Literature DB >> 2843456

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

N Knoers1, H van der Heyden, B A van Oost, H H Ropers, L Monnens, J Willems.   

Abstract

Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.

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Year:  1988        PMID： 2843456     DOI： 10.1007/BF00451451

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  29 in total

1.  Inheritance of vasopressin-resistant ("nephrogenic") diabetes insipidus.

Authors:  M G ROBINSON; S A KAPLAN
Journal:  AMA J Dis Child       Date:  1960-02

2.  The carrier state in nephrogenic diabetes insipidus.

Authors:  C CARTER; M SIMPKISS
Journal:  Lancet       Date:  1956-11-24       Impact factor: 79.321

3.  The effect of exogenous 3':5'-adenosine monophosphate on urinary output in children with vasopressin-resistant diabetes insipidus.

Authors:  W Proesmans; E Eggermont; M Vanderschueren-Lodeweyckx; H Tiddens; R Eeckels
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756

4.  Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

Authors:  N S Thomas; H Williams; L J Elsas; L C Hopkins; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

5.  Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.

Authors:  C W Hay; K A Robertson; S L Yong; A R Thompson; G H Growe; R T MacGillivray
Journal:  Blood       Date:  1986-05       Impact factor: 22.113

6.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

7.  Electrophoretic separations of large DNA molecules by periodic inversion of the electric field.

Authors:  G F Carle; M Frank; M V Olson
Journal:  Science       Date:  1986-04-04       Impact factor: 47.728

8.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

9.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

10.  Linkage of adrenoleukodystrophy to a polymorphic DNA probe.

Authors:  P R Aubourg; G H Sack; D A Meyers; J J Lease; H W Moser
Journal:  Ann Neurol       Date:  1987-04       Impact factor: 10.422
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  9 in total

1.  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

2.  A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

Authors:  S Kenwrick; J Gitschier
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

Review 3.  Nephrogenic diabetes insipidus: identification of the genetic defect.

Authors:  N Knoers; A van den Ouweland; J Dreesen; M Verdijk; L A Monnens; B A van Oost
Journal:  Pediatr Nephrol       Date:  1993-10       Impact factor: 3.714

4.  Successful treatment with hydrochlorothiazide and amiloride in an infant with congenital nephrogenic diabetes insipidus.

Authors:  T M Uyeki; F L Barry; S M Rosenthal; R S Mathias
Journal:  Pediatr Nephrol       Date:  1993-10       Impact factor: 3.714

Review 5.  Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics and treatment.

Authors:  N Knoers; L A Monnens
Journal:  Pediatr Nephrol       Date:  1992-09       Impact factor: 3.714

6.  Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

Authors:  B J Trask; H Massa; S Kenwrick; J Gitschier
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

7.  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

8.  A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney.

Authors:  N Knoers; L A Monnens
Journal:  Eur J Pediatr       Date:  1991-03       Impact factor: 3.183

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
  9 in total

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