176 related articles for article (PubMed ID: 14513876)
21. 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]
22. Prevalence of SHOX haploinsufficiency among short statured children.
Marstrand-Joergensen MR; Jensen RB; Aksglaede L; Duno M; Juul A
Pediatr Res; 2017 Feb; 81(2):335-341. PubMed ID: 27814343
[TBL] [Abstract][Full Text] [Related]
23. GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency.
Maggio MC; Corsello G
Ital J Pediatr; 2019 Aug; 45(1):100. PubMed ID: 31412912
[TBL] [Abstract][Full Text] [Related]
24. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.
Adamson KA; Cross I; Batch JA; Rappold GA; Glass IA; Ball SG
Clin Endocrinol (Oxf); 2002 May; 56(5):671-5. PubMed ID: 12035792
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
Donze SH; Meijer CR; Kant SG; Zandwijken GR; van der Hout AH; van Spaendonk RM; van den Ouweland AM; Wit JM; Losekoot M; Oostdijk W
Eur J Endocrinol; 2015 Nov; 173(5):611-21. PubMed ID: 26264720
[TBL] [Abstract][Full Text] [Related]
27. SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.
Shapiro S; Klein GW; Klein ML; Wallach EJ; Fen Y; Godbold JH; Rapaport R
Horm Res Paediatr; 2015; 83(1):26-35. PubMed ID: 25659810
[TBL] [Abstract][Full Text] [Related]
28. SHOX intragenic microsatellite analysis in patients with short stature.
Ezquieta B; Cueva E; Oliver A; Gracia R
J Pediatr Endocrinol Metab; 2002 Feb; 15(2):139-48. PubMed ID: 11874178
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. SHOX in short stature syndromes.
Blaschke RJ; Rappold GA
Horm Res; 2001; 55 Suppl 1():21-3. PubMed ID: 11408757
[TBL] [Abstract][Full Text] [Related]
33. Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection of SHOX haploinsufficiency in Leri-Weill Syndrome.
Tan YM; Loke KY
Diagn Mol Pathol; 2005 Dec; 14(4):247-9. PubMed ID: 16319696
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Deletion of the SHOX gene in patients with short stature of unknown cause.
Morizio E; Stuppia L; Gatta V; Fantasia D; Guanciali Franchi P; Rinaldi MM; Scarano G; Concolino D; Giannotti A; Verrotti A; Chiarelli F; Calabrese G; Palka G
Am J Med Genet A; 2003 Jun; 119A(3):293-6. PubMed ID: 12784295
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
Schiller S; Spranger S; Schechinger B; Fukami M; Merker S; Drop SL; Tröger J; Knoblauch H; Kunze J; Seidel J; Rappold GA
Eur J Hum Genet; 2000 Jan; 8(1):54-62. PubMed ID: 10713888
[TBL] [Abstract][Full Text] [Related]
39. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
Ross JL; Kowal K; Quigley CA; Blum WF; Cutler GB; Crowe B; Hovanes K; Elder FF; Zinn AR
J Pediatr; 2005 Oct; 147(4):499-507. PubMed ID: 16227037
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
