Literature DB >> 1303191

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.

A Ballabio1, G Andria.   

Abstract

In this review we describe the various types of chromosomal abnormalities found in the distal short arm of the human X chromosome and the most common clinical features associated with each type, emphasizing the underlying molecular mechanisms. The study of these patients has significant implications for identifying the disease genes involved.

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Mesh：

Year:  1992        PMID： 1303191     DOI： 10.1093/hmg/1.4.221

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  26 in total

1.  B-A interchanges are an unlikely pathway for B chromosome integration into the standard genome.

Authors:  M Bakkali; J Cabrero; J P M Camacho
Journal:  Chromosome Res       Date:  2003       Impact factor: 5.239

2.  Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms.

Authors:  D Söderlund; F Vilchis; J P Méndez
Journal:  J Endocrinol Invest       Date:  2004-09       Impact factor: 4.256

3.  De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

Authors:  Tahir M Malla; Arshad A Pandith; Fayaz A Dar; Mahrukh H Zargar; Zafar A Shah
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

4.  Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.

Authors:  T A Angel; C J Faust; J C Gonzales; S Kenwrick; R A Lewis; G E Herman
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

5.  Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Authors:  S L Christian; W P Robinson; B Huang; A Mutirangura; M R Line; M Nakao; U Surti; A Chakravarti; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Kallmann syndrome.

Authors:  Catherine Dodé; Jean-Pierre Hardelin
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

7.  Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

Authors:  A Tar; J Sólyom; B Györvári; A Ion; L Telvi; S Barbaux; N Souleyreau; E Vilain; M Fellous; K McElreavey
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

8.  Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Authors:  May-Britt Harmsen; Silvia Azzarello-Burri; M Mar García González; Gabriele Gillessen-Kaesbach; Peter Meinecke; Dietmar Müller; Anita Rauch; Eva Rossier; Eva Seemanova; Christiane Spaich; Bernhard Steiner; Dagmar Wieczorek; Martin Zenker; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

9.  Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Authors:  E Mornet; A Bogyo; C Deluchat; B Simon-Bouy; M Mathieu; F Thépot; M C Grisard; E Leguern; J Boué; A Boué
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

10.  Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Authors:  Ravikanth Metlapally; Michel Michaelides; Anuradha Bulusu; Yi-Ju Li; Marianne Schwartz; Thomas Rosenberg; David M Hunt; Anthony T Moore; Stephan Züchner; Catherine Bowes Rickman; Terri L Young
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-20       Impact factor: 4.799
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