Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

by Shivani Joshi, Per Brandstrom, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
Published 2017-09-01

Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy

by Johanne Emy Sollid, Shivani Joshi, Malgorzata  Pulczynska Wason, Søren Rittig, Jane Hvarregaard Christensen, Konstantinos Kamperis
Published 2020-10-01

A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the <i>AVP</i> Gene

by Vera Tocci, Maria Mirabelli, Stefania Giuliano, Eusebio Chiefari, Jane Hagelskjær Knudsen, Helene Kvistgaard, Domenico La Torre, Antonio Aversa, Daniela Patrizia Foti, Jane Hvarregaard Christensen, Antonio Brunetti
Published 2021-02-01

Brain proteome changes in female Brd1+/− mice unmask dendritic spine pathology and show enrichment for schizophrenia risk

by Veerle Paternoster, Maria Svanborg, Anders Valdemar Edhager, Anto P. Rajkumar, Esben Ahlburg Eickhardt, Jonatan Pallesen, Jakob Grove, Per Qvist, Tue Fryland, Gregers Wegener, Jens Randel Nyengaard, Ole Mors, Johan Palmfeldt, Anders Dupont Børglum, Jane Hvarregaard Christensen
Published 2019-04-01