Literature DB >> 11017955

Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.

A P Abbes1, B Bruggeman, E L van Den Akker, M R de Groot, A A Franken, V R Drexhage, H Engel.   

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Year:  2000        PMID： 11017955

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  3 in total

1.  A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.

Authors:  Theron A Russell; Masafumi Ito; Mika Ito; Richard N Yu; Fred A Martinson; Jeffrey Weiss; J Larry Jameson
Journal:  J Clin Invest       Date:  2003-12       Impact factor: 14.808

2.  Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus.

Authors:  Merve Özcan Türkmen; Tugce Karaduman; Beril Erdem Tuncdemir; Mehmet Altay Ünal; Hatice Mergen
Journal:  Endocrine       Date:  2021-07-07       Impact factor: 3.633

3.  Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred.

Authors:  Maria Grazia Castagna; Marco Capezzone; Carlotta Marzocchi; Silvia Cantara; Alfonso Sagnella
Journal:  Endocrine       Date:  2021-07-28       Impact factor: 3.633
  3 in total

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