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Results: 10

1.

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

Bertorelli R, Capone L, Ambrosetti F, Garavelli L, Varriale L, Mazza V, Stanghellini I, Percesepe A, Forabosco A.

Clin Genet. 2007 Nov;72(5):490-1. No abstract available.

PMID:
17935511
[PubMed - indexed for MEDLINE]
2.
3.

Short stature and dysmorphology associated with defects in the SHOX gene.

Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.

Hormones (Athens). 2006 Apr-Jun;5(2):107-18. Review.

PMID:
16807223
[PubMed - indexed for MEDLINE]
Free Article
4.

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. Review. Portuguese.

PMID:
18797583
[PubMed - indexed for MEDLINE]
Free Article
5.

SHOX at a glance: from gene to protein.

Marchini A, Rappold G, Schneider KU.

Arch Physiol Biochem. 2007 Jun;113(3):116-23. Review.

PMID:
17922307
[PubMed - indexed for MEDLINE]
6.

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

AbrĂ£o MG, Leite MV, Carvalho LR, Billerbeck AE, Nishi MY, Barbosa AS, Martin RM, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2006 Sep;65(3):294-300. Review.

PMID:
16918947
[PubMed - indexed for MEDLINE]
7.

[Growth hormone treatment inTurner syndrome: data and reflections].

Guedes AD, Bianco B, Callou EQ, Gomes AL, Lipay MV, Verreschi IT.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):757-64. Review. Portuguese.

PMID:
18797582
[PubMed - indexed for MEDLINE]
Free Article
8.

Imaging of SHOX-associated anomalies.

Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R.

Semin Musculoskelet Radiol. 2009 Sep;13(3):236-54. doi: 10.1055/s-0029-1237691. Epub 2009 Sep 1. Review.

PMID:
19724992
[PubMed - indexed for MEDLINE]
9.

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E, Trisnowati N, Su J, Dang N, Klingberg S, Marr P, Melbourne W, Tran K, Chow CW, Orchard D, Varigos G, Murrell DF.

Clin Exp Dermatol. 2008 Nov;33(6):689-97. doi: 10.1111/j.1365-2230.2008.02858.x. Epub 2008 Aug 16. Review.

PMID:
18713255
[PubMed - indexed for MEDLINE]
10.

[Dyschondrosteosis].

Okamoto N.

Ryoikibetsu Shokogun Shirizu. 2001;(33):588-9. Review. Japanese. No abstract available.

PMID:
11462583
[PubMed - indexed for MEDLINE]

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