Back to search

Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization

Data up to Jan 2025

Published1991
Citations63
References29

Total Citations Per Year

Abstract

References (29)

In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors

1988 • 462 citations

Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

1985 • 420 citations

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84

1986 • 380 citations

Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes.

1988 • 231 citations

Detection of the Philadelphia chromosome in interphase nuclei

1990 • 185 citations

The pallister mosaic syndrome.

1977 • 153 citations

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases

1987 • 138 citations

Detection of chromosome aberrations in interphase tumor nuclei by nonradioactive in situ hybridization

1989 • 110 citations

Pallister‐Killian syndrome: cytogenetic and molecular studies

1987 • 103 citations

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndrome

1985 • 95 citations

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics

1990 • 90 citations

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 • 87 citations

Localization and polymorphism of a chromosome 12-specific α satellite DNA sequence

1990 • 73 citations

Mosaic tetrasomy 12p

1985 • 72 citations

Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization.

1991 • 68 citations

Isochromosome 12p mosaicism (Pallister‐Killian syndrome): Newborn diagnosis by direct bone marrow analysis

1988 • 59 citations

Mosaicism in Pallister i(12p) syndrome

1990 • 52 citations

Prenatal diagnosis of Pallister‐Killian syndrome

1990 • 46 citations

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect

1987 • 46 citations

Prenatal diagnosis of tetrasomy 47,XY, + i(12p) confirmed by in situ hybridization

1988 • 44 citations

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome

1989 • 42 citations

Prenatal diagnosis of tetrasomy 21

1985 • 39 citations

Mosaic isochromosome 12p

1987 • 38 citations

Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization

1990 • 24 citations

Pallister‐Killian mosaic syndrome with emphasis on the adult phenotype

1988 • 24 citations

"Killian Syndrome", Pallister mosaic syndrome, or mosaic tetrasomy 12P? - an analysis.

1983 • 22 citations

Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome.

1989 • 16 citations

836 LD-B DOSE EFFECT IN TETRASOMY 12p PSEUDOMOSAICISM

1985 • 5 citations

Amniotic fluid gel acetylcholinesterase determination in prenatal diagnosis: Dark field illumination as a method for improving the detection of precipitation bands

1985 • 5 citations

Cited By (0)

Loading...
Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In… (1991) – American Journal of Medical Genetics | Metascience Observatory Explorer