Literature DB >> 27922284

Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat.

Wing Cheong Leung1, Wai Lam Lau1, T K Lo2, Tze Kin Lau3, Y Y Lam4, Anita Kan2, Kelvin Chan2, Elizabeth T Lau5, Mary H Tang5.   

Abstract

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Year:  2016        PMID： 27922284     DOI： 10.1080/01443615.2016.1242558

Source DB:  PubMed          Journal:  J Obstet Gynaecol        ISSN： 0144-3615            Impact factor:   1.246


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  2 in total

1.  The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Authors:  Thomas Eggermann; Barbara Oehl-Jaschkowitz; Severin Dicks; Wolfgang Thomas; Deniz Kanber; Beate Albrecht; Matthias Begemann; Ingo Kurth; Jasmin Beygo; Karin Buiting
Journal:  Mol Genet Genomic Med       Date:  2017-09-22       Impact factor: 2.183

2.  Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.

Authors:  Emmanuelle Souzeau; Jennifer A Thompson; Terri L McLaren; John N De Roach; Christopher P Barnett; Tina M Lamey; Jamie E Craig
Journal:  Mol Vis       Date:  2018-07-21       Impact factor: 2.367
  2 in total

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