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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1979 1
1990 2
2000 1
2001 2
2002 1
2004 1
2005 1
2006 1
2007 1
2008 1
2009 1
2013 1
2014 2
2015 1
2016 2
2017 1
2022 1
2024 0

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20 results

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Page 1
Madelung Deformity.
Kozin SH, Zlotolow DA. Kozin SH, et al. J Hand Surg Am. 2015 Oct;40(10):2090-8. doi: 10.1016/j.jhsa.2015.03.033. Epub 2015 Sep 1. J Hand Surg Am. 2015. PMID: 26341718 Review.
Madelung deformity of the wrist is more common in females and is often associated with Leri Weill dyschondrosteosis, a mesomelic form of dwarfism. Patients with Madelung deformity often report wrist deformity resulting from the prominence of the relatively long ulna …
Madelung deformity of the wrist is more common in females and is often associated with Leri Weill dyschondrosteosis, a mesomelic form …
Clinical impact of variants in non-coding regions of SHOX - Current knowledge.
Spurna Z, Capkova P, Srovnal J, Duchoslavova J, Punova L, Aleksijevic D, Vrtel R. Spurna Z, et al. Gene. 2022 Apr 15;818:146238. doi: 10.1016/j.gene.2022.146238. Epub 2022 Jan 22. Gene. 2022. PMID: 35074420 Free article. Review.
The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or diagnosed with Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), or Madelung deformit …
The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short st …
Robinow syndrome.
Patton MA, Afzal AR. Patton MA, et al. J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. J Med Genet. 2002. PMID: 12011143 Free PMC article. Review.
In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". ...
In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". …
Imaging of SHOX-associated anomalies.
Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R. Gahunia HK, et al. Semin Musculoskelet Radiol. 2009 Sep;13(3):236-54. doi: 10.1055/s-0029-1237691. Epub 2009 Sep 1. Semin Musculoskelet Radiol. 2009. PMID: 19724992 Review.
Although it is clear that multiple factors contribute to an individual's final height and limb development, genetic factors play a crucial role. One such gene is the short stature homeobox ( SHOX) containing gene. Knowledge about the SHOX gene has rapidly increased …
Although it is clear that multiple factors contribute to an individual's final height and limb development, genetic factors play a crucial r …
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.
Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in …
Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Alt …
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 dyschondrosteosis, …
In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic …
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 dys …
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Ca …
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. ...This review summarises the invol …
The Short Stature Homeobox-containing Gene SHOX was identified as the genetic cause of the short stature phenoty …
SHOX haploinsufficiency and overdosage: impact of gonadal function status.
Ogata T, Matsuo N, Nishimura G. Ogata T, et al. J Med Genet. 2001 Jan;38(1):1-6. doi: 10.1136/jmg.38.1.1. J Med Genet. 2001. PMID: 11134233 Free PMC article. Review.
In this review, we summarise clinical features and diagnostic and therapeutic implications in SHOX haploinsufficiency and overdosage. SHOX haploinsufficiency usually results in mesomelic short stature and Turner skeletal features, including Madelung deformity …
In this review, we summarise clinical features and diagnostic and therapeutic implications in SHOX haploinsufficiency and overdosage. SHOX h …
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.
Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and life span and are usually seen later in life for management of skeletal deformities. ...Further genetic studies are sometimes performed for c …
Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and l …
20 results