Molecular cytogenetic study of patients with Pallister-Killian syndrome

[1]  F. Speleman,et al.  Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. , 1991, American journal of medical genetics.

[2]  S Woessner,et al.  Trisomy 12 in chronic lymphocytic leukemia: an interphase cytogenetic study. , 1991, Blood.

[3]  V. Reuter,et al.  Detection and analysis of origin of i(12p), a diagnostic marker of human male germ cell tumors, by fluorescence in situ hybridization , 1991, Genes, chromosomes & cancer.

[4]  S. Soukup,et al.  Prenatal diagnosis of Pallister-Killian syndrome. , 1990, American journal of medical genetics.

[5]  M. Steele,et al.  Mosaicism in Pallister i(12p) syndrome. , 1990, American journal of medical genetics.

[6]  P. Marynen,et al.  Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome , 1989, Human Genetics.

[7]  J. Fryns,et al.  [Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year]. , 1989 .

[8]  S. Knuutila,et al.  Immunophenotyping of aneuploid cells. , 1989, Cancer genetics and cytogenetics.

[9]  A. Robinson,et al.  Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis. , 1988, American journal of medical genetics.

[10]  O. Quarrell,et al.  Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. , 1988, American journal of medical genetics.

[11]  D. Pinkel,et al.  Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[12]  D. Ward,et al.  Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries , 1988, Human Genetics.

[13]  L. Manuelidis,et al.  Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes , 1988, Human Genetics.

[14]  H. Rehder,et al.  Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect , 1987, Clinical genetics.

[15]  R. Pauli,et al.  Mosaic isochromosome 12p. , 1987, American journal of medical genetics.

[16]  A. Chapelle,et al.  Pallister‐Killian syndrome: cytogenetic and molecular studies , 1987, Clinical genetics.

[17]  J. Opitz,et al.  Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. , 1987, American journal of medical genetics.

[18]  U. Francke,et al.  Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. , 1987, American journal of medical genetics.

[19]  T. Mohandas,et al.  Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. , 1986, American journal of medical genetics.

[20]  E. Boerwinkle,et al.  Bias of the contribution of single-locus effects to the variance of a quantitative trait. , 1986, American journal of human genetics.

[21]  J W Gray,et al.  Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[22]  M. Prieur,et al.  Mosaic tetrasomy 12p , 1985, Clinical genetics.

[23]  P. Wyatt,et al.  Prenatal diagnosis of tetrasomy 21 , 1985, Prenatal diagnosis.

[24]  B. Hall Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time , 1985, Clinical genetics.

[25]  F. Arwert,et al.  Mosaic tetrasomy 21 in a male child , 1984, Clinical genetics.

[26]  J. Fryns,et al.  Mosaic tetrasomy 21 in severe mental handicap , 1982, European Journal of Pediatrics.

[27]  S. MacMurray,et al.  Mosaic tetrasomy 21 in a liveborn male infant , 1982, Clinical genetics.

[28]  C. E. Hildebrand,et al.  Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis , 2004, Chromosoma.

[29]  H. Willard,et al.  Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. , 1991, Cytogenetics and cell genetics.