Literature DB >> 2714798

The gene for incontinentia pigmenti is assigned to Xq28.

A Sefiani1, L Abel, S Heuertz, D Sinnett, L Lavergne, D Labuda, M C Hors-Cayla.   

Abstract

A linkage study of eight families with incontinentia pigmenti (IP) has been performed, and linkage to site DXS52 has been established. We suggest that the IP locus lies in the Xq terminal region on the long arm of the X chromosome.

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Year:  1989        PMID: 2714798     DOI: 10.1016/0888-7543(89)90350-9

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  24 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.  X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors:  A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

3.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

4.  Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

Authors:  J Allanson; S Richter
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

5.  Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities.

Authors:  Snezana Minić; Gerd E K Novotny; Dusan Trpinac; Miljana Obradović
Journal:  Clin Oral Investig       Date:  2006-08-08       Impact factor: 3.573

Review 6.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 7.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

8.  A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome.

Authors:  A Vincent; C Kretz; I Oberlé; J L Mandel
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

9.  X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors:  E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

10.  Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Authors:  A Sefiani; R M'rad; L Simard; A Vincent; C Julier; L Holvoet-Vermaut; S Heuertz; N Dahl; J F Stalder; M O Peter
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

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