Literature DB >> 11186941

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

S P Robertson, D J Shears, P Oei, R M Winter, P J Scambler, S Aftimos, R Savarirayan.   

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Year:  2000        PMID： 11186941      PMCID： PMC1734489          DOI： 10.1136/jmg.37.12.959

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


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  5 in total

1.  Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.

Authors:  Jill A Fahrner; Wan-Ying Lin; Ryan C Riddle; Leandros Boukas; Valerie B DeLeon; Sheetal Chopra; Susan E Lad; Teresa Romeo Luperchio; Kasper D Hansen; Hans T Bjornsson
Journal:  JCI Insight       Date:  2019-10-17

2.  Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Authors:  Nicholas J Neill; Blake C Ballif; Allen N Lamb; Sumit Parikh; J Britt Ravnan; Roger A Schultz; Beth S Torchia; Jill A Rosenfeld; Lisa G Shaffer
Journal:  Genome Res       Date:  2011-03-07       Impact factor: 9.043

3.  Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.

Authors:  Emma J Kenyon; Gayle K McEwen; Heather Callaway; Greg Elgar
Journal:  PLoS One       Date:  2011-06-24       Impact factor: 3.240

Review 4.  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

5.  Changes in skeletal dysplasia nosology.

Authors:  Maria Claudia Jurcă; Sânziana Iulia Jurcă; Filip Mirodot; Bogdan Bercea; Emilia Maria Severin; Marius Bembea; Alexandru Daniel Jurcă
Journal:  Rom J Morphol Embryol       Date:  2021 Jul-Sep       Impact factor: 0.833
  5 in total

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