Literature DB >> 12362035

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.

S F Flanagan, C F J Munns, M Hayes, B Williams, M Berry, D Vickers, E Rao, G A Rappold, J A Batch, V J Hyland, I A Glass.   

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Year:  2002        PMID： 12362035      PMCID： PMC1734979          DOI： 10.1136/jmg.39.10.758

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


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  18 in total

1.  Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

Authors:  Maki Fukami; Fumiko Kato; Toshihiro Tajima; Susumu Yokoya; Tsutomu Ogata
Journal:  Am J Hum Genet       Date:  2006-01       Impact factor: 11.025

2.  Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature.

Authors:  Y-M Tan; K-Y Loke
Journal:  J Clin Pathol       Date:  2006-07       Impact factor: 3.411

3.  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

4.  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

5.  Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Authors:  Gudrun Rappold; Werner F Blum; Elena P Shavrikova; Brenda J Crowe; Ralph Roeth; Charmian A Quigley; Judith L Ross; Beate Niesler
Journal:  J Med Genet       Date:  2006-12-20       Impact factor: 6.318

6.  Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Authors:  Katja U Schneider; Nitin Sabherwal; Karin Jantz; Ralph Röth; Nadja Muncke; Werner F Blum; Gordon B Cutler; Gudrun Rappold
Journal:  Am J Hum Genet       Date:  2005-06-01       Impact factor: 11.025

7.  High incidence of SHOX anomalies in individuals with short stature.

Authors:  C Huber; M Rosilio; A Munnich; V Cormier-Daire
Journal:  J Med Genet       Date:  2006-04-05       Impact factor: 6.318

8.  A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.

Authors:  Jennifer Danzig; Michael A Levine
Journal:  J Pediatr Endocrinol Metab       Date:  2012       Impact factor: 1.634

Review 9.  SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

Authors:  Maki Fukami; Atsuhito Seki; Tsutomu Ogata
Journal:  Mol Syndromol       Date:  2016-03-15

10.  Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Authors:  J Chen; G Wildhardt; Z Zhong; R Röth; B Weiss; D Steinberger; J Decker; W F Blum; G Rappold
Journal:  J Med Genet       Date:  2009-07-02       Impact factor: 6.318
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