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1987 1
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2005 4
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2007 5
2009 2
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55 results

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Page 1
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 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 …
Heterozygous manifestations of Langer mesomelic dysplasia.
Goldblatt J, Wallis C, Viljoen D, Beighton P. Goldblatt J, et al. Clin Genet. 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x. Clin Genet. 1987. PMID: 3568430
It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of …
It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer …
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Fukami M, et al. Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852. Am J Med Genet A. 2005. PMID: 16007631 Review.
It is known that SHOX nullizygosity results in Langer mesomelic dysplasia (LMD) and SHOX haploinsufficiency leads to Leri-Weill dyschondrosteosis (LWDC). ...
It is known that SHOX nullizygosity results in Langer mesomelic dysplasia (LMD) and SHOX haploinsufficiency leads to Le …
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM. Shears DJ, et al. Am J Med Genet. 2002 Jun 15;110(2):153-7. doi: 10.1002/ajmg.10421. Am J Med Genet. 2002. PMID: 12116253
We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) both segregate. A newborn male and his mother, both with Langer mesomel …
We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Leri-Weill dyschondrosteosis (LWD) …
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 deformity (MD). Howeve …
The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or …
Complete SHOX deficiency causes Langer mesomelic dysplasia.
Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Zinn AR, et al. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422. Am J Med Genet. 2002. PMID: 12116254
SHOX haploinsufficiency has been implicated in three human growth disorders: Turner syndrome, idiopathic short stature, and Leri-Weill dyschondrosteosis. Langer mesomelic dysplasia is thought to be the homozygous form of dyschondrosteosis. However, complete S …
SHOX haploinsufficiency has been implicated in three human growth disorders: Turner syndrome, idiopathic short stature, and Leri-Weill dysch …
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. Tsuchiya T, et al. Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311385
Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of SHOX results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD/LMD include various microdeletions in PAR1 t …
Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of …
55 results