About the Foundation
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NDI: An Overview
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What will happen in the future?
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2004 - Phoenix
2002 - Heemskerk
2000 - La Jolla
1999 - Amsterdam
1998 - La Jolla
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Useful Links
T. Mary Fujiwara
Email:
Phone:
Work (514) 937-6011, Fax (514) 934-8273
Organization:
Montreal General Hospital
Division:
Division of Medical Genetics, Room L10-109
Address:
1650 Cedar Avenue
Montreal, Quebec H3G 1A4
Canada
10 Articles
10 Articles
Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus
Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-terminus
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
Molecular Biology of Diabetes Insipidus
Nature and Recurrence of AVPR2 Mutations in X-Linked Nephrogenic Diabetes Insipidus
X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
X-linked Nephrogenic Diabetes Insipidus: from the Ship Hopewell to RFLP Studies
7 Conference Proceedings
7 Conference Proceedings
Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
Nephrogenic Diabetes Insipidus Mutation Database
Congenital (present a birth) severe diabetes insipidus. Most patients have nephrogenic diabetes insipidus (NDI), but some patients have autosomal recessive central (neurogenic) diabetes insipidus
Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
Thirteen Large Deletions/Rearrangements of the AVPR2 Gene Causing X-linked Nephrogenic Diabetes Insipidus
Long-range transcriptional regulation of the AVPR2 gene
Clinical and genetic approaches to the diagnosis of congenital polyuro-polydipsic syndromes