Literature DB >> 2090424

How imprinting is relevant to human disease.

J G Hall1.   

Abstract

Genomic imprinting appears to be a ubiquitous process in mammals involving many chromosome segments whose affects are dependent on their parental origin. One of the challenges for clinical geneticists is to determine which disorders are manifesting imprinting effects and which families are affected. Re-evaluation of cases of chromosomal abnormalities and family histories of disease manifestations should give important clues. Examination of the regions of human chromosomes homologous to mouse imprinted chromosomal regions may yield useful information. Cases of discordance in monozygous twins may also provide important insights into imprinted modification of diseases.

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Year:  1990        PMID: 2090424

Source DB:  PubMed          Journal:  Dev Suppl


  8 in total

Review 1.  Genomic imprinting in plants: observations and evolutionary implications.

Authors:  M Alleman; J Doctor
Journal:  Plant Mol Biol       Date:  2000-06       Impact factor: 4.076

2.  Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  P W Speiser; J Dupont; D Zhu; J Serrat; M Buegeleisen; M T Tusie-Luna; M Lesser; M I New; P C White
Journal:  J Clin Invest       Date:  1992-08       Impact factor: 14.808

3.  Genomic imprinting for pathologists.

Authors:  C L Berry
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991

4.  DNA methylation changes during mouse spermatogenesis.

Authors:  J del Mazo; G Prantera; M Torres; M Ferraro
Journal:  Chromosome Res       Date:  1994-03       Impact factor: 5.239

5.  The Y chromosome of Drosophila melanogaster exhibits chromosome-wide imprinting.

Authors:  Keith A Maggert; Kent G Golic
Journal:  Genetics       Date:  2002-11       Impact factor: 4.562

6.  The fragile X premutation in carriers and its effect on mutation size in offspring.

Authors:  G S Fisch; K Snow; S N Thibodeau; M Chalifaux; J J Holden; D L Nelson; P N Howard-Peebles; A Maddalena
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

7.  Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Authors:  E J Meijers-Heijboer; L A Sandkuijl; H G Brunner; H J Smeets; A J Hoogeboom; W H Deelen; J O van Hemel; M R Nelen; D F Smeets; M F Niermeijer
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

8.  Decreased expression of Ras GTPase activating protein in human trophoblastic tumors.

Authors:  M Ståhle-Bäckdhal; M Inoue; J Zedenius; B Sandstedt; L DeMarco; F Flam; C Silfverswärd; J Andrade; E Friedman
Journal:  Am J Pathol       Date:  1995-05       Impact factor: 4.307

  8 in total

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