Literature DB >> 12566529

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

L Stuppia, G Calabrese, V Gatta, S Pintor, E Morizio, D Fantasia, P Guanciali Franchi, M M Rinaldi, G Scarano, D Concolino, A Giannotti, F Petreschi, M T Anzellotti, M Pomilio, F Chiarelli, S Tumini, G Palka.   

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Year:  2003        PMID： 12566529      PMCID： PMC1735371          DOI： 10.1136/jmg.40.2.e11

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Authors:  Sara Benito-Sanz; N Simon Thomas; Céline Huber; Celine Huber; Darya Gorbenko del Blanco; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; John A Crolla; Vivienne Maloney; Gudrun Rappold; Jesús Argente; Jesus Argente; Angel Campos-Barros; Valérie Cormier-Daire; Valerie Cormier-Daire; Karen E Heath
Journal:  Am J Hum Genet       Date:  2005-08-15       Impact factor: 11.025

2.  Prevalence of SHOX haploinsufficiency among short statured children.

Authors:  Maja Rou Marstrand-Joergensen; Rikke Beck Jensen; Lise Aksglaede; Morten Duno; Anders Juul
Journal:  Pediatr Res       Date:  2016-11-04       Impact factor: 3.756

3.  Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Authors:  Valentina Gatta; Ivana Antonucci; Elisena Morizio; Chiara Palka; Rita Fischetto; Vahe Mokini; Stefano Tumini; Giuseppe Calabrese; Liborio Stuppia
Journal:  J Hum Genet       Date:  2006-11-08       Impact factor: 3.172

4.  Editorial: Novel Insights Into the Genetics of Growth Disorders.

Authors:  Mara Giordano; Liborio Stuppia
Journal:  Front Genet       Date:  2022-06-08       Impact factor: 4.772

5.  Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

Authors:  Renata C Scalco; Suzana S J Melo; Patricia N Pugliese-Pires; Mariana F A Funari; Mirian Y Nishi; Ivo J P Arnhold; Berenice B Mendonca; Alexander A L Jorge
Journal:  J Clin Endocrinol Metab       Date:  2009-11-19       Impact factor: 5.958

6.  Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.

Authors:  Matteo Di Giovannantonio; Benjamin Hl Harris; Ping Zhang; Isaac Kitchen-Smith; Lingyun Xiong; Natasha Sahgal; Giovanni Stracquadanio; Marsha Wallace; Sarah Blagden; Simon Lord; David Harris; Adrian H L Harris; Francesca M Buffa; Gareth L Bond
Journal:  J Med Genet       Date:  2020-06-26       Impact factor: 6.318

Review 7.  Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

Authors:  Liborio Stuppia; Ivana Antonucci; Giandomenico Palka; Valentina Gatta
Journal:  Int J Mol Sci       Date:  2012-03-08       Impact factor: 6.208

8.  Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.

Authors:  Tinka Hovnik; Darja Šmigoc Schweiger; Primož Kotnik; Jernej Kovač; Tadej Battelino; Katarina Trebušak Podkrajšek
Journal:  Zdr Varst       Date:  2015-03-13

Review 9.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

10.  Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Authors:  Valentina Gatta; Chiara Palka; Valentina Chiavaroli; Sara Franchi; Giovanni Cannataro; Massimo Savastano; Antonio Raffaele Cotroneo; Francesco Chiarelli; Angelika Mohn; Liborio Stuppia
Journal:  BMC Med Genet       Date:  2014-07-23       Impact factor: 2.103
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