321 related articles for article (PubMed ID: 15931687)
1. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
Schneider KU; Marchini A; Sabherwal N; Röth R; Niesler B; Marttila T; Blaschke RJ; Lawson M; Dumic M; Rappold G
Hum Mutat; 2005 Jul; 26(1):44-52. PubMed ID: 15931687
[TBL] [Abstract][Full Text] [Related]
2. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
Jorge AA; Souza SC; Nishi MY; Billerbeck AE; Libório DC; Kim CA; Arnhold IJ; Mendonca BB
Clin Endocrinol (Oxf); 2007 Jan; 66(1):130-5. PubMed ID: 17201812
[TBL] [Abstract][Full Text] [Related]
3. Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
Sabherwal N; Schneider KU; Blaschke RJ; Marchini A; Rappold G
J Cell Sci; 2004 Jun; 117(Pt 14):3041-8. PubMed ID: 15173321
[TBL] [Abstract][Full Text] [Related]
4. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
Jorge AA; Funari MF; Nishi MY; Mendonca BB
Pediatr Endocrinol Rev; 2010 Dec; 8(2):79-85. PubMed ID: 21150837
[TBL] [Abstract][Full Text] [Related]
5. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
Benito-Sanz S; del Blanco DG; Aza-Carmona M; Magano LF; Lapunzina P; Argente J; Campos-Barros A; Heath KE
Hum Mutat; 2006 Oct; 27(10):1062. PubMed ID: 16941489
[TBL] [Abstract][Full Text] [Related]
6. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Benito-Sanz S; Royo JL; Barroso E; Paumard-Hernández B; Barreda-Bonis AC; Liu P; Gracía R; Lupski JR; Campos-Barros Á; Gómez-Skarmeta JL; Heath KE
J Med Genet; 2012 Jul; 49(7):442-50. PubMed ID: 22791839
[TBL] [Abstract][Full Text] [Related]
7. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
Hirschfeldova K; Solc R; Baxova A; Zapletalova J; Kebrdlova V; Gaillyova R; Prasilova S; Soukalova J; Mihalova R; Lnenicka P; Florianova M; Stekrova J
Gene; 2012 Jan; 491(2):123-7. PubMed ID: 22020182
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
Benito-Sanz S; Barroso E; Heine-Suñer D; Hisado-Oliva A; Romanelli V; Rosell J; Aragones A; Caimari M; Argente J; Ross JL; Zinn AR; Gracia R; Lapunzina P; Campos-Barros A; Heath KE
J Clin Endocrinol Metab; 2011 Feb; 96(2):E404-12. PubMed ID: 21147883
[TBL] [Abstract][Full Text] [Related]
9. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Aza-Carmona M; Shears DJ; Yuste-Checa P; Barca-Tierno V; Hisado-Oliva A; Belinchón A; Benito-Sanz S; Rodríguez JI; Argente J; Campos-Barros A; Scambler PJ; Heath KE
Hum Mol Genet; 2011 Apr; 20(8):1547-59. PubMed ID: 21262861
[TBL] [Abstract][Full Text] [Related]
10. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Shears DJ; Vassal HJ; Goodman FR; Palmer RW; Reardon W; Superti-Furga A; Scambler PJ; Winter RM
Nat Genet; 1998 May; 19(1):70-3. PubMed ID: 9590293
[TBL] [Abstract][Full Text] [Related]
11. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
Binder G; Renz A; Martinez A; Keselman A; Hesse V; Riedl SW; Häusler G; Fricke-Otto S; Frisch H; Heinrich JJ; Ranke MB
J Clin Endocrinol Metab; 2004 Sep; 89(9):4403-8. PubMed ID: 15356038
[TBL] [Abstract][Full Text] [Related]
12. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA; Fukami M; Niesler B; Schiller S; Zumkeller W; Bettendorf M; Heinrich U; Vlachopapadoupoulou E; Reinehr T; Onigata K; Ogata T
J Clin Endocrinol Metab; 2002 Mar; 87(3):1402-6. PubMed ID: 11889216
[TBL] [Abstract][Full Text] [Related]
13. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
Rao E; Weiss B; Fukami M; Rump A; Niesler B; Mertz A; Muroya K; Binder G; Kirsch S; Winkelmann M; Nordsiek G; Heinrich U; Breuning MH; Ranke MB; Rosenthal A; Ogata T; Rappold GA
Nat Genet; 1997 May; 16(1):54-63. PubMed ID: 9140395
[TBL] [Abstract][Full Text] [Related]
14. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Hum Genet; 2001 Nov; 109(5):551-8. PubMed ID: 11735031
[TBL] [Abstract][Full Text] [Related]
15. The SHOX region and its mutations.
Capone L; Iughetti L; Sabatini S; Bacciaglia A; Forabosco A
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):11-4. PubMed ID: 21057179
[TBL] [Abstract][Full Text] [Related]
16. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
Shears DJ; Guillen-Navarro E; Sempere-Miralles M; Domingo-Jimenez R; Scambler PJ; Winter RM
Am J Med Genet; 2002 Jun; 110(2):153-7. PubMed ID: 12116253
[TBL] [Abstract][Full Text] [Related]
17. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A; Cormier-Daire V
Nat Genet; 1998 May; 19(1):67-9. PubMed ID: 9590292
[TBL] [Abstract][Full Text] [Related]
18. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.
Binder G; Ranke MB; Martin DD
J Clin Endocrinol Metab; 2003 Oct; 88(10):4891-6. PubMed ID: 14557470
[TBL] [Abstract][Full Text] [Related]
19. The human SHOX mutation database.
Niesler B; Fischer C; Rappold GA
Hum Mutat; 2002 Nov; 20(5):338-41. PubMed ID: 12402330
[TBL] [Abstract][Full Text] [Related]
20. Missense mutations of human homeoboxes: A review.
D'Elia AV; Tell G; Paron I; Pellizzari L; Lonigro R; Damante G
Hum Mutat; 2001 Nov; 18(5):361-74. PubMed ID: 11668629
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
