BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

344 related articles for article (PubMed ID: 12400074)

  • 21. Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.
    Polityko AD; Khurs OM; Kulpanovich AI; Mosse KA; Solntsava AV; Rumyantseva NV; Naumchik IV; Liehr T; Weise A; Mkrtchyan H
    Eur J Med Genet; 2009; 52(4):207-10. PubMed ID: 19375526
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Ring chromosome X in a child with manifestations of Kabuki syndrome.
    McGinniss MJ; Brown DH; Burke LW; Mascarello JT; Jones MC
    Am J Med Genet; 1997 May; 70(1):37-42. PubMed ID: 9129739
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Use of chromosome painting for marker chromosome identification in two children with congenital disorders.
    Doco-Fenzy M; Navrocki B; Cornillet P; Sabouraud P; Robillard P; Gruson N; Gaillard D; Adnet JJ
    Bull Assoc Anat (Nancy); 1994 Jun; 78(241):9-13. PubMed ID: 8086666
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.
    Tan-Sindhunata G; Castedo S; Leegte B; Mulder I; vd Veen AY; vd Hout AH; Wiersma TJ; van Essen AJ
    Am J Med Genet; 2000 May; 92(2):147-52. PubMed ID: 10797441
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.
    Muroya K; Yamamoto K; Fukushima Y; Ogata T
    Am J Med Genet; 2002 Jul; 110(4):332-7. PubMed ID: 12116206
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
    Fryns JP; Kleczkowska A; Smeets E; Van Den Berghe H
    Ann Genet; 1992; 35(2):121-3. PubMed ID: 1524410
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
    Chodirker BN; Ray M; McAlpine PJ; Riordan D; Vust A; Pugh D; Chudley AE
    Am J Med Genet; 1988 Sep; 31(1):145-51. PubMed ID: 2464927
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
    Oner G; Jauch A; Eggermann T; Hardwick R; Kirsch S; Schiebel K; Rappold G; Robson L; Smith A
    Am J Med Genet; 2000 May; 92(2):101-6. PubMed ID: 10797432
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
    Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R
    Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.
    Melo JB; Matoso E; Polityko A; Saraiva J; Backx L; Vermeesch JR; Kosyakova N; Ewers E; Liehr T; Carreira IM
    Cytogenet Genome Res; 2009; 125(2):109-14. PubMed ID: 19729913
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
    Miyoshi O; Kondoh T; Taneda H; Otsuka K; Matsumoto T; Niikawa N
    J Med Genet; 1999 Apr; 36(4):326-9. PubMed ID: 10227403
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Duplication 20p identified via fluorescent in situ hybridization.
    LeChien KA; McPherson E; Estop AM
    Am J Med Genet; 1994 Apr; 50(2):187-9. PubMed ID: 7516625
    [TBL] [Abstract][Full Text] [Related]  

  • 33. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
    Dupont C; Pipiras E; Chantot-Bastaraud S; Verloes A; Baumann C; Wolf JP; Benzacken B
    Eur J Hum Genet; 2003 Jun; 11(6):452-6. PubMed ID: 12774038
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Familial ring (19) chromosome mosaicism: case report and review.
    Flejter WL; Finlinson D; Root S; Nguyen W; Brothman AR; Viskochil D
    Am J Med Genet; 1996 Dec; 66(3):276-80. PubMed ID: 8985487
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.
    Tonk V; Schneider NR; Delgado MR; Mao J; Schultz RA
    Am J Med Genet; 1996 Jan; 61(1):16-20. PubMed ID: 8741911
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.
    Souraty N; Sanlaville D; Chédid R; Le Lorc'h M; Maurin ML; Ghanem L; Maalouf S; Vekemans M; Mégarbané A
    Eur J Med Genet; 2007; 50(5):379-85. PubMed ID: 17716964
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Supernumerary chromosome marker (1) in a developmentally delayed child.
    Lanphear N; Lamb A; Oppenheimer S; Soukup S
    Am J Med Genet; 1995 Jul; 57(3):400-2. PubMed ID: 7545867
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
    Baumer A; Basaran S; Taralczak M; Cefle K; Ozturk S; Palanduz S; Schinzel A
    Cytogenet Genome Res; 2007; 118(1):38-41. PubMed ID: 17901698
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
    Bertini V; Valetto A; Uccelli A; Tarantino E; Simi P
    Fertil Steril; 2008 Nov; 90(5):2004.e1-5. PubMed ID: 18371955
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child.
    Lee MH; Park SY; Kim YM; Kim JM; Yoo KJ; Lee HH; Ryu HM
    Cytogenet Genome Res; 2005; 111(2):175-8. PubMed ID: 16103661
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.