Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).

Literature DB >> 4953364

Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).

D C Aberfeld, L P Hinterbuchner, M Schneider.

Abstract

Entities: Disease

Mesh：

Year: 1965 PMID： 4953364 DOI： 10.1093/brain/88.2.313

Source DB: PubMed Journal: Brain ISSN： 0006-8950 Impact factor: 13.501

Keyword Cloud
Cited

× No keyword cloud information.

10 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. Early onset myotonic dystrophy in association with polyneuropathy.

Authors: K Paramesh; B H Smith; K Kalyanaraman
Journal: J Neurol Neurosurg Psychiatry Date: 1975-11 Impact factor: 10.154

3. 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

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. 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

6. Perlecan: an important component of the cartilage pericellular matrix.

Authors: R Gomes; C Kirn-Safran; M C Farach-Carson; D D Carson
Journal: J Musculoskelet Neuronal Interact Date: 2002-12 Impact factor: 2.041

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