Literature DB >> 2994010

An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

W Middlesworth, C Bertelson, L M Kunkel.   

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Year:  1985        PMID： 2994010      PMCID： PMC321902          DOI： 10.1093/nar/13.15.5723

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  26 in total

1.  Genetic mapping of X linked ocular albinism: linkage analysis in British families.

Authors:  S J Charles; A T Moore; J R Yates
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

2.  Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Authors:  T Ogata; J R Hawkins; A Taylor; N Matsuo; J Hata; P N Goodfellow
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

3.  Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Authors:  A A Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; A J Pinckers; E Bakker; A Gal; G J van Ommen; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

4.  A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Authors:  I Lorda-Sanchez; M B Petersen; F Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; A Schinzel
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

5.  Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

Authors:  T Ogata; P Goodfellow; C Petit; M Aya; N Matsuo
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

6.  Molecular analysis of aberrations of Xp and Yq.

Authors:  S D Cheng; R Gasparini; U Müller
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

7.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

8.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

9.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

10.  Refinement of the locus for X-linked recessive chondrodysplasia punctata.

Authors:  K Muroya; T Ogata; G Rappold; A Klink; Y Nakahori; Y Fukushima; K Aizu; N Matsuo
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132
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