Literature DB >> 7677161

Pallister-Killian syndrome detected by fluorescence in situ hybridization.

M G Bulter, V G Dev.   

Abstract

Mesh:

Year:  1995        PMID: 7677161      PMCID: PMC5011435          DOI: 10.1002/ajmg.1320570330

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  7 in total

1.  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.

Authors:  D Warburton; K Anyane-Yeboa; U Francke
Journal:  Am J Med Genet       Date:  1987-06

2.  Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time.

Authors:  B D Hall
Journal:  Clin Genet       Date:  1985-03       Impact factor: 4.438

3.  Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Authors:  M Larramendy; M Heiskanen; M Wessman; A Ritvanen; P Peltomäki; K Simola; H Kääriäinen; H von Koskull; M Kähkönen; S Knuutila
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

4.  Diaphragmatic hernia in tetrasomy 12p mosaicism.

Authors:  J Bergoffen; H Punnett; T J Campbell; A J Ross; E Ruchelli; E H Zackai
Journal:  J Pediatr       Date:  1993-04       Impact factor: 4.406

5.  Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.

Authors:  L J Raffel; T Mohandas; D L Rimoin
Journal:  Am J Med Genet       Date:  1986-08

6.  New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization.

Authors:  H Ohashi; S Ishikiriyama; Y Fukushima
Journal:  Am J Med Genet       Date:  1993-01-01

7.  Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

Authors:  J F Reynolds; A Daniel; T E Kelly; S M Gollin; M J Stephan; J Carey; W N Adkins; M J Webb; F Char; J F Jimenez
Journal:  Am J Med Genet       Date:  1987-06
  7 in total
  2 in total

1.  Characterization of a meiotic crossover in maize identified by a restriction fragment length polymorphism-based method.

Authors:  M C Timmermans; O P Das; J Messing
Journal:  Genetics       Date:  1996-08       Impact factor: 4.562

Review 2.  Neuroimaging findings in Pallister-Killian syndrome.

Authors:  Emil Jernstedt Barkovich; Tarannum Musvee Lateef; Matthew T Whitehead
Journal:  Neuroradiol J       Date:  2017-12-20
  2 in total

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