Literature DB >> 25572239

Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.

Libin Mei1, Yanru Huang, Qian Pan, Haoxian Li, Desheng Liang, Lingqian Wu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25572239     DOI： 10.1007/s12041-014-0419-3

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


× No keyword cloud information.
  17 in total

1.  Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

Authors:  Rudiger J Blaschke; Christine Töpfer; Antonio Marchini; Herbert Steinbeisser; Johannes W G Janssen; Gudrun A Rappold
Journal:  J Biol Chem       Date:  2003-09-05       Impact factor: 5.157

2.  DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.

Authors:  L O LANGER
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1965-09

3.  PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

Authors:  J W Ellison; Z Wardak; M F Young; P Gehron Robey; M Laig-Webster; W Chiong
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

4.  Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Authors:  D J Shears; H J Vassal; F R Goodman; R W Palmer; W Reardon; A Superti-Furga; P J Scambler; R M Winter
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

5.  Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Authors:  E Rao; B Weiss; M Fukami; A Rump; B Niesler; A Mertz; K Muroya; G Binder; S Kirsch; M Winkelmann; G Nordsiek; U Heinrich; M H Breuning; M B Ranke; A Rosenthal; T Ogata; G A Rappold
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

6.  Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

Authors:  J R Lichtenstein; M Sundaram; R Burdge
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

7.  Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Authors:  G Grigelioniene; J Schoumans; L Neumeyer; A Ivarsson; O Eklöf; O Enkvist; P Tordai; I Fosdal; A G Myhre; O Westphal; N O Nilsson; M Elfving; I Ellis; B M Anderlid; I Fransson; I Tapia-Paez; M Nordenskjöld; L Hagenäs; J P Dumanski
Journal:  Hum Genet       Date:  2001-10-19       Impact factor: 4.132

8.  Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Authors:  Patrick Rump; Jan D H Jongbloed; Birgit Sikkema-Raddatz; Stefan Mundlos; Eva Klopocki; Rob B van der Luijt
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

9.  Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

Authors:  G Grigelioniene; O Eklöf; S A Ivarsson; O Westphal; L Neumeyer; D Kedra; J Dumanski; L Hagenäs
Journal:  Hum Genet       Date:  2000-08       Impact factor: 4.132

10.  Otto W. Madelung and the recognition of Madelung's deformity.

Authors:  Anjali S Arora; Kevin C Chung
Journal:  J Hand Surg Am       Date:  2006-02       Impact factor: 2.230
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.