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Results: 1 to 20 of 152

Similar articles for PubMed (Select 21912078)

1.

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. doi: 10.1159/000329359. Epub 2011 Sep 10.

PMID:
21912078
2.

Heterozygous NPR2 mutations cause disproportionate short stature, similar to Léri-Weill dyschondrosteosis.

Hisado-Oliva A, Garre-Vázquez AI, Santaolalla-Caballero F, Belinchón A, Barreda-Bonis AC, Vasques GA, Ramirez J, Luzuriaga C, Carlone G, González-Casado I, Benito-Sanz S, Jorge AA, Campos-Barros A, Heath KE.

J Clin Endocrinol Metab. 2015 Jun 15:jc20151612. [Epub ahead of print]

PMID:
26075495
3.

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group.

J Hum Genet. 2015 Jun 4. doi: 10.1038/jhg.2015.53. [Epub ahead of print]

PMID:
26040210
4.

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.

Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF.

Horm Res Paediatr. 2015 May 6. [Epub ahead of print]

PMID:
25967354
5.

Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.

Mei L, Huang Y, Pan Q, Li H, Liang D, Wu L.

J Genet. 2014 Dec;93(3):809-12. No abstract available.

6.

In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish.

Sawada R, Kamei H, Hakuno F, Takahashi S, Shimizu T.

Dev Dyn. 2015 Feb;244(2):146-56. doi: 10.1002/dvdy.24239. Epub 2014 Dec 30.

PMID:
25483930
7.

Radiological and clinical analysis of Madelung's deformity in children.

Huguet S, Leheup B, Aslan M, Muller F, Dautel G, Journeau P; French Society of Pediatric Orthopaedics (SOFOP).

Orthop Traumatol Surg Res. 2014 Oct;100(6 Suppl):S349-52. doi: 10.1016/j.otsr.2014.06.007. Epub 2014 Sep 10.

PMID:
25217032
8.

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.

Bunyan DJ, Taylor EJ, Maloney VK, Blyth M.

Am J Med Genet A. 2014 Nov;164A(11):2764-8. doi: 10.1002/ajmg.a.36724. Epub 2014 Aug 13.

PMID:
25125269
9.

Skeletal Deformity Associated with SHOX Deficiency.

Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M.

Clin Pediatr Endocrinol. 2014 Jul;23(3):65-72. doi: 10.1297/cpe.23.65. Epub 2014 Aug 6. Review.

10.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Gatta V, Palka C, Chiavaroli V, Franchi S, Cannataro G, Savastano M, Cotroneo AR, Chiarelli F, Mohn A, Stuppia L.

BMC Med Genet. 2014 Jul 23;15:87. doi: 10.1186/1471-2350-15-87.

11.

Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency.

Miyoshi Y, Miki K, Etani Y, Mushiake S, Shimizu N, Ozono K.

Clin Pediatr Endocrinol. 2005;14(1):11-6. doi: 10.1297/cpe.14.11. Epub 2005 Feb 14.

12.

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.

Sandoval GT, Jaimes GC, Barrios MC, Cespedes C, Velasco HM.

Mol Genet Genomic Med. 2014 Mar;2(2):95-102. doi: 10.1002/mgg3.39. Epub 2013 Oct 14.

13.

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.

Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, Ajaltouni Z, Pauwels C, Pinto G, Samara-Boustani D, Simon A, Thalassinos C, Le Merrer M, Cormier-Daire V, Polak M.

Eur J Endocrinol. 2014 Apr 10;170(5):677-84. doi: 10.1530/EJE-13-0864. Print 2014 May.

14.

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE.

PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014.

15.

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M.

Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5.

PMID:
24311385
16.

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
17.

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A.

Hum Mol Genet. 2014 Mar 15;23(6):1619-30. doi: 10.1093/hmg/ddt552. Epub 2013 Nov 1.

18.

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
19.

Langer mesomelic dysplasia in early fetuses: two cases and a literature review.

Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F.

Fetal Pediatr Pathol. 2014 Apr;33(2):71-83. doi: 10.3109/15513815.2013.807322. Epub 2013 Jul 24. Review.

PMID:
23883335
20.

Langer's mesomelic dysplasia: a case report.

Aggarwal V, Aggarwal N, Venkat B.

J Pediatr Orthop B. 2014 Mar;23(2):200-2. doi: 10.1097/BPB.0b013e3283642242. Review.

PMID:
23863349
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