Literature DB >> 1357230

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

A Gal1, M Beck, A C Sewell, C P Morris, E Schwinger, J J Hopwood.   

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Year:  1992        PMID： 1357230     DOI： 10.1007/bf02435972

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

Review 1.  Report of the committee on the genetic constitution of the X chromosome.

Authors:  J L Mandel; H F Willard; R L Nussbaum; G Romeo; J M Puck; K E Davies
Journal:  Cytogenet Cell Genet       Date:  1989

2.  Genetic mapping of new RFLPs at Xq27-q28.

Authors:  G K Suthers; I Oberlé; J Nancarrow; J C Mulley; V J Hyland; P J Wilson; J McCure; C P Morris; J J Hopwood; J L Mandel
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

3.  X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Authors:  A Gal; J Mücke; H Theile; P F Wieacker; H H Ropers; T F Wienker
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

Authors:  P J Wilson; C P Morris; D S Anson; T Occhiodoro; J Bielicki; P R Clements; J J Hopwood
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

5.  Heterozygote detection in Hunter syndrome.

Authors:  J Zlotogora; G Bach
Journal:  Am J Med Genet       Date:  1984-03

6.  Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

Authors:  M Beck; C Steglich; B Zabel; N Dahl; E Schwinger; J J Hopwood; A Gal
Journal:  Am J Med Genet       Date:  1992-09-01

7.  The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).

Authors:  J E Wraith; A Cooper; M Thornley; P J Wilson; P V Nelson; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

8.  Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Authors:  P J Wilson; G K Suthers; D F Callen; E Baker; P V Nelson; A Cooper; J E Wraith; G R Sutherland; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132
  8 in total
  4 in total

1.  Germline and somatic mosaicism in a female carrier of Hunter disease.

Authors:  R Froissart; I Maire; V Bonnet; T Levade; D Bozon
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).

Authors:  P Di Natale; T Annella; A Daniele; T De Luca; E Morabito; R Pallini; P Rosario; G Spagnuolo
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.

Authors:  H Iwata; S Tomatsu; S Fukuda; A Uchiyama; G M Rezvi; T Ogawa; T Hori; Y Nakashima; A Yamagishi; K Sukegawa
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

4.  Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Authors:  J J Jonsson; E L Aronovich; S E Braun; C B Whitley
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  4 in total

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