Literature DB >> 3226453

Linkage of X-linked nephrogenic diabetes insipidus with DXS52, a polymorphic DNA marker.

N Knoers1, H vd Heyden, B A von Oost, L Monnens, J Willems, H H Ropers.   

Abstract

In five families with X-linked nephrogenic diabetes insipidus (NDI), linkage studies with the DNA marker DXS52, defined by probe St14, have shown no recombination with a maximum combined lod score of 6.40. These results assign the NDI gene to the subtelomeric region of the X chromosome long arm. This finding should facilitate identification of carriers and should also be helpful in finding the NDI gene itself.

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Year:  1988        PMID: 3226453     DOI: 10.1159/000185155

Source DB:  PubMed          Journal:  Nephron        ISSN: 1660-8151            Impact factor:   2.847


  6 in total

1.  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

2.  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

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

Review 4.  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

5.  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

6.  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

  6 in total

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