(Q24672642)

2

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M Lonergan

3

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M F Arthus

4

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W Rosenthal

5

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P Goodyer

6

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H Nivet

7

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S Benoit

8

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P Giampietro

9

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S Simonetti

American Journal of Human Genetics

10

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language of work or name

English

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publication date

August 1994

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published in

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volume

55

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issue

2

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page(s)

278-86

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cites work

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Structure and chromosomal localization of the human antidiuretic hormone receptor gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Molecular cloning of the receptor for human antidiuretic hormone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Germinal mosaicism and risk calculation in X-linked diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

DNA structure, mutations, and human genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918376

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

28 September 2017

1 reference

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Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993.

28 September 2017

1 reference

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Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus

28 November 2018

1 reference

12 December 2020

Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus

1 reference

12 December 2020

Fragile X founder effect?

1 reference

12 December 2020

Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase

1 reference

12 December 2020

A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred

1 reference

12 December 2020

G6PD haplotypes spanning Xq28 from F8C to red/green color vision

1 reference

12 December 2020

Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus

1 reference

12 December 2020

Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus

1 reference

12 December 2020