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Journal Abstract Search

278 related items for PubMed ID: 11528501

  • 1. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
    Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning M, Enders H, Eggermann T.
    Eur J Hum Genet; 2001 Aug; 9(8):572-6. PubMed ID: 11528501
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  • 2. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
    Huang XL, Isabel de Michelena M, Leon E, Maher TA, McClure R, Milunsky A.
    Clin Genet; 2007 Nov; 72(5):434-40. PubMed ID: 17894838
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  • 3. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
    Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T.
    Eur J Med Genet; 2005 Nov; 48(3):319-27. PubMed ID: 16179227
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  • 4. Identification of an unusual marker chromosome by spectral karyotyping.
    Huang B, Ning Y, Lamb AN, Sandlin CJ, Jamehdor M, Ried T, Bartley J.
    Am J Med Genet; 1998 Dec 04; 80(4):368-72. PubMed ID: 9856565
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  • 5. Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
    Reddy KS, Sulcova V, Schwartz S, Noble JE, Phillips J, Brasel JA, Huff K, Lin HJ.
    Am J Med Genet; 2000 May 01; 92(1):69-76. PubMed ID: 10797426
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  • 8. Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.
    Huang XL, de Michelena MI, Mark H, Harston R, Benke PJ, Price SJ, Milunsky A.
    Clin Genet; 2005 Dec 01; 68(6):513-9. PubMed ID: 16283881
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  • 9. Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome.
    Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P.
    Cytogenet Cell Genet; 2000 Dec 01; 91(1-4):165-70. PubMed ID: 11173851
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  • 10. Pallister-Killian syndrome: report of one case.
    Wu HC, Lin LH, Tsai LP, Huang CH, Hung KL, Liao HT.
    Acta Paediatr Taiwan; 2006 Dec 01; 47(3):139-41. PubMed ID: 17078467
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  • 11. Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.
    Gerdes AM, Hansen LK, Brandrup F, Soegaard K, Christoffersen A, Rasmussen K.
    Pediatr Dermatol; 2006 Dec 01; 23(4):378-81. PubMed ID: 16918638
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  • 15. Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
    Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann PD, Rehder H, Waldenmaier C, Zoll B.
    Am J Med Genet; 1992 Mar 01; 42(5):747-50. PubMed ID: 1632452
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  • 16. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
    Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O.
    Eur J Med Genet; 2007 Mar 01; 50(4):264-73. PubMed ID: 17567547
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  • 17. Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.
    Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM.
    Am J Med Genet; 2002 Nov 15; 113(1):82-8. PubMed ID: 12400070
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  • 18. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 Nov 15; 50(3):224-32. PubMed ID: 17329177
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