Literature DB >> 1542599

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22.

D F Barker1, J Cleverly, P R Fain.   

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Year:  1992        PMID： 1542599      PMCID： PMC312063          DOI： 10.1093/nar/20.4.929-a

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


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  1 in total

1.  A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Authors:  M Litt; J A Luty
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025
  1 in total
  6 in total

1.  A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Authors:  D F Barker; C J Pruchno; X Jiang; C L Atkin; E M Stone; J C Denison; P R Fain; M C Gregory
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Authors:  P Saugier-Veber; V Abadie; A Moncla; M Mathieu; C Piussan; C Turleau; J F Mattei; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

3.  Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.

Authors:  Kesha Rana; Yan Yan Wang; Harley Powell; Colin Jones; David McCredie; Mark Buzza; Madhara Udawela; Judy Savige
Journal:  Pediatr Nephrol       Date:  2005-10-19       Impact factor: 3.714

4.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

5.  Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.

Authors:  F A Hol; M P Geurds; O Jensson; B C Hamel; G E Moore; R Newton; E C Mariman
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

6.  Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Authors:  J J Jonsson; A Renieri; P G Gallagher; C E Kashtan; E M Cherniske; M Bruttini; M Piccini; F Vitelli; A Ballabio; B R Pober
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318
  6 in total

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