Literature DB >> 3004790

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.

F Saito, J Goto, H Kakinuma, F Nakamura, S Murayama, I Nakano, A Tonomura.   

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Year:  1986        PMID： 3004790     DOI： 10.1111/j.1399-0004.1986.tb00777.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors:  A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

2.  Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Authors:  F P Cremers; E M Sankila; F Brunsmann; M Jay; B Jay; A Wright; A J Pinckers; M Schwartz; D J van de Pol; B Wieringa
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

3.  Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.

Authors:  A Clarke; S H Roberts; N S Thomas; A Whitfield; J Williams; P S Harper
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

4.  Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.

Authors:  B T Darras; U Francke
Journal:  Am J Hum Genet       Date:  1988-08       Impact factor: 11.025

5.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

6.  Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

Authors:  E R McCabe; J A Towbin; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

Review 7.  Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.

Authors:  W Werner; A W Spiegler
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

8.  Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Authors:  J Chelly; F Marlhens; B Dutrillaux; G J Van Ommen; M Lambert; B Haioun; G Boissinot; M Fardeau; J C Kaplan
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

9.  Molecular deletion analysis in Duchenne muscular dystrophy.

Authors:  N S Thomas; P N Ray; R G Worton; P S Harper
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318
  9 in total

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