Literature DB >> 1856833

Hereditary multiple exostoses.

R C Hennekam1.   

Abstract

Mesh：

Year:  1991        PMID： 1856833      PMCID： PMC1016830          DOI： 10.1136/jmg.28.4.262

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  38 in total

1.  Spontaneous resolution of an osteochondroma.

Authors:  J E Callan; V E Wood; L Linda
Journal:  J Bone Joint Surg Am       Date:  1975-07       Impact factor: 5.284

2.  HEREDITARY MULTIPLE EXOSTOSIS.

Authors:  L SOLOMON
Journal:  Am J Hum Genet       Date:  1964-09       Impact factor: 11.025

3.  Influence of denervated muscles on exostoses of rats fed a sweet-pea diet.

Authors:  C J HAMRE; V L YEAGER
Journal:  AMA Arch Pathol       Date:  1958-02

4.  Studies on the Anatomical Changes which accompany certain Growth-disorders of the Human Body: I. The Nature of the Structural Alterations in the Disorder known as Multiple Exostoses.

Authors:  A Keith
Journal:  J Anat       Date:  1920-01       Impact factor: 2.610

5.  Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

Authors:  H J Lüdecke; R Burdiek; G Senger; U Claussen; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

6.  Multiple hereditary osteochondromata.

Authors:  H A Peterson
Journal:  Clin Orthop Relat Res       Date:  1989-02       Impact factor: 4.176

7.  Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis.

Authors:  R Reimão; A Diament
Journal:  Arq Neuropsiquiatr       Date:  1989-03       Impact factor: 1.420

8.  New syndrome: exostoses, anetodermia, brachydactyly.

Authors:  F Mollica; S Li Volti; B Guarneri
Journal:  Am J Med Genet       Date:  1984-12

9.  DNA polymorphism analysis of hereditary multiple exostoses in horses.

Authors:  J K Li; B K Moloney; J L Shupe; E J Gardner; N C Leone; Y Elsner
Journal:  Am J Vet Res       Date:  1989-06       Impact factor: 1.156

Review 10.  Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review.

Authors:  R L Loomer
Journal:  Clin Orthop Relat Res       Date:  1989-01       Impact factor: 4.176
View more
  63 in total

1.  The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

Authors:  C McCormick; G Duncan; K T Goutsos; F Tufaro
Journal:  Proc Natl Acad Sci U S A       Date:  2000-01-18       Impact factor: 11.205

2.  A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.

Authors:  Kazu Matsumoto; Fumitoshi Irie; Susan Mackem; Yu Yamaguchi
Journal:  Proc Natl Acad Sci U S A       Date:  2010-06-01       Impact factor: 11.205

3.  Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

Authors:  George A Tanteles; Michael Nicolaou; Vassos Neocleous; Christos Shammas; Maria A Loizidou; Angelos Alexandrou; Elena Ellina; Nasia Patsia; Carolina Sismani; Leonidas A Phylactou; Violetta Christophidou-Anastasiadou
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166

4.  Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?

Authors:  G Hamann; M Zankl; K Schimrigk; R Kloss
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

5.  Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Authors:  Sana Sfar; Abderrazak Abid; Wijden Mahfoudh; Houyem Ouragini; Farah Ouechtati; Sonia Abdelhak; Lotfi Chouchane
Journal:  Mol Biol Rep       Date:  2008-03-11       Impact factor: 2.316

6.  Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Authors:  C Philippe; D E Porter; M E Emerton; D E Wells; A H Simpson; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

7.  The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.

Authors:  G A Clines; J A Ashley; S Shah; M Lovett
Journal:  Genome Res       Date:  1997-04       Impact factor: 9.043

8.  Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Authors:  W Wuyts; W Van Hul; K De Boulle; J Hendrickx; E Bakker; F Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; G Mortier; B Hamel; E U Conrad; M Matsushita; W H Raskind; P J Willems
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 9.  Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.

Authors:  Giovanni Beltrami; Gabriele Ristori; Guido Scoccianti; Angela Tamburini; Rodolfo Capanna
Journal:  Clin Cases Miner Bone Metab       Date:  2016-10-05

Review 10.  Osteochondromas: An Updated Review of Epidemiology, Pathogenesis, Clinical Presentation, Radiological Features and Treatment Options.

Authors:  Kostas Tepelenis; Georgios Papathanakos; Aikaterini Kitsouli; Theodoros Troupis; Alexandra Barbouti; Konstantinos Vlachos; Panagiotis Kanavaros; Panagiotis Kitsoulis
Journal:  In Vivo       Date:  2021 Mar-Apr       Impact factor: 2.155
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.