نتایج جستجو برای: thanatophoric

تعداد نتایج: 254  

Journal: :Human molecular genetics 1996
F Rousseau V el Ghouzzi A L Delezoide L Legeai-Mallet M Le Merrer A Munnich J Bonaventure

Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes. While TD2 ...

Journal: :Folia morphologica 2010
H Mahmoudzadeh-Sagheb Z Heidari M Bokaeian B Moudi

The leaves of Eucalyptus globulus (eucalyptus) are used for the treatment of diabetes mellitus in traditional medicine. The aim of this study was to evaluate the effects of eucalyptus on streptozotocin (STZ)-induced damage in pancreatic islands by stereological methods. Fifty mature normoglycaemic male Wistar rats, weighing 200-250 g, were selected and randomly divided into 5 groups (n = 10): c...

Journal: :Human molecular genetics 1997
H B Nguyen M Estacion J J Gargus

Mutations in the fibroblast growth factor receptor (FGFR) gene family recently have been shown to underlie several hereditary disorders of bone development, with specific FGFR3 mutations causing achondroplasia (Ach) and thanatophoric dysplasia (TD). However, for none of these mutations has the defect in receptor function been demonstrated directly and, therefore, for none has the pathophysiolog...

2001
K. Selvaraj K. Kuruvilla

60's (Brandup, 1961) with few reports scattered in each subsequent decade. However, there has been a resurgence of interest in this drug in recent years (Sachdev, 2000; Ondoetal., 1999; Jankovic & Beach, 1997), a probable consequence of failure of other heuristic approaches to deliver the goods. To conclude, given the dramatic benefit shown in this case and the relatively poor efficacy of tradi...

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