Literature DB >> 10852378

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.

M F Manzoni, T Pramparo, A Stroppolo, F Chiaino, E Bosi, O Zuffardi, R Carrozzo.   

Abstract

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Year:  2000        PMID： 10852378     DOI： 10.1034/j.1399-0004.2000.570514.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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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

Review 3.  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

4.  Isolation and differentiation of chondrocytic cells derived from human embryonic stem cells using dlk1/FA1 as a novel surface marker.

Authors:  Linda Harkness; Hanna Taipaleenmaki; Amer Mahmood; Ulrik Frandsen; Anna-Marja Saamanen; Moustapha Kassem; Basem M Abdallah
Journal:  Stem Cell Rev Rep       Date:  2009-12       Impact factor: 5.739

5.  Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.

Authors:  Yang Soo Moon; Cynthia M Smas; Kichoon Lee; Josep A Villena; Kee-Hong Kim; Eun Jun Yun; Hei Sook Sul
Journal:  Mol Cell Biol       Date:  2002-08       Impact factor: 4.272
  5 in total

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