Literature DB >> 2894172

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

M Kambouris1, S R Dlouhy, J A Trofatter, P M Conneally, M E Hodes.   

Abstract

X-linked nephrogenic diabetes insipidus (NDI) was segregating in a large Indiana family. It was tested for linkage of the NDI gene to X-chromosome molecular markers. Maximum lod scores of 3.15 and 3.01 (theta = 0) obtained for the molecular markers F8A (F8C) and DXS15 (DX13) respectively, indicate that the NDI gene is located in Xq28. A lod score of 3.61 (theta = 0) was obtained with multipoint linkage analysis of F8A and DXS15.

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Year:  1988        PMID： 2894172     DOI： 10.1002/ajmg.1320290138

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  11 in total

Review 1.  Gene mapping of mineral metabolic disorders.

Authors:  R V Thakker; K E Davies; J L O'Riordan
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

Authors:  Alejandro García Castaño; Gustavo Pérez de Nanclares; Leire Madariaga; Mireia Aguirre; Sara Chocron; Alvaro Madrid; Francisco Javier Lafita Tejedor; Mercedes Gil Campos; Jaime Sánchez Del Pozo; Rafael Ruiz Cano; Mar Espino; Jose Maria Gomez Vida; Fernando Santos; Victor Manuel García Nieto; Reyner Loza; Luis Miguel Rodríguez; Emilia Hidalgo Barquero; Nikoleta Printza; Juan Antonio Camacho; Luis Castaño; Gema Ariceta
Journal:  Eur J Pediatr       Date:  2015-04-23       Impact factor: 3.183

3.  Intracranial calcifications and nephrogenic diabetes insipidus.

Authors:  M Di Rocco; P Picco; P Gandullia; C Borrone
Journal:  Eur J Pediatr       Date:  1991-06       Impact factor: 3.183

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

Authors:  D G Bichet; M F Arthus; M Lonergan; G N Hendy; A J Paradis; T M Fujiwara; K Morgan; M C Gregory; W Rosenthal; A Didwania
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

5.  Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome.

Authors:  N Knoers; H van der Heyden; B A van Oost; H H Ropers; L Monnens; J Willems
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

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

Authors:  D G Bichet; G N Hendy; M Lonergan; M F Arthus; S Ligier; Z Pausova; R Kluge; H Zingg; P Saenger; E Oppenheimer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

7.  A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

Authors:  K Kinoshita; Y Miura; H Nagasaki; T Murase; Y Bando; Y Oiso
Journal:  J Endocrinol Invest       Date:  2004-02       Impact factor: 4.256

8.  Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Authors:  R S Wildin; M J Antush; R L Bennett; J M Schoof; C R Scott
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

Authors:  E Friedman; A E Bale; E Carson; W L Boson; M Nordenskjöld; M Ritzén; P C Ferreira; A Jammal; L De Marco
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-30       Impact factor: 11.205

10.  Structure and chromosomal localization of the human antidiuretic hormone receptor gene.

Authors:  A Seibold; P Brabet; W Rosenthal; M Birnbaumer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025
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