Literature DB >> 3015771

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

M Mächler, D Frey, A Gal, U Orth, T F Wienker, A Fanconi, W Schmid.   

Abstract

Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome. Close linkage was found with DNA markers DXS41 (p99-6) and DXS43 (pD2) at Xp22, suggesting a location of the HPDR gene on the distal short arm of the X chromosome.

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Year:  1986        PMID: 3015771     DOI: 10.1007/bf00401243

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


  19 in total

1.  VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

Authors:  C H BURNETT; C E DENT; C HARPER; B J WARLAND
Journal:  Am J Med       Date:  1964-02       Impact factor: 4.965

2.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

3.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors:  P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal:  J Mol Biol       Date:  1977-06-15       Impact factor: 5.469

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

Authors:  H F Willard; M H Skolnick; P L Pearson; J L Mandel
Journal:  Cytogenet Cell Genet       Date:  1985

Review 6.  Renal hypophosphatemic rickets.

Authors:  J C Chan; U Alon; G M Hirschman
Journal:  J Pediatr       Date:  1985-04       Impact factor: 4.406

7.  Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.

Authors:  D Page; B de Martinville; D Barker; A Wyman; R White; U Francke; D Botstein
Journal:  Proc Natl Acad Sci U S A       Date:  1982-09       Impact factor: 11.205

8.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

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.  Early history of familial hypophosphataemic vitamin D-resistant rickets. Report of three cases observed since birth.

Authors:  G Schimert; A Fanconi
Journal:  Helv Paediatr Acta       Date:  1983-10
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  19 in total

1.  Hypophosphatemic rickets: easy to diagnose, difficult to treat.

Authors:  R K Garg; N Tandon
Journal:  Indian J Pediatr       Date:  1999 Nov-Dec       Impact factor: 1.967

2.  Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases.

Authors:  E Pronicka; E Popowska; E Rowińska; D Piekutowska; M Oglecka; M Krajewska-Walasek
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Three DNA markers for hypophosphataemic rickets.

Authors:  P S Rowe; A P Read; R Mountford; F Benham; T A Kruse; G Camerino; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

Review 4.  Molecular genetics of mineral metabolic disorders.

Authors:  R V Thakker
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 5.  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

6.  What is the risk of a lady with familial hypophosphatemic rickets having affected children and grandchildren.

Authors:  G Kainer; J C Chan
Journal:  Pediatr Nephrol       Date:  1989-10       Impact factor: 3.714

Review 7.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

8.  Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Authors:  T Alitalo; T A Kruse; P Ahrens; H M Albertsen; A W Eriksson; A de la Chapelle
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

9.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

Review 10.  X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage.

Authors:  C R Scriver; H S Tenenhouse
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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