Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting

Author:

Kotzot Dieter

Publisher

Elsevier BV

Subject

Genetics

Reference40 articles.

1. Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14;Antonarakis;Am J Hum Genet,1993

2. Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier;Barton;Am J Hum Genet,1996

3. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader–Willi phenotype;Berends;Am J Med Genet,1999

4. Prader–Willi and Angelman syndromes: sister imprinted disorders;Cassidy;Am J Med Genet,2000

5. Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8;Charlier;Genome Res,2001

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