Literature DB >> 21416591

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX.

S Benito-Sanz, A Aragones, R Gracia, A Campos-Barros, K E Heath.   

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Year:  2011        PMID： 21416591     DOI： 10.1002/ajmg.a.33872

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.

Authors:  Fani-Marlen Roumelioti; Eirini Louizou; Spyridon Karras; Rozalia Neroutsou; Voula Velissariou; Sarantis Gagos
Journal:  J Assist Reprod Genet       Date:  2019-01-24       Impact factor: 3.412

2.  Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.

Authors:  Roman Solc; Katerina Hirschfeldova; Vera Kebrdlova; Alice Baxova
Journal:  J Genet       Date:  2014-08       Impact factor: 1.166

Review 3.  Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Authors:  Sara Benito-Sanz; Alberta Belinchon-Martínez; Miriam Aza-Carmona; Carolina de la Torre; Celine Huber; Isabel González-Casado; Judith L Ross; N Simon Thomas; Andrew R Zinn; Valerie Cormier-Daire; Karen E Heath
Journal:  J Hum Genet       Date:  2016-09-08       Impact factor: 3.172
  3 in total

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