Literature DB >> 25189248

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

Roman Solc1, Katerina Hirschfeldova, Vera Kebrdlova, Alice Baxova.   

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Year:  2014        PMID： 25189248     DOI： 10.1007/s12041-014-0375-y

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  11 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

2.  SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

Authors:  Tsutomu Ogata; Koji Muroya; Goro Sasaki; Gen Nishimura; Hiroshi Kitoh; Tadashi Hattori
Journal:  J Clin Endocrinol Metab       Date:  2002-03       Impact factor: 5.958

3.  Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.

Authors:  Celia A May; Angela C Shone; Luba Kalaydjieva; Antti Sajantila; Alec J Jeffreys
Journal:  Nat Genet       Date:  2002-06-24       Impact factor: 38.330

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

Authors:  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
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

5.  PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Authors:  Sara Benito-Sanz; Darya Gorbenko del Blanco; Miriam Aza-Carmona; Luis F Magano; Pablo Lapunzina; Jesús Argente; Angel Campos-Barros; Karen E Heath
Journal:  Hum Mutat       Date:  2006-10       Impact factor: 4.878

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

Authors:  S Benito-Sanz; A Aragones; R Gracia; A Campos-Barros; K E Heath
Journal:  Am J Med Genet A       Date:  2011-03-17       Impact factor: 2.802

7.  Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Authors:  Gudrun A Rappold; Maki Fukami; Beate Niesler; Simone Schiller; Walter Zumkeller; Markus Bettendorf; Udo Heinrich; Elpis Vlachopapadoupoulou; Thomas Reinehr; Kazumichi Onigata; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2002-03       Impact factor: 5.958

8.  SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

Authors:  K Hirschfeldova; R Solc; A Baxova; J Zapletalova; V Kebrdlova; R Gaillyova; S Prasilova; J Soukalova; R Mihalova; P Lnenicka; M Florianova; J Stekrova
Journal:  Gene       Date:  2011-10-14       Impact factor: 3.688

9.  Arlequin (version 3.0): an integrated software package for population genetics data analysis.

Authors:  Laurent Excoffier; Guillaume Laval; Stefan Schneider
Journal:  Evol Bioinform Online       Date:  2007-02-23       Impact factor: 1.625

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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  2 in total

1.  Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Authors:  Katerina Hirschfeldova; Martina Florianova; Vera Kebrdlova; Marketa Urbanova; Jitka Stekrova
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

2.  Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.

Authors:  Abdulla A Alharthi; Ehab I El-Hallous; Iman M Talaat; Hamed A Alghamdi; Matar I Almalki; Ahmed Gaber
Journal:  Korean J Pediatr       Date:  2017-10-20
  2 in total

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