Literature DB >> 9382150

Another case of maternal uniparental disomy chromosome 14 syndrome.

M P Splitt, J A Goodship.   

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Year:  1997        PMID: 9382150     DOI: 10.1002/(sici)1096-8628(19971017)72:2<239::aid-ajmg21>3.0.co;2-n

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


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  5 in total

1.  Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.

Authors:  Sami Tsukishiro; Qing Ying Li; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2005-03-04       Impact factor: 3.172

2.  Growth parameters in maternal uniparental disomy 7 and 14.

Authors:  Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2007-01-04       Impact factor: 3.183

3.  De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Authors:  C P Chen; S R Chern; C C Lee; W L Chen; M H Chen; K M Chang
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 4.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

5.  Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Authors:  Melita D Irving; Karin Buiting; Deniz Kanber; Celia Donaghue; Reiner Schulz; Amaka Offiah; Shehla N Mohammed; Rebecca J Oakey
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

  5 in total

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