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Items: 1 to 20 of 95

1.

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. doi: 10.1159/000354989. Epub 2013 Sep 18.

PMID:
24051572
2.
3.

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.

PMID:
11889216
4.

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.

PMID:
15356038
5.

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.

PMID:
10634394
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.

PMID:
23304810
7.

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. doi: 10.1530/EJE-15-0451. Epub 2015 Aug 11.

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.

PMID:
17201812
9.

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G; SHOX Study Group.

J Clin Endocrinol Metab. 2007 Jan;92(1):219-28. Epub 2006 Oct 17.

PMID:
17047016
10.

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. doi: 10.1159/000197874. Epub 2009 Feb 3.

PMID:
19188742
11.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB Jr.

J Clin Endocrinol Metab. 2013 Aug;98(8):E1383-92. doi: 10.1210/jc.2013-1222. Epub 2013 May 29. Erratum in: J Clin Endocrinol Metab. 2013 Dec;98(12):4992.

PMID:
23720786
12.

IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).

Caliebe J, Broekman S, Boogaard M, Bosch CA, Ruivenkamp CA, Oostdijk W, Kant SG, Binder G, Ranke MB, Wit JM, Losekoot M.

Horm Res Paediatr. 2012;77(4):250-60. doi: 10.1159/000338341. Epub 2012 May 9.

PMID:
22572840
13.

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.

Soucek O, Zapletalova J, Zemkova D, Snajderova M, Novotna D, Hirschfeldova K, Plasilova I, Kolouskova S, Rocek M, Hlavka Z, Lebl J, Sumnik Z.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1241-7. doi: 10.1210/jc.2013-1113. Epub 2013 May 10.

PMID:
23666967
14.

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. doi: 10.1210/jc.2011-3460. Epub 2012 Apr 19.

PMID:
22518848
15.

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. Epub 2006 Dec 20.

16.
17.

Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.

Iughetti L, Vannelli S, Street ME, Pirazzoli P, Bertelloni S, Radetti G, Capone L, Stasiowska B, Mazzanti L, Gastaldi R, Maggio MC, Predieri B.

Horm Res Paediatr. 2012;78(5-6):279-87. doi: 10.1159/000345354. Epub 2012 Nov 28.

PMID:
23208451
18.

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. doi: 10.1159/000365507. Epub 2015 Jan 31.

PMID:
25659810
19.

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.

Malaquias AC, Scalco RC, Fontenele EG, Costalonga EF, Baldin AD, Braz AF, Funari MF, Nishi MY, Guerra-Junior G, Mendonca BB, Arnhold IJ, Jorge AA.

Horm Res Paediatr. 2013;80(6):449-56. doi: 10.1159/000355411. Epub 2013 Nov 26.

PMID:
24296787
20.

Phenotypes Associated with SHOX Deficiency.

Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.

J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80.

PMID:
11739418

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