 4. [Cerebral polymicrogyria and 22q11 deletion syndrome].
    Arriola-Pereda G; Verdú-Pérez A; de Castro-De Castro P
    Rev Neurol; 2009 Feb 16-28; 48(4):188-90. PubMed ID: 19226486
    [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. Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
    Vieira TP; Monteiro FP; Sgardioli IC; Souza J; Fett-Conte AC; Monlleó IL; Fontes MB; Félix TM; Leal GF; Ribeiro EM; Gil-da-Silva-Lopes VL
    Cleft Palate Craniofac J; 2015 Jul; 52(4):411-6. PubMed ID: 24805874
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
    Wang JL; Chen SJ; Chung MY; Niu DM; Lin CY; Hwang BT; Lu JH
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997; 38(5):385-9. PubMed ID: 9401184
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. [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]  

  • 10. 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]  

  • 11. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF; Lebas F; Gruchy N; Ardalan A; Biran-Mucignat V; Malan V; Finkel L; Roger G; Ducrocq S; Gold F; Taillemite JL; Marlin S
    Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.
    Shi H; Wang Z
    Medicine (Baltimore); 2018 Feb; 97(8):e9936. PubMed ID: 29465581
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
    Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
    Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
    Molck MC; Monteiro FP; Simioni M; Gil-da-Silva-Lopes VL
    J Dev Behav Pediatr; 2015 Sep; 36(7):544-8. PubMed ID: 26263419
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Tricuspid atresia and 22q11 deletion.
    Marino B; Digilio MC; Novelli G; Giannotti A; Dallapiccola B
    Am J Med Genet; 1997 Oct; 72(1):40-2. PubMed ID: 9295072
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Microdeletion 22q11: apropos of case of schizophrenia in an adolescent].
    Pinquier C; Héron D; de Carvalho W; Lazar G; Mazet P; Cohen D
    Encephale; 2001; 27(1):45-50. PubMed ID: 11294038
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
    Tuţulan-Cuniţă AC; Budişteanu M; Papuc SM; Dupont JM; Blancho D; Lebbar A; Viot G; Lungeanu A; Arghir A
    Psychiatry Res; 2012 May; 197(3):356-7. PubMed ID: 22365273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.