Literature DB >> 11768396

Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.

B Röthlisberger, T Zerova, D Kotzot, T I Buzhievskaya, D Balmer, A Schinzel.   

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Year:  2001        PMID： 11768396      PMCID： PMC1734780          DOI： 10.1136/jmg.38.12.885

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Authors:  Lana Stavber; Sara Bertok; Jernej Kovač; Marija Volk; Luca Lovrečić; Tadej Battelino; Tinka Hovnik
Journal:  Mol Cytogenet       Date:  2017-03-23       Impact factor: 2.009

2.  Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Authors:  Emanuela Ponzi; Viola Alesi; Francesca R Lepri; Silvia Genovese; Sara Loddo; Mafalda Mucciolo; Antonio Novelli; Carlo Dionisi-Vici; Arianna Maiorana
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

Review 3.  Small supernumerary marker chromosomes and their correlation with specific syndromes.

Authors:  Hamideh Jafari-Ghahfarokhi; Maryam Moradi-Chaleshtori; Thomas Liehr; Morteza Hashemzadeh-Chaleshtori; Hossein Teimori; Payam Ghasemi-Dehkordi
Journal:  Adv Biomed Res       Date:  2015-07-27
  3 in total

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