Literature DB >> 8518808

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

C Weber1, C Oudet, S Johnson, G Pilia, D Schlessinger, A Hanauer.   

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Year:  1993        PMID： 8518808     DOI： 10.1093/hmg/2.5.612-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 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.  Fine mapping of the dyskeratosis congenita locus in Xq28.

Authors:  S W Knight; T Vulliamy; G L Forni; D Oscier; P J Mason; I Dokal
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

3.  Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Authors:  M Rathmann; S Bunge; M Beck; H Kresse; A Tylki-Szymanska; A Gal
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Authors:  A K Gedeon; M J Wilson; A C Colley; D O Sillence; J C Mulley
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

5.  X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Authors:  N Dahl; F Samson; N S Thomas; L J Hu; W Gong; G Herman; J Laporte; P Kioschis; A Poustka; J L Mandel
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

6.  Genetic linkage heterogeneity in myotubular myopathy.

Authors:  F Samson; L Mesnard; M Heimburger; A Hanauer; M Chevallay; J J Mercadier; J F Pelissier; N Feingold; C Junien; J L Mandel
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

7.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

8.  Two new cases of FMR1 deletion associated with mental impairment.

Authors:  M Hirst; P Grewal; A Flannery; R Slatter; E Maher; D Barton; J P Fryns; K Davies
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  8 in total

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