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 *

286 related articles for article (PubMed ID: 12510982)

  • 1. SHOX haploinsufficiency and its modifying factors.
    Ogata T
    J Pediatr Endocrinol Metab; 2002 Dec; 15 Suppl 5():1289-94. PubMed ID: 12510982
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
    Ogata T; Muroya K; Sasaki G; Nishimura G; Kitoh H; Hattori T
    J Clin Endocrinol Metab; 2002 Mar; 87(3):1390-4. PubMed ID: 11889214
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
    Kosho T; Muroya K; Nagai T; Fujimoto M; Yokoya S; Sakamoto H; Hirano T; Terasaki H; Ohashi H; Nishimura G; Sato S; Matsuo N; Ogata T
    J Clin Endocrinol Metab; 1999 Dec; 84(12):4613-21. PubMed ID: 10599728
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
    Clement-Jones M; Schiller S; Rao E; Blaschke RJ; Zuniga A; Zeller R; Robson SC; Binder G; Glass I; Strachan T; Lindsay S; Rappold GA
    Hum Mol Genet; 2000 Mar; 9(5):695-702. PubMed ID: 10749976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
    Kant SG; Drop SL
    Ned Tijdschr Geneeskd; 2001 Jul; 145(30):1456-9. PubMed ID: 11503314
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The role of the SHOX gene in the pathophysiology of Turner syndrome.
    Oliveira CS; Alves C
    Endocrinol Nutr; 2011 Oct; 58(8):433-42. PubMed ID: 21925981
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.
    Mutesa L; Vanbellinghen JF; Hellin AC; Segers K; Jamar M; Pierquin G; Bours V
    Genet Couns; 2009; 20(1):9-17. PubMed ID: 19400538
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
    Evers C; Heidemann PH; Dunstheimer D; Schulze E; Haag C; Janssen JW; Fischer C; Jauch A; Moog U
    Clin Genet; 2011 May; 79(5):489-94. PubMed ID: 20681991
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SHOX: growth, Léri-Weill and Turner syndromes.
    Blaschke RJ; Rappold GA
    Trends Endocrinol Metab; 2000 Aug; 11(6):227-30. PubMed ID: 10878753
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
    Karaman B; Wollnik B; Ermiş H; Yüksel-Apak M; Başaran S
    Prenat Diagn; 2003 Apr; 23(4):336-9. PubMed ID: 12673642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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]
    of 15.