Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxtaepiphyseal regions of the long bones. Recently, EXT1 and EXT2 genes were cloned and germline mutations of EXT1 and EX...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Park, K, Shin, K, Ku, J, Cho, T, Lee, S, Choi, I, Phillipe, C, Monaco, A, Porter, D, Park, J
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	1999

Míreanna comhchosúla

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
de réir: Philippe, C, et al.
Foilsithe / Cruthaithe: (1997)

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
de réir: Zayed Al-Zayed, et al.
Foilsithe / Cruthaithe: (2021-02-01)

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses
de réir: Wen-Chau Chen, et al.
Foilsithe / Cruthaithe: (2006-01-01)

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
de réir: Dobson-Stone, C, et al.
Foilsithe / Cruthaithe: (2000)

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing
de réir: Chao Liang, et al.
Foilsithe / Cruthaithe: (2020-06-01)

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate
de réir: Caixia Xian, et al.
Foilsithe / Cruthaithe: (2021-05-01)

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
de réir: Angelos Alexandrou, et al.
Foilsithe / Cruthaithe: (2023-05-01)

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses
de réir: Wanlu Liu, et al.
Foilsithe / Cruthaithe: (2022-09-01)

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family
de réir: Muhammad Ajmal, et al.
Foilsithe / Cruthaithe: (2022-12-01)

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
de réir: Lonie, L, et al.
Foilsithe / Cruthaithe: (2006)

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report
de réir: Gozde Atasever Yildirim, et al.
Foilsithe / Cruthaithe: (2024-10-01)

Breakpoint characterization of large deletions in <it>EXT1 </it>or <it>EXT2 </it>in 10 Multiple Osteochondromas families
de réir: Szuhai Karoly, et al.
Foilsithe / Cruthaithe: (2011-06-01)

Exts and the AGT Relations
de réir: Negut, Andrei
Foilsithe / Cruthaithe: (2018)

Structure of the human heparan sulfate polymerase complex EXT1-EXT2
de réir: Francisco Leisico, et al.
Foilsithe / Cruthaithe: (2022-11-01)

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
de réir: Lemos, M, et al.
Foilsithe / Cruthaithe: (2005)

An 8q24.11q24.13 Microdeletion Encompassing EXT1 in a Boy with Autistic Spectrum Disorder, Intellectual Disability, and Multiple Hereditary Exostoses
de réir: Min Jeong Kim, et al.
Foilsithe / Cruthaithe: (2022-04-01)

Hereditary multiple exostoses
de réir: Hasan Ekim, et al.
Foilsithe / Cruthaithe: (2017-01-01)

EXT(1) FOR WEYL MODULES OF SL(2)(K)
de réir: Erdmann, K
Foilsithe / Cruthaithe: (1995)

THE EXT RACORPOREAL FERTILIZATION TECHNOLOGIES AND THE SINGULARITY PROBLEMS
de réir: S. V. Denysenko
Foilsithe / Cruthaithe: (2013-05-01)

Severity of disease and risk of malignant change in hereditary multiple exostoses
de réir: Porter, D, et al.
Foilsithe / Cruthaithe: (2004)

Hereditary Multiple Exostoses of the Hip
de réir: Tarek AM El-Fiky, et al.
Foilsithe / Cruthaithe: (2009-08-01)

On Ext(2) between Weyl modules for quantum GL(n)
de réir: Cox, A, et al.
Foilsithe / Cruthaithe: (2000)

ALJABAR HOMOLOGIS ATAS MODUL: TOR DAN EXT
de réir: , RAMLI, S.Si., et al.
Foilsithe / Cruthaithe: (2012)

Тext Understanding as a Special Kind of Understanding
de réir: Nataliia Akimova, et al.
Foilsithe / Cruthaithe: (2018-10-01)

Review of: iBioSeminars and iBioMagazineReview of: iBioSeminars (<ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="http://ibioseminars.org/" ext-link-type="uri">http://ibioseminars.org/</ext-link>) and iBio-Magazine (<ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="http://ibiomagazine.org/" ext-link-type="uri">http://ibiomagazine.org/</ext-link>).
de réir: Pamela A. Marshall
Foilsithe / Cruthaithe: (2013-01-01)

Online Genome Analysis Resources for Educators, a Comparative ReviewReviews of: <italic toggle="yes">Carolina Biological Supply Company,</italic> <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="www.carolina.com" ext-link-type="uri">www.carolina.com</ext-link>; <italic toggle="yes">Bio-Rad,</italic> <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="www.bio-rad.com" ext-link-type="uri">www.bio-rad.com</ext-link>; <italic toggle="yes">Edvotek Inc.,</italic> <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="www.edvotek.com" ext-link-type="uri">www.edvotek.com</ext-link>; <italic toggle="yes">Hiram Genomics Store,</italic> <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="www.hiramgenomicsstore.com" ext-link-type="uri">www.hiramgenomicsstore.com</ext-link>; and <italic toggle="yes">23andMe,</italic> <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="www.23andme.com" ext-link-type="uri">www.23andme.com</ext-link>.
de réir: Sarah Grace Prescott
Foilsithe / Cruthaithe: (2012-01-01)

Hereditary multiple exostoses: an educational review
de réir: Alvaro Rueda-de-Eusebio, et al.
Foilsithe / Cruthaithe: (2025-02-01)

Reconstruction of the Hip in Multiple Hereditary Exostoses
de réir: Dong Hoon Lee, et al.
Foilsithe / Cruthaithe: (2021-06-01)

Hereditary Multiple Exostoses with Ulnar Hemimelia
de réir: Syed Wasif Ali Shah, et al.
Foilsithe / Cruthaithe: (2021-06-01)

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.
de réir: Feng Zhang, et al.
Foilsithe / Cruthaithe: (2013-01-01)

Large Ensembles for Attribution of Dynamically-driven ExtRemes (LEADER)
de réir: Garfinkel, C, et al.
Foilsithe / Cruthaithe: (2024)

遗传性多发性骨软骨瘤致病基因EXT1和EXT2的多态性研究
Foilsithe / Cruthaithe: (2011-01-01)

Elucidating the complex membrane binding of a protein with multiple anchoring domains using extHMMM.
de réir: Jesper J Madsen, et al.
Foilsithe / Cruthaithe: (2024-07-01)

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.
de réir: Porter, D, et al.
Foilsithe / Cruthaithe: (2004)

extRemes 2.0: An Extreme Value Analysis Package in R
de réir: Eric Gilleland, et al.
Foilsithe / Cruthaithe: (2016-08-01)

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.
de réir: Aurélie Clément, et al.
Foilsithe / Cruthaithe: (2008-07-01)

Ankle Mortise Instability in Multiple Hereditary Exostoses
de réir: M Pierce Ebaugh DO, et al.
Foilsithe / Cruthaithe: (2019-10-01)

Coronal malalignment of lower legs depending on the locations of the exostoses in patients with multiple hereditary exostoses
de réir: Yeong Seub Ahn, et al.
Foilsithe / Cruthaithe: (2019-11-01)

Professional JavaScript frameworks : prototype, YUI, ExtJS, Dojo and Mootools /
de réir: Orchard, Leslie M. (Leslie Michael), 1975-
Foilsithe / Cruthaithe: (2009)

Ext-LOUDS: A Space Efficient Extended LOUDS Index for Superset Query
de réir: Lianyin Jia, et al.
Foilsithe / Cruthaithe: (2020-11-01)