Literature DB >> 4830552

The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions.

W M Fowler, R B Layzer, R G Taylor, E D Eberle, G E Sims, T L Munsat, M Philippart, B W Wilson.   

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Year:  1974        PMID： 4830552     DOI： 10.1016/0022-510x(74)90060-4

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  12 in total

1.  Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Authors:  K A Brown; L I al-Gazali; L M Moynihan; N J Lench; A F Markham; R F Mueller
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  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

3.  Rhabdomyolysis in Stuve-Wiedemann syndrome.

Authors:  Pemantah Sandheeah Ramdeny; Colin Powell; Mallinath Chakraborty; Louise Hartley
Journal:  BMJ Case Rep       Date:  2018-02-08

4.  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

5.  Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Authors:  L I Al-Gazali; M Varghese; E Varady; J Al Talabani; J Scorer; D Bakalinova
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

6.  Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Authors:  Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
Journal:  Am J Hum Genet       Date:  2002-04-08       Impact factor: 11.025

7.  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

8.  The Marden-Walker syndrome.

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

9.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

Review 10.  Drug treatment for myotonia.

Authors:  J Trip; G Drost; B G M van Engelen; C G Faber
Journal:  Cochrane Database Syst Rev       Date:  2006-01-25
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