BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 10713889)

  • 1. Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.
    Giglio S; Pirola B; Arrigo G; Dagrada P; Bardoni B; Bernardi F; Russo G; Argentiero L; Forabosco A; Carrozzo R; Zuffardi O
    Eur J Hum Genet; 2000 Jan; 8(1):63-70. PubMed ID: 10713889
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
    Small K; Iber J; Warren ST
    Nat Genet; 1997 May; 16(1):96-9. PubMed ID: 9140403
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.
    Torres-Juan L; Rosell J; Sánchez-de-la-Torre M; Fibla J; Heine-Suñer D
    BMC Med Genet; 2007 Apr; 8():14. PubMed ID: 17397557
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
    Lee JA; Inoue K; Cheung SW; Shaw CA; Stankiewicz P; Lupski JR
    Hum Mol Genet; 2006 Jul; 15(14):2250-65. PubMed ID: 16774974
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
    Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
    Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
    Roberts SE; Dennis NR; Browne CE; Willatt L; Woods G; Cross I; Jacobs PA; Thomas S
    Hum Genet; 2002 Mar; 110(3):227-34. PubMed ID: 11935334
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.
    Van Dyke DL; Miller MJ; Weiss L
    Am J Med Genet; 1983 Jul; 15(3):441-50. PubMed ID: 6881211
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
    McDonell N; Ramser J; Francis F; Vinet MC; Rider S; Sudbrak R; Riesselman L; Yaspo ML; Reinhardt R; Monaco AP; Ross F; Kahn A; Kearney L; Buckle V; Chelly J
    Genomics; 2000 Mar; 64(3):221-9. PubMed ID: 10756090
    [TBL] [Abstract][Full Text] [Related]  

  • 10. FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities.
    Ogata T; Matsuo N; Fukushima Y; Saito M; Nose O; Miharu N; Uehara S; Ishizuka B
    Am J Med Genet; 2001 Dec; 104(4):307-11. PubMed ID: 11754066
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.
    Antonini S; Kim CA; Sugayama SM; Vianna-Morgante AM
    Am J Med Genet; 2002 Nov; 113(2):144-50. PubMed ID: 12407704
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
    Ballif BC; Yu W; Shaw CA; Kashork CD; Shaffer LG
    Hum Mol Genet; 2003 Sep; 12(17):2153-65. PubMed ID: 12915474
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin.
    Thomas NS; Collins AR; Hassold TJ; Jacobs PA
    Eur J Hum Genet; 2000 Oct; 8(10):805-8. PubMed ID: 11039584
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.
    Chuzhanova N; Abeysinghe SS; Krawczak M; Cooper DN
    Hum Mutat; 2003 Sep; 22(3):245-51. PubMed ID: 12938089
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
    J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).
    Valero MC; de Luis O; Cruces J; Pérez Jurado LA
    Genomics; 2000 Oct; 69(1):1-13. PubMed ID: 11013070
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
    Abeysinghe SS; Chuzhanova N; Krawczak M; Ball EV; Cooper DN
    Hum Mutat; 2003 Sep; 22(3):229-44. PubMed ID: 12938088
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
    Mignon-Ravix C; Depetris D; Luciani JJ; Cuoco C; Krajewska-Walasek M; Missirian C; Collignon P; Delobel B; Croquette MF; Moncla A; Kroisel PM; Mattei MG
    Eur J Hum Genet; 2007 Apr; 15(4):432-40. PubMed ID: 17264869
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
    Sloan-Béna F; Philippe C; LeHeup B; Wuilque F; Levy ER; Chéry M; Jonveaux P; Monaco AP
    J Med Genet; 1998 Feb; 35(2):146-50. PubMed ID: 9507395
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.