These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

478 related articles for article (PubMed ID: 14557470)

  • 1. 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]  

  • 2. 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]  

  • 3. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
    Binder G; Schwarze CP; Ranke MB
    J Clin Endocrinol Metab; 2000 Jan; 85(1):245-9. PubMed ID: 10634394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].
    Dávid A; Butz H; Halász Z; Török D; Nyirő G; Muzsnai Á; Csákváry V; Luczay A; Sallai Á; Hosszú É; Felszeghy E; Tar A; Szántó Z; Fekete GL; Kun I; Patócs A; Bertalan R
    Orv Hetil; 2017 Aug; 158(34):1351-1356. PubMed ID: 28823207
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).
    De Sanctis V; Tosetto I; Iughetti L; Antoniazzi F; Clementi M; Toffolutti T; Facchin P; Monti E; Pisanello L; Tonini G; Greggio NA
    Pediatr Endocrinol Rev; 2012 Aug; 9(4):727-33. PubMed ID: 23304810
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 11. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
    Rappold G; Blum WF; Shavrikova EP; Crowe BJ; Roeth R; Quigley CA; Ross JL; Niesler B
    J Med Genet; 2007 May; 44(5):306-13. PubMed ID: 17182655
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.
    Fukami M; Matsuo N; Hasegawa T; Sato S; Ogata T
    Eur J Endocrinol; 2003 Oct; 149(4):337-41. PubMed ID: 14514349
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
    Binder G
    Horm Res Paediatr; 2011 Feb; 75(2):81-9. PubMed ID: 21325865
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Short stature before puberty: which children should be screened for SHOX deficiency?
    Wolters B; Lass N; Wunsch R; Böckmann B; Austrup F; Reinehr T
    Horm Res Paediatr; 2013; 80(4):273-80. PubMed ID: 24051572
    [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. Genotypes and phenotypes of children with SHOX deficiency in France.
    Rosilio M; Huber-Lequesne C; Sapin H; Carel JC; Blum WF; Cormier-Daire V
    J Clin Endocrinol Metab; 2012 Jul; 97(7):E1257-65. PubMed ID: 22518848
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.
    Salmon-Musial AS; Rosilio M; David M; Huber C; Pichot E; Cormier-Daire V; Nicolino M
    Horm Res Paediatr; 2011; 76(3):178-85. PubMed ID: 21912078
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial growth and skeletal features associated with SHOX haploinsufficiency.
    Munns CF; Glass IA; Flanagan S; Hayes M; Williams B; Berry M; Vickers D; O'Rourke P; Rao E; Rappold GA; Hyland VJ; Batch JA
    J Pediatr Endocrinol Metab; 2003 Sep; 16(7):987-96. PubMed ID: 14513875
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.