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Items: 1 to 20 of 143

1.

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
2.

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M.

J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28.

PMID:
19864454
3.

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. doi: 10.1136/jmedgenet-2011-100678.

PMID:
22791839
4.

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).

Leal AC, Montenegro LR, Saito RF, Ribeiro TC, Coutinho DC, Mendonca BB, Arnhold IJ, Jorge AA.

Clin Endocrinol (Oxf). 2013 Apr;78(4):558-63. doi: 10.1111/cen.12048.

PMID:
22998174
5.

Diagnostics of SHOX gene rearrangement in 46,XX women with idiopathic short stature.

Mitka M, Bednarek M, Kałużewski B.

Endokrynol Pol. 2016;67(4):397-402. doi: 10.5603/EP.a2016.0050. Epub 2016 Jul 8.

6.

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. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
7.

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM.

J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18.

PMID:
18349070
8.

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.

Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Müller E, Kratzsch J, Körner A, Odeh R, Kiess W, Pfäffle R.

J Clin Endocrinol Metab. 2010 Mar;95(3):1137-42. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26.

PMID:
20103656
9.

Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study).

de Graaff LC, Clark AJ, Tauber M, Ranke MB, Johnston LB, Caliebe J, Molinas C, Amin N, van Duijn C, Wollmann H, Wallaschofski H, Savage MO, Hokken-Koelega AC.

Horm Res Paediatr. 2013;80(6):466-76. doi: 10.1159/000355409. Epub 2013 Nov 23.

PMID:
24280783
10.

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
11.

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G.

J Med Genet. 2009 Dec;46(12):834-9. doi: 10.1136/jmg.2009.067785. Epub 2009 Jul 2.

12.

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J.

Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14.

PMID:
22020182
13.

[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].

Leal Ade C, Canton AP, Montenegro LR, Coutinho DC, Arnhold IJ, Jorge AA.

Arq Bras Endocrinol Metabol. 2011 Nov;55(8):541-9. Review. Portuguese.

14.

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Hirschfeldova K, Florianova M, Kebrdlova V, Urbanova M, Stekrova J.

J Hum Genet. 2017 Feb;62(2):253-257. doi: 10.1038/jhg.2016.117. Epub 2016 Oct 6.

PMID:
27708272
15.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE.

Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.

16.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfäffle R, Klammt J.

Horm Res Paediatr. 2013;80(6):431-42. doi: 10.1159/000355410. Epub 2013 Nov 26.

PMID:
24296753
17.

Polymorphisms in the IGF1 and IGF1R genes and children born small for gestational age: results of large population studies.

Ester WA, Hokken-Koelega AC.

Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):415-31. doi: 10.1016/j.beem.2008.03.001. Review.

PMID:
18538283
18.

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
19.

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Labarta JI, Barrio E, Audí L, Fernández-Cancio M, Andaluz P, de Arriba A, Puga B, Calvo MT, Mayayo E, Carrascosa A, Ferrández-Longás A.

Clin Endocrinol (Oxf). 2013 Feb;78(2):255-62. doi: 10.1111/j.1365-2265.2012.04481.x.

PMID:
22738321
20.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG.

Eur J Endocrinol. 2016 Apr;174(4):R145-73. doi: 10.1530/EJE-15-0937. Epub 2015 Nov 17. Review.

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