BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 11039583)

  • 21. Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter.
    Knight LA; Lipson M; Mann J; Bachman R
    Am J Med Genet; 1984 Mar; 17(3):649-54. PubMed ID: 6585144
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genetic compensation in a human genomic disorder.
    Carelle-Calmels N; Saugier-Veber P; Girard-Lemaire F; Rudolf G; Doray B; Guérin E; Kuhn P; Arrivé M; Gilch C; Schmitt E; Fehrenbach S; Schnebelen A; Frébourg T; Flori E
    N Engl J Med; 2009 Mar; 360(12):1211-6. PubMed ID: 19297573
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.
    Chen CP; Ko TM; Chen YY; Su JW; Wang W
    Gene; 2013 Sep; 527(1):384-8. PubMed ID: 23747353
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.
    Tassano E; Alpigiani MG; Salvati P; Gimelli S; Lorini R; Gimelli G
    Gene; 2012 Dec; 511(2):338-40. PubMed ID: 23031810
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.
    Flejter WL; Bennett-Baker PE; Ghaziuddin M; McDonald M; Sheldon S; Gorski JL
    Am J Med Genet; 1996 Jan; 61(2):182-7. PubMed ID: 8669450
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W; Probst FJ; Wiszniewska J; Plunkett K; Roney EK; Carter BS; Williams MD; Stankiewicz P; Patel A; Stevens CA; Lupski JR; Cheung SW
    J Med Genet; 2012 Nov; 49(11):681-8. PubMed ID: 23042811
    [TBL] [Abstract][Full Text] [Related]  

  • 27. DiGeorge anomaly and chromosome 10p deletions: one or two loci?
    Dasouki M; Jurecic V; Phillips JA; Whitlock JA; Baldini A
    Am J Med Genet; 1997 Nov; 73(1):72-5. PubMed ID: 9375926
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular characterization of inv dup del(8p): analysis of five cases.
    Shimokawa O; Kurosawa K; Ida T; Harada N; Kondoh T; Miyake N; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N
    Am J Med Genet A; 2004 Jul; 128A(2):133-7. PubMed ID: 15214003
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.
    Lindsay EA; Halford S; Wadey R; Scambler PJ; Baldini A
    Genomics; 1993 Aug; 17(2):403-7. PubMed ID: 8406492
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility.
    Chantot-Bastaraud S; Ravel C; Berthaut I; McElreavey K; Bouchard P; Mandelbaum J; Siffroi JP
    Mol Hum Reprod; 2007 Jan; 13(1):55-9. PubMed ID: 17077110
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
    Babcock M; Yatsenko S; Hopkins J; Brenton M; Cao Q; de Jong P; Stankiewicz P; Lupski JR; Sikela JM; Morrow BE
    Hum Mol Genet; 2007 Nov; 16(21):2560-71. PubMed ID: 17675367
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
    Thomas NS; Durkie M; Potts G; Sandford R; Van Zyl B; Youings S; Dennis NR; Jacobs PA
    Eur J Hum Genet; 2006 Jul; 14(7):831-7. PubMed ID: 16617304
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
    Zhang L; Parkhurst JB; Kern WF; Scott KV; Niccum D; Mulvihill JJ; Li S
    Chin Med J (Engl); 2003 Sep; 116(9):1298-303. PubMed ID: 14527352
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.
    Bonaglia MC; Giorda R; Poggi G; Raggi ME; Rossi E; Baroncini A; Giglio S; Borgatti R; Zuffardi O
    Eur J Hum Genet; 2000 Aug; 8(8):597-603. PubMed ID: 10951522
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Trisomy 20p resulting from inverted duplication and neocentromere formation.
    Voullaire L; Saffery R; Davies J; Earle E; Kalitsis P; Slater H; Irvine DV; Choo KH
    Am J Med Genet; 1999 Aug; 85(4):403-8. PubMed ID: 10398268
    [TBL] [Abstract][Full Text] [Related]  

  • 38. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.
    Rowe LR; Lee JY; Rector L; Kaminsky EB; Brothman AR; Martin CL; South ST
    J Med Genet; 2009 Oct; 46(10):694-702. PubMed ID: 19293169
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
    Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
    [TBL] [Abstract][Full Text] [Related]  

  • 40. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
    Cockwell AE; Dávalos IP; Rivera HR; Crolla JA
    Am J Med Genet; 2001 Nov; 103(4):289-94. PubMed ID: 11746008
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.