Literature DB >> 26169481

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.

D T Papadimitriou1, E Manolakos2, C Bothou3, G Zoupanos4, I Papoulidis5, S Orru6, F Skarmoutsos7, A Delides8, C Bakoula9, A Papadimitriou10, F Urano11.   

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Year:  2015        PMID： 26169481     DOI： 10.1016/j.diabet.2015.06.003

Source DB:  PubMed          Journal:  Diabetes Metab        ISSN： 1262-3636            Impact factor:   6.041


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  2 in total

Review 1.  Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Authors:  Maurizio Delvecchio; Matteo Iacoviello; Antonino Pantaleo; Nicoletta Resta
Journal:  Int J Environ Res Public Health       Date:  2021-04-30       Impact factor: 3.390

2.  A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.

Authors:  Dimitrios T Papadimitriou; Kleanthis Kleanthous; Emmanouil Manolakos; Anatoly Tiulpakov; Thomas Nikolopoulos; Alexandros Delides; Gerasimos Voros; Argyrios Dinopoulos; George Zoupanos; Anastasios Papadimitriou; Georgios Mastorakos; Fumihiko Urano
Journal:  Clin Case Rep       Date:  2019-10-23
  2 in total

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