Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1999 1
2001 1
2002 1
2012 1
2013 1
2014 1
2015 1
2020 3
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
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.
Thundering hoofbeats and dazzling zebras: A model integrating current rare disease perspectives in paleopathology.
Cormier AA, Buikstra JE. Cormier AA, et al. Int J Paleopathol. 2021 Jun;33:196-208. doi: 10.1016/j.ijpp.2021.04.010. Epub 2021 May 10. Int J Paleopathol. 2021. PMID: 33984627 Review.
RESULTS: The skeletal manifestations observed suggests limitations of major life activities, which would have increased in severity throughout the life course of EZ 3-7-1. CONCLUSIONS: The study of EZ 3-7-1 demonstrates how an osteobiography, centering on the lived experie …
RESULTS: The skeletal manifestations observed suggests limitations of major life activities, which would have increased in severity througho …
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). Huguet S, et al. Orthop Traumatol Surg Res. 2014 Oct;100(6 Suppl):S349-52. doi: 10.1016/j.otsr.2014.06.007. Epub 2014 Sep 10. Orthop Traumatol Surg Res. 2014. PMID: 25217032 Free article.
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Babu D, et al. Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9. Eur J Hum Genet. 2021. PMID: 32647378 Free PMC article.
The variants were tested for their ability to interfere with correct gene expression of a regulated reporter gene (luciferase assay). The negative effect on the mRNA splicing predicted in silico for c.-19G > A was assayed in vitro through a minigene splicing assay. ...
The variants were tested for their ability to interfere with correct gene expression of a regulated reporter gene (luciferase assay). The ne …
Pseudoautosomal linkage of Hodgkin disease.
Horwitz M, Wiernik PH. Horwitz M, et al. Am J Hum Genet. 1999 Nov;65(5):1413-22. doi: 10.1086/302608. Am J Hum Genet. 1999. PMID: 10521308 Free PMC article.
This places SHOX near the short-arm telomeres of the sex chromosome and supports the prediction that PAR recombination is obligatory for spermatogenesis. By inferring recombinations between HD and sexual phenotype in sib pairs, we predict, for the postulated HD gene …
This places SHOX near the short-arm telomeres of the sex chromosome and supports the prediction that PAR recombination is obligatory …
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
The same mutation was present in the heterozygous state in the proband's father and in the maternal grandmother, both of whom had features of LWD. This C to T transition is predicted to cause an arginine to cysteine amino acid change in a highly conserved region of the rec …
The same mutation was present in the heterozygous state in the proband's father and in the maternal grandmother, both of whom had features o …
11 results