Literature DB >> 13489517

Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings.

R SMITH, J J McCORT.   

Abstract

Keywords:  ECCENTRO-OSTEOCHONDRODYSPLASIA

Mesh：

Year:  1958        PMID： 13489517      PMCID： PMC1512281     

Source DB:  PubMed          Journal:  Calif Med        ISSN： 0008-1264


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  6 in total

1.  True chondro-osteodystrophy (Morquio's disease).

Authors:  J J TOMA
Journal:  Surg Clin North Am       Date:  1953-12       Impact factor: 2.741

2.  [Morquio's disease; a review of the literature with a description of four cases].

Authors:  J D WHITESIDE; J A CHOLMELEY
Journal:  Arch Dis Child       Date:  1952-10       Impact factor: 3.791

3.  Gargoylism and Morquio's disease.

Authors:  H ZELLWEGER; L GIACCAI; S FIRZLI
Journal:  AMA Am J Dis Child       Date:  1952-10

4.  A Rare Disease in Two Brothers.

Authors:  C Hunter
Journal:  Proc R Soc Med       Date:  1917

5.  Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development.

Authors:  W P JACKSON; J HANELIN; F ALBRIGHT
Journal:  AMA Arch Intern Med       Date:  1954-12

6.  Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy) prenatal and neonatal bone lesions and their early postnatal evolution.

Authors:  J CAFFEY
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1952-05
  6 in total
  9 in total

1.  Dyggve-Melchior-Clausen syndrome.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

Authors:  H V Dyggve; J C Melchior; J Clausen
Journal:  Arch Dis Child       Date:  1962-10       Impact factor: 3.791

3.  Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Authors:  J Spranger; B Bierbaum; J Herrmann
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

4.  Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Authors:  Ola Khalifa; Faiqa Imtiaz; Nadia Al-Sakati; Khalid Al-Manea; Alain Verloes; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2010-09-24       Impact factor: 3.183

5.  Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Authors:  Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2002-08-02       Impact factor: 11.025

6.  Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Authors:  C Thauvin-Robinet; V El Ghouzzi; W Chemaitilly; N Dagoneau; O Boute; G Viot; A Mégarbané; A Sefiani; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

7.  Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Authors:  Daniel H Cohn; Nadia Ehtesham; Deborah Krakow; Sheila Unger; Alan Shanske; Kent Reinker; Berkley R Powell; David L Rimoin
Journal:  Am J Hum Genet       Date:  2002-12-16       Impact factor: 11.025

Review 8.  Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Authors:  C J Hendriksz; P Harmatz; M Beck; S Jones; T Wood; R Lachman; C G Gravance; T Orii; S Tomatsu
Journal:  Mol Genet Metab       Date:  2013-04-10       Impact factor: 4.797

9.  Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2011-09-20
  9 in total

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