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Page 1
Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F. Ambrosetti F, et al. Fetal Pediatr Pathol. 2014 Apr;33(2):71-83. doi: 10.3109/15513815.2013.807322. Epub 2013 Jul 24. Fetal Pediatr Pathol. 2014. PMID: 23883335 Review.
In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Leri-Weill dysc …
In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesom
Langer's mesomelic dysplasia: a case report.
Aggarwal V, Aggarwal N, Venkat B. Aggarwal V, et al. J Pediatr Orthop B. 2014 Mar;23(2):200-2. doi: 10.1097/BPB.0b013e3283642242. J Pediatr Orthop B. 2014. PMID: 23863349 Review.
The literature is sparse with less than a hundred cases reported, and this case adds to the available data on this rare syndrome....
The literature is sparse with less than a hundred cases reported, and this case adds to the available data on this rare syndrome....
SHOX at a glance: from gene to protein.
Marchini A, Rappold G, Schneider KU. Marchini A, et al. Arch Physiol Biochem. 2007 Jun;113(3):116-23. doi: 10.1080/13813450701531201. Arch Physiol Biochem. 2007. PMID: 17922307 Review.
The Short Stature Homeobox-containing Gene SHOX was identified as the genetic cause of the short stature phenotype in patients with Turner Syndrome and in certain patients with idiopathic short stature. Shortly after, SHOX mutations were also associated with the growth fai …
The Short Stature Homeobox-containing Gene SHOX was identified as the genetic cause of the short stature phenotype in patients with Turner …
SHOX: growth, Leri-Weill and Turner syndromes.
Blaschke RJ, Rappold GA. Blaschke RJ, et al. Trends Endocrinol Metab. 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9. Trends Endocrinol Metab. 2000. PMID: 10878753 Review.
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Furthermore, recent studies implicat …
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and …
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A, Ogata T, Rappold GA. Marchini A, et al. Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29. Endocr Rev. 2016. PMID: 27355317 Free PMC article. Review.
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Leri-Weill dyschondrosteosis, and …
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Caused by …
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.
Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic …
Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, L …
Short stature and dysmorphology associated with defects in the SHOX gene.
Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E. Leka SK, et al. Hormones (Athens). 2006 Apr-Jun;5(2):107-18. doi: 10.14310/horm.2002.11174. Hormones (Athens). 2006. PMID: 16807223 Free article. Review.
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scop …
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Leri-Weill …