Literature DB >> 13909723

Congenital blepharophimosis associated with a unique generalized myopathy.

O SCHWARTZ, R S JAMPEL.   

Abstract

Entities:  

Keywords:  EYELIDS/abnormalities; MUSCLES/diseases

Mesh:

Year:  1962        PMID: 13909723     DOI: 10.1001/archopht.1962.00960030056011

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


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  20 in total

1.  Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.

Authors:  Sarah S Samimi; Walter S Lesley
Journal:  AJNR Am J Neuroradiol       Date:  2003-09       Impact factor: 3.825

2.  Isolated muscle hypertrophy as a sign of radicular or peripheral nerve injury.

Authors:  H P Mattle; C W Hess; H P Ludin; M Mumenthaler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-04       Impact factor: 10.154

3.  Myotonia. A review of its clinical implications.

Authors:  G P Bhatt; N Vijayan; P M Dreyfus
Journal:  Calif Med       Date:  1971-02

4.  Schwartz-Jampel syndrome associated with von Willebrand's disease.

Authors:  M Kuriyama; K Shinmyozu; M Osame; M Kawahira; A Igata
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

Review 5.  Stiff muscles.

Authors:  P D Thompson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-02       Impact factor: 10.154

6.  A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.

Authors:  M Baraitser; J Burn; J Fixsen
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

7.  Schwartz-Jampel syndrome in two daughters of first cousins.

Authors:  L Pavone; F Mollica; A Grasso; A Cao; F Gullotta
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

8.  Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

Authors:  Katarzyna A Piróg; Michael D Briggs
Journal:  J Biomed Biotechnol       Date:  2010-05-24

9.  Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

Authors:  A Richieri-Costa; S M Garcia da Silva; O Frota-Pessoa
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

10.  The Marden-Walker syndrome.

Authors:  C R King; E Magenis
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

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