Literature DB >> 17935511

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

R Bertorelli, L Capone, F Ambrosetti, L Garavelli, L Varriale, V Mazza, I Stanghellini, A Percesepe, A Forabosco.   

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Year:  2007        PMID： 17935511     DOI： 10.1111/j.1399-0004.2007.00875.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Authors:  Sara Benito-Sanz; Miriam Aza-Carmona; Amaya Rodríguez-Estevez; Ixaso Rica-Etxebarria; Ricardo Gracia; Angel Campos-Barros; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

Review 2.  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.  Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Authors:  Verónica Barca-Tierno; Miriam Aza-Carmona; Eva Barroso; Damia Heine-Suner; Dimitar Azmanov; Jordi Rosell; Begoña Ezquieta; Lucia Sentchordi Montané; Teresa Vendrell; Jaime Cruz; Fernando Santos; José Ignacio Rodríguez; Jesús Pozo; Jesús Argente; Luba Kalaydjieva; Ricardo Gracía; Angel Campos-Barros; Sara Benito-Sanz; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

4.  Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.

Authors:  Deepak Babu; Silvia Vannelli; Antonella Fanelli; Simona Mellone; Ave Maria Baffico; Lucia Corrado; Wael Al Essa; Anna Grandone; Simonetta Bellone; Alice Monzani; Giulia Vinci; Luisa De Sanctis; Liborio Stuppia; Flavia Prodam; Mara Giordano
Journal:  Eur J Hum Genet       Date:  2020-07-09       Impact factor: 4.246

5.  NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Authors:  Miriam Aza-Carmona; Veronica Barca-Tierno; Alfonso Hisado-Oliva; Alberta Belinchón; Darya Gorbenko-del Blanco; Jose Ignacio Rodriguez; Sara Benito-Sanz; Angel Campos-Barros; Karen E Heath
Journal:  PLoS One       Date:  2014-01-08       Impact factor: 3.240

6.  Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.

Authors:  Isabella Skuplik; Sara Benito-Sanz; Jessica M Rosin; Brent E Bobick; Karen E Heath; John Cobb
Journal:  Sci Rep       Date:  2018-09-24       Impact factor: 4.379
  6 in total

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