Literature DB >> 2988829

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

B Wieringa, T Hustinx, J Scheres, W Renier, B ter Haar.   

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Year:  1985        PMID： 2988829     DOI： 10.1111/j.1399-0004.1985.tb00244.x

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


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  22 in total

1.  [Recurrent anorexia and pigmentation of skin for more than two months in an infant].

Authors:  Zhang-Qian Zheng; Bing-Bing Wu; Miao-Ying Zhang; Wei Lu; Fei-Hong Luo
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-08

2.  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

3.  Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.

Authors:  M A Musarella; A Burghes; L Anson-Cartwright; M M Mahtani; R Argonza; L C Tsui; R Worton
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Authors:  M H Hofker; A A Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; E Bakker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

5.  Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Authors:  M H Hofker; G J van Ommen; E Bakker; M Burmeister; P L Pearson
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

6.  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

7.  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

8.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

9.  An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

Authors:  F P Cremers; R A Pfeiffer; T J van de Pol; M H Hofker; T A Kruse; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

10.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025
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