BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

252 related articles for article (PubMed ID: 9520254)

  • 1. Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).
    Manea SR; Gershin IF; Babu A; Willner JP; Desnick RJ; Cotter PD
    Clin Genet; 1997 Dec; 52(6):432-5. PubMed ID: 9520254
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
    Baker PR; Tsai AC; Springer M; Swisshelm K; March J; Brown K; Bellus G
    J Craniofac Surg; 2010 Sep; 21(5):1369-75. PubMed ID: 20856023
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.
    Le Caignec C; Boceno M; Joubert M; Winer N; Aubron F; Fallet-Bianco C; Rival JM
    Prenat Diagn; 2003 Feb; 23(2):143-5. PubMed ID: 12575022
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.
    Cole H; Huang B; Salbert BA; Brown J; Howard-Peebles PN; Black SH; Dorfmann A; Febles OR; Stevens CA; Jackson-Cook C
    Am J Med Genet; 1994 Aug; 52(2):136-45. PubMed ID: 7801998
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.
    Chen H; Tuck-Muller CM; Batista DA; Wertelecki W
    Am J Med Genet; 1995 Mar; 56(2):219-33. PubMed ID: 7625449
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An atypical Turner syndrome patient with ring X chromosome mosaicism.
    Cantú ES; Jacobs DF; Pai GS
    Ann Clin Lab Sci; 1995; 25(1):60-5. PubMed ID: 7762970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Eyüpoğlu FC; Sünnetçi D; Cine N; Savli H; Okten A; Açikgöz EG; Sönmez FM
    Genet Couns; 2014; 25(3):305-13. PubMed ID: 25365853
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.
    van Langen IM; Otter MA; Aronson DC; Overweg-Plandsoen WC; Hennekam RC; Leschot NJ; Hoovers JM
    Clin Genet; 1996 Jan; 49(1):49-53. PubMed ID: 8721573
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.
    Fritz B; Küster W; Orstavik KH; Naumova A; Spranger J; Rehder H
    Hum Genet; 1998 Oct; 103(4):441-9. PubMed ID: 9856488
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature.
    Sivasankaran A; Kanakavalli MK; Anuradha D; Samuel CR; Kandukuri LR
    Cytogenet Genome Res; 2016; 148(2-3):165-73. PubMed ID: 27222354
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
    Tomkins DJ; McDonald HL; Farrell SA; Brown CJ
    Eur J Hum Genet; 2002 Jan; 10(1):44-51. PubMed ID: 11896455
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
    Chen CP; Chen M; Wang LK; Chern SR; Wu PS; Chen SW; Lai ST; Chang SP; Yang CW; Pan CW; Wang W
    Taiwan J Obstet Gynecol; 2017 Aug; 56(4):527-533. PubMed ID: 28805612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation.
    Jani MM; Torchia BS; Pai GS; Migeon BR
    Genomics; 1995 May; 27(1):182-8. PubMed ID: 7665167
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case.
    Hou JW; Liu CH; Wang TR; Zhu HM; Jiang S; Sciorra LJ; Lee ML
    J Formos Med Assoc; 1992 Nov; 91(11):1108-11. PubMed ID: 1363214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.
    Turner C; Dennis NR; Skuse DH; Jacobs PA
    Hum Genet; 2000 Jan; 106(1):93-100. PubMed ID: 10982188
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.
    Yorifuji T; Muroi J; Kawai M; Uematsu A; Sasaki H; Momoi T; Kaji M; Yamanaka C; Furusho K
    J Med Genet; 1998 Jul; 35(7):539-44. PubMed ID: 9678697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
    Demori E; Devescovi R; Benussi DG; Dolce S; Carrozzi M; Villa N; Miertus J; Amoroso A; Pecile V
    Am J Med Genet A; 2004 Oct; 130A(3):288-94. PubMed ID: 15378554
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.
    Stankiewicz P; Thiele H; Giannakudis I; Schlicker M; Baldermann C; Krüger A; Dörr S; Starke H; Hansmann I
    Am J Med Genet; 2001 Aug; 102(3):286-92. PubMed ID: 11484209
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mosaic trisomy of a small r(1) with an abnormal phenotype.
    Dawson AJ; Konkin D; Riordan D; Chudley AE
    Am J Med Genet; 2001 Sep; 103(1):32-5. PubMed ID: 11562931
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
    Louvrier C; Egea G; Labalme A; Des Portes V; Gazzo S; Callet-Bauchu E; Till M; Sanlaville D; Edery P; Schluth-Bolard C
    Cytogenet Genome Res; 2015; 147(2-3):111-7. PubMed ID: 26669311
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.