Literature DB >> 890087

The pallister mosaic syndrome.

P D Pallister, L F Meisner, B R Elejalde, U Francke, J Herrmann, J Spranger, W Tiddy, S L Inhorn, J M Opitz.   

Abstract

Mesh：

Year:  1977        PMID： 890087

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  25 in total

1.  Tetrasomy 12p (Pallister-Killian syndrome).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

Authors:  Robert Smigiel; Jacek Pilch; Izabela Makowska; Halina Busza; Ryszard Slezak; Maria M Sasiadek
Journal:  Eur J Pediatr       Date:  2007-11-14       Impact factor: 3.183

3.  12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Authors:  Kosuke Izumi; Zhe Zhang; Maninder Kaur; Ian D Krantz
Journal:  Chromosome Res       Date:  2014-07-01       Impact factor: 5.239

4.  Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.

Authors:  Josef Davidsson; Bertil Johansson
Journal:  Epigenetics       Date:  2016-02-18       Impact factor: 4.528

5.  Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.

Authors:  Francis M Filloux; John C Carey; Ian D Krantz; Jeffrey J Ekstrand; Meghan S Candee
Journal:  Eur J Med Genet       Date:  2012-02-01       Impact factor: 2.708

Review 6.  Neuroimaging findings in Pallister-Killian syndrome.

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

Review 7.  Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

Authors:  I T Thomas; J L Frias; E S Cantu; C Z Lafer; D B Flannery; J G Graham
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

8.  Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

Authors:  C Turleau; F Taillard; M Doussau de Bazignan; N Delépine; J C Desbois; J de Grouchy
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

Review 9.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

Review 10.  Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Authors:  Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Monica Cristina Panzaru; Sorina Mihaela Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu
Journal:  Genes (Basel)       Date:  2021-05-26       Impact factor: 4.096
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