79 related articles for article (PubMed ID: 21057185)
1. SHOX mutation as a rare disease: molecular diagnosis and growth hormone treatment supported by the Italian public health system.
Lala R; Matarazzo P
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):39-43. PubMed ID: 21057185
[TBL] [Abstract][Full Text] [Related]
2. Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
Iughetti L; Madeo S; Predieri B
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):34-8. PubMed ID: 21057184
[TBL] [Abstract][Full Text] [Related]
3. The SHOX gene: a new indication for GH treatment.
Cicognani A; Pirazzoli P; Nicoletti A; Baronio F; Conti V; Bonetti S
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):15-8. PubMed ID: 21057180
[TBL] [Abstract][Full Text] [Related]
4. Epidemiology of SHOX deficiency.
Nicolosi A; Caruso-Nicoletti M
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):7-10. PubMed ID: 21057178
[TBL] [Abstract][Full Text] [Related]
5. Different approaches in the molecular analysis of the SHOX gene dysfunctions.
Stuppia L; Gatta V; Antonucci I; Giuliani R; Palka G
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):30-3. PubMed ID: 21057183
[TBL] [Abstract][Full Text] [Related]
6. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
Blum WF; Cao D; Hesse V; Fricke-Otto S; Ross JL; Jones C; Quigley CA; Binder G
Horm Res; 2009; 71(3):167-72. PubMed ID: 19188742
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Auxological and anthropometric evaluation in skeletal dysplasias.
Mazzanti L; Matteucci C; Scarano E; Tamburrino F; Ragni MC; Cicognani A
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):19-25. PubMed ID: 21057181
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. New insights in the diagnosis and treatment of SHOX-deficiency. The First National Workshop, Florence, January 15-16, 2010. Foreword.
Loche S; Vottero A
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):1-2. PubMed ID: 21057175
[No Abstract] [Full Text] [Related]
12. A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
Alvarez-Mora MI; Madrigal I; Rodriguez-Revenga L; Mur A; Calvo D; Pascual I Bardají J; Milà M
J Clin Pathol; 2012 Sep; 65(9):844-6. PubMed ID: 22461651
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. FGFR3 is a target of the homeobox transcription factor SHOX in limb development.
Decker E; Durand C; Bender S; Rödelsperger C; Glaser A; Hecht J; Schneider KU; Rappold G
Hum Mol Genet; 2011 Apr; 20(8):1524-35. PubMed ID: 21273290
[TBL] [Abstract][Full Text] [Related]
15. New roles of SHOX as regulator of target genes.
Rappold GA; Durand C; Decker E; Marchini A; Schneider KU
Pediatr Endocrinol Rev; 2012 May; 9 Suppl 2():733-8. PubMed ID: 22946287
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
Shanske AL; Puri M; Marshall B; Saenger P
Horm Res; 2007; 67(2):61-6. PubMed ID: 17028440
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Complete SHOX deficiency causes Langer mesomelic dysplasia.
Zinn AR; Wei F; Zhang L; Elder FF; Scott CI; Marttila P; Ross JL
Am J Med Genet; 2002 Jun; 110(2):158-63. PubMed ID: 12116254
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]