Literature DB >> 21749366

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

I Ceballos-Picot, G Guest, V Moriniere, L Mockel, M Daudon, V Malan, C Antignac, Laurence Heidet.   

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Year:  2011        PMID： 21749366     DOI： 10.1111/j.1399-0004.2011.01626.x

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


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  3 in total

1.  Adenine phosphoribosyltransferase deficiency in children.

Authors:  Jérôme Harambat; Guillaume Bollée; Michel Daudon; Irène Ceballos-Picot; Albert Bensman
Journal:  Pediatr Nephrol       Date:  2012-01-03       Impact factor: 3.714

Review 2.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

3.  Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.

Authors:  Takanobu Inoue; Hideaki Yagasaki; Junko Nishioka; Akie Nakamura; Keiko Matsubara; Satoshi Narumi; Kazuhiko Nakabayashi; Kazuki Yamazawa; Tomoko Fuke; Akira Oka; Tsutomu Ogata; Maki Fukami; Masayo Kagami
Journal:  J Med Genet       Date:  2018-09-21       Impact factor: 6.318
  3 in total

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