Literature DB >> 13275462

Possible genetic carriers in the spherophakia-brachymorphia syndrome.

H W KLOEPFER, J W ROSENTHAL.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; BONES/abnormalities; CRYSTALLINE LENS/abnormalities; HEREDITY

Mesh：

Year:  1955        PMID： 13275462      PMCID： PMC1716673     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

1.  The distal triradius t on the hands of parents and sibs of mongol imbeciles.

Authors:  L S PENROSE
Journal:  Ann Hum Genet       Date:  1954-07       Impact factor: 1.670

2.  Spherophakia with brachydactyly; comparison with Marfan's syndrome.

Authors:  L A PROBERT
Journal:  Am J Ophthalmol       Date:  1953-11       Impact factor: 5.258
  2 in total
  3 in total

1.  The severe recessive form of pseudoachondroplastic dysplasia.

Authors:  N R Dennis; P Renton
Journal:  Pediatr Radiol       Date:  1975-06-13

2.  A case of Weill-Marchesani syndrome with inversion of chromosome 15.

Authors:  Jae Lim Chung; Sun Woong Kim; Ji Hyun Kim; Tae-Im Kim; Hyung Keun Lee; Eung Kweon Kim
Journal:  Korean J Ophthalmol       Date:  2007-12

3.  Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome.

Authors:  Cem Evereklioglu; Yusuf Turkoz; Mustafa Calis; Fuat Duygulu; Aysun B Karabulut
Journal:  Mediators Inflamm       Date:  2004-06       Impact factor: 4.711
  3 in total

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