Literature DB >> 19636220

Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.

M Wasniewska, G Raiola, A Nicoletti, M C Galati, M F Messina, S Mirabelli, F De Luca.   

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Year:  2009        PMID： 19636220     DOI： 10.1007/BF03345793

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  5 in total

1.  SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Authors:  Alexander A L Jorge; Silvia C Souza; Miriam Y Nishi; Ana E Billerbeck; Débora C C Libório; Chong A Kim; Ivo J P Arnhold; Berenice B Mendonca
Journal:  Clin Endocrinol (Oxf)       Date:  2007-01       Impact factor: 3.478

2.  The novel human SHOX allelic variant database.

Authors:  Beate Niesler; Ralph Röth; Steffi Wilke; Frank Fujimura; Christine Fischer; Gudrun Rappold
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

Review 3.  Short stature and dysmorphology associated with defects in the SHOX gene.

Authors:  Sofia K Leka; Sofia Kitsiou-Tzeli; Ariadni Kalpini-Mavrou; Emmanuel Kanavakis
Journal:  Hormones (Athens)       Date:  2006 Apr-Jun       Impact factor: 2.885

4.  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

5.  SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

Authors:  Gerhard Binder; Alexandra Renz; Alicia Martinez; Ana Keselman; Volker Hesse; Stefan W Riedl; Gabriele Häusler; Susanne Fricke-Otto; Herwig Frisch; Juan Jorge Heinrich; Michael B Ranke
Journal:  J Clin Endocrinol Metab       Date:  2004-09       Impact factor: 5.958
  5 in total
  1 in total

1.  Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.

Authors:  Dongdong Wang; Xin Pan; Xiaoli Wang
Journal:  J Diabetes Investig       Date:  2020-08-06       Impact factor: 4.232
  1 in total

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