Literature DB >> 1551675

Physical mapping of an Xq-proximal interstitial duplication in a male.

F Muscatelli1, J M Verna, N Philip, A Moncla, M G Mattei, J F Mattei, M Fontes.   

Abstract

A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysis allowed us to refine the physical map of the X cen-Xq13 region.

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Year:  1992        PMID： 1551675     DOI： 10.1007/bf02265299

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


  19 in total

1.  Insertional translocation into the X chromosome of a 46,XY male.

Authors:  R S Sparkes; W J Salter; R G Blaker; H M Muller
Journal:  Clin Genet       Date:  1977-08       Impact factor: 4.438

2.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

3.  Inherited tandem duplication dup(X) (q131-q212) in a male proband.

Authors:  L O Vejerslev; M Rix; B Jespersen
Journal:  Clin Genet       Date:  1985-03       Impact factor: 4.438

4.  Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

Authors:  F P Cremers; D J van de Pol; P J Diergaarde; B Wieringa; R L Nussbaum; M Schwartz; H H Ropers
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

5.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  Clinical and cytogenetic aspects of X-chromosome deletions.

Authors:  B Goldman; P E Polani; M G Daker; R R Angell
Journal:  Clin Genet       Date:  1982-01       Impact factor: 4.438

8.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

9.  Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Authors:  M Schwartz; H M Yang; E Niebuhr; T Rosenberg; D C Page
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

10.  Position of the human X inactivation center on Xq.

Authors:  E Therman; G E Sarto; C G Palmer; H Kallio; C Denniston
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132
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  4 in total

Review 1.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

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

2.  Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds.

Authors:  S M Gorski; K J Adams; P H Birch; B N Chodirker; C R Greenberg; P J Goodfellow
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132

3.  A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

Authors:  Elisabet Wentz; Mihailo Vujic; Ewa-Lotta Kärrstedt; Anna Erlandsson; Christopher Gillberg
Journal:  Eur Child Adolesc Psychiatry       Date:  2013-08-23       Impact factor: 4.785

Review 4.  Distal Xq duplication and functional Xq disomy.

Authors:  Damien Sanlaville; Caroline Schluth-Bolard; Catherine Turleau
Journal:  Orphanet J Rare Dis       Date:  2009-02-20       Impact factor: 4.123
  4 in total

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