Literature DB >> 8454295

Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism.

H Traupe, U Vetter, R Happle, L W Fisher, F P Cremers, S J Landy, R Pankau, H H Ropers.   

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Year:  1993        PMID： 8454295     DOI： 10.1007/bf00230233

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  12 in total

1.  Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Authors:  H Traupe; D Müller; D Atherton; D C Kalter; F P Cremers; B A van Oost; H H Ropers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

3.  Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.

Authors:  H Traupe; A M van den Ouweland; B A van Oost; W Vogel; U Vetter; S T Warren; M Rocchi; M G Darlison; H H Ropers
Journal:  Genomics       Date:  1992-06       Impact factor: 5.736

4.  X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Authors:  R Happle
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

5.  Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Authors:  A Poustka; A Dietrich; G Langenstein; D Toniolo; S T Warren; H Lehrach
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

6.  Homologous genes for X-linked chondrodysplasia punctata in man and mouse.

Authors:  R Happle; R J Phillips; A Roessner; G Jünemann
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization.

Authors:  L W Fisher; A M Heegaard; U Vetter; W Vogel; W Just; J D Termine; M F Young
Journal:  J Biol Chem       Date:  1991-08-05       Impact factor: 5.157

8.  Deduced protein sequence of bone small proteoglycan I (biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species.

Authors:  L W Fisher; J D Termine; M F Young
Journal:  J Biol Chem       Date:  1989-03-15       Impact factor: 5.157

9.  Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.

Authors:  G E Herman; S J Walton
Journal:  Genomics       Date:  1990-07       Impact factor: 5.736

10.  X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.

Authors:  D C Kalter; D J Atherton; P T Clayton
Journal:  J Am Acad Dermatol       Date:  1989-08       Impact factor: 11.527
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  1 in total

1.  Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

Authors:  S Das; A Metzenberg; G S Pai; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025
  1 in total

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