Literature DB >> 2856983

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.

J Hammond, N J Howard, R Brookwell, S Purvis-Smith, B Wilcken, N Hoogenraad.   

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Year:  1985        PMID： 2856983     DOI： 10.1016/s0140-6736(85)91009-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  11 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

Review 2.  Hypogonadotropic hypogonadism in subjects with DAX1 mutations.

Authors:  Unmesh Jadhav; Rebecca M Harris; J Larry Jameson
Journal:  Mol Cell Endocrinol       Date:  2011-06-13       Impact factor: 4.102

Review 3.  Recently recognized chromosomal defects of clinical importance.

Authors:  M Pembrey; M Baraitser
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

4.  Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

Authors:  D A Pillers; J A Towbin; J S Chamberlain; D Wu; J Ranier; B R Powell; E R McCabe
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

5.  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

6.  Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Authors:  E R McCabe; J Towbin; J Chamberlain; L Baumbach; J Witkowski; G J van Ommen; M Koenig; L M Kunkel; W K Seltzer
Journal:  J Clin Invest       Date:  1989-01       Impact factor: 14.808

7.  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

8.  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 9.  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

10.  Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.

Authors:  F Marlhens; J Chelly; J C Kaplan; D Lefrancois; J P Harpey; B Dutrillaux
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132
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