BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 16424562)

  • 1. Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.
    Halder A; Fauzdar A; Kabra M; Saxena A
    Indian Pediatr; 2005 Dec; 42(12):1236-9. PubMed ID: 16424562
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Craniofacial cephalometric morphology in children with CATCH 22 syndrome.
    Heliövaara A; Hurmerinta K
    Orthod Craniofac Res; 2006 Nov; 9(4):186-92. PubMed ID: 17101025
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
    Hassed SJ; Hopcus-Niccum D; Zhang L; Li S; Mulvihill JJ
    Clin Genet; 2004 May; 65(5):400-4. PubMed ID: 15099348
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M; Borghgraef M; Fryns JP
    Am J Med Genet; 2001 Dec; 104(3):199-203. PubMed ID: 11754044
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes.
    Crifasi PA; Michels VV; Driscoll DJ; Jalal SM; Dewald GW
    Mayo Clin Proc; 1995 Dec; 70(12):1148-53. PubMed ID: 7490915
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.
    Smith A; St Heaps L; Robson L
    Am J Med Genet; 2002 Dec; 113(4):346-50. PubMed ID: 12457406
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
    Lorentz CP; Jalal SM; Thompson DM; Babovic-Vuksanovic D
    Am J Med Genet; 2002 Jul; 111(1):61-7. PubMed ID: 12124737
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.
    Tsai CH; Van Dyke DL; Feldman GL
    Am J Med Genet; 1999 Feb; 82(4):336-9. PubMed ID: 10051168
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case with de novo interstitial deletion of chromosome 7q21.1-q22.
    Manguoğlu E; Berker-Karaüzüm S; Baumer A; Mihçi E; Taçoy S; Lüleci G; Schinzel A
    Genet Couns; 2005; 16(2):155-9. PubMed ID: 16080295
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C; Goecke TO; Majewski F; Bartsch O
    Am J Med Genet; 2002 Nov; 113(2):207-12. PubMed ID: 12407714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K; Kawame H; Okamoto N; Ochiai Y; Akatsuka A; Kobayashi M; Shimohira M; Mizuno S; Wada K; Fukushima Y; Kawawaki H; Yamamoto T; Masuno M; Imaizumi K; Kuroki Y
    Brain Dev; 2005 Aug; 27(5):378-82. PubMed ID: 16023556
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A bifid uvula in a patient with schizophrenia as a sign of 22q11 deletion syndrome].
    Vorstman JA; de Ranitz AG; Udink ten Cate FE; Beemer FA; Kahn RS
    Ned Tijdschr Geneeskd; 2002 Oct; 146(43):2033-6. PubMed ID: 12428463
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
    Wenger SL; Boone LY; Cummins JH; Del Vecchio MA; Bay CA; Hummel M; Mowery-Rushton PA
    Am J Med Genet; 2000 Apr; 91(5):351-4. PubMed ID: 10766997
    [TBL] [Abstract][Full Text] [Related]  

  • 17. FISH-mapping of a 100-kb terminal 22q13 deletion.
    Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
    Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture].
    Oskarsdóttir S; Fasth A; Belfrage M; Viggedal G; Persson C; Eriksson BO
    Lakartidningen; 1999 Nov; 96(44):4789-93. PubMed ID: 10584540
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
    Knijnenburg J; van Haeringen A; Hansson KB; Lankester A; Smit MJ; Belfroid RD; Bakker E; Rosenberg C; Tanke HJ; Szuhai K
    Eur J Hum Genet; 2007 May; 15(5):548-55. PubMed ID: 17342151
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unilateral cleft lip in a boy with Angelman syndrome.
    Rösby O; Strömme P; Sandsmark M; Ramstad K; Ormerod E; Birger van der Hagen C; Kubota T; Ledbetter DH; Orstavik KH
    J Craniofac Genet Dev Biol; 1996; 16(2):122-5. PubMed ID: 8773903
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.