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Journal Abstract Search

319 related items for PubMed ID: 16283881

  • 21. 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; 50(4):264-73. PubMed ID: 17567547
    [Abstract] [Full Text] [Related]

  • 22. A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker.
    Dutta UR, Vempally S, Ranganath P, Dalal A.
    Gene; 2014 Apr 10; 539(1):162-7. PubMed ID: 24508374
    [Abstract] [Full Text] [Related]

  • 23. [Delineating a supernumerary marker chromosome by combining several cytogenetic and molecular cytogenetic techniques].
    Tan YQ, Di YF, Song YZ, Cheng DH, Li LY, Lu GX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug 10; 24(4):392-6. PubMed ID: 17680527
    [Abstract] [Full Text] [Related]

  • 24. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
    Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.
    Clin Genet; 2006 Feb 10; 69(2):124-34. PubMed ID: 16433693
    [Abstract] [Full Text] [Related]

  • 25. 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 Feb 10; 48(3):319-27. PubMed ID: 16179227
    [Abstract] [Full Text] [Related]

  • 26. First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q.
    Mascarenhas A, Matoso E, Saraiva J, Tönnies H, Gerlach A, Julião MJ, Melo JB, Carreira IM.
    Cytogenet Genome Res; 2008 Feb 10; 121(3-4):293-7. PubMed ID: 18758175
    [Abstract] [Full Text] [Related]

  • 27. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.
    Exp Mol Pathol; 2006 Jun 10; 80(3):262-6. PubMed ID: 16516886
    [Abstract] [Full Text] [Related]

  • 28. Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
    Van den Enden A, Verschraegen-Spae MR, Van Roy N, Decaluwe W, De Praeter C, Speleman F.
    Am J Med Genet; 1996 Jun 14; 63(3):482-5. PubMed ID: 8737657
    [Abstract] [Full Text] [Related]

  • 29. Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype.
    Acar H, Cora T, Erkul I.
    Genet Couns; 1999 Jun 14; 10(2):163-70. PubMed ID: 10422010
    [Abstract] [Full Text] [Related]

  • 30. Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
    George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ.
    Am J Med Genet A; 2012 Aug 14; 158A(8):1971-6. PubMed ID: 22711292
    [Abstract] [Full Text] [Related]

  • 31. 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 Aug 14; 125(2):109-14. PubMed ID: 19729913
    [Abstract] [Full Text] [Related]

  • 32. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
    Mark HF, Wyandt H, Huang XL, Milunsky JM.
    Clin Genet; 2005 Aug 14; 68(2):146-51. PubMed ID: 15996211
    [Abstract] [Full Text] [Related]

  • 33. An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection.
    Mahjoubi F, Peters GB, Malafiej P, Shalhoub C, Turner A, Daniel A, Hill RJ.
    Cytogenet Genome Res; 2005 Aug 14; 109(4):485-90. PubMed ID: 15905642
    [Abstract] [Full Text] [Related]

  • 34. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
    Bartsch O, Rasi S, Hoffmann K, Blin N.
    Eur J Hum Genet; 2005 May 14; 13(5):592-8. PubMed ID: 15756300
    [Abstract] [Full Text] [Related]

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  • 36. Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization.
    Zhao J, Gordon PL, Wilroy RS, Martens PR, Tarleton J, Shulman LP, Simpson JL, Elias S, Tharapel AT.
    Am J Med Genet; 1995 May 08; 56(4):398-402. PubMed ID: 7604849
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  • 38. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance.
    Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S.
    Prenat Diagn; 2006 Dec 08; 26(12):1142-50. PubMed ID: 17009345
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  • 40. Neocentromere formation in a stable ring 1p32-p36.1 chromosome.
    Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH.
    J Med Genet; 1999 Dec 08; 36(12):914-8. PubMed ID: 10593999
    [Abstract] [Full Text] [Related]

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