Literature DB >> 21910237

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.

Verena Matejas1, Jutta Muscheites, Marianne Wigger, Hans-Jürgen Kreutzer, Horst Nizze, Martin Zenker.   

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Year:  2011        PMID： 21910237     DOI： 10.1002/ajmg.a.34214

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

Review 1.  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

2.  Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.

Authors:  Haiyue Deng; Yanqin Zhang; Yong Yao; Huijie Xiao; Baige Su; Ke Xu; Na Guan; Jie Ding; Fang Wang
Journal:  Front Pediatr       Date:  2020-04-17       Impact factor: 3.418

3.  LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay.

Authors:  Xiaoyuan Wang; Huijie Xiao; Baige Su; Yali Ren; Jie Ding; Fang Wang
Journal:  Mol Genet Genomic Med       Date:  2021-05-13       Impact factor: 2.183

4.  Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.

Authors:  Kei Nishiyama; Mari Kurokawa; Michiko Torio; Yasunari Sakai; Mitsuru Arima; Shoko Tsukamoto; Satoshi Obata; Shogo Minamikawa; Kandai Nozu; Noriyuki Kaku; Yoshihiko Maehara; Koh-Hei Sonoda; Tomoaki Taguchi; Shouichi Ohga
Journal:  BMC Med Genet       Date:  2020-04-15       Impact factor: 2.103
  4 in total

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