نتایج جستجو برای: skeletal disorders

تعداد نتایج: 761123  

Journal: :Annals of the Rheumatic Diseases 1983

Journal: :Journal of Drug Delivery and Therapeutics 2021

The nail unit is the largest cutaneous musculo-skeletal appendage. management of disorders an onerous task owing to disease manifestations and anatomical structure plate. topical treatment infections/disorders has been a centerpiece research in past few decades as it offers much safer focused alternative conventional oral therapy. However, transungual delivery had its challenges. This necessita...

2015
Daniel L. Polla Maria T. O. Cardoso Mayara C. B. Silva Isabela C. C. Cardoso Cristina T. N. Medina Rosenelle Araujo Camila C. Fernandes Alessandra M. M. Reis Rosangela V. de Andrade Rinaldo W. Pereira Robert Pogue Michael Edward Zwick

Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual rarity and their diverse radiographic presentations. We used targeted exome sequencing and desig...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2014

Introduction: Skeletal staining is an important part of anatomical studies which can evaluate macroscopic disorders in bones and cartilages development. The aim of the present article is to illustrate two distinct protocols by all details in order to stain skeletal system of the lab animals in all ages of their lives so it becomes easy for future studies in this field. Methods: In this pa...

Journal: :genetics in the 3rd millennium 0
navid almadani farzaneh farhan fariba afroozan

larsen syndrome is a skeletal dysplasia (osteochondro-dysplasia) in which multiple dislocations of the large joints are the major feature . nosology in this group of disease, which constitutes 8% of mendelian disorders in man, is primarily based on clinical and radiological features. the underlying genetic defect is 3p21.1-p14.1 in the dominant type

B. Navidshad, F. Mirzaei Aghjeh Gheshlagh S. Jabbari

There were no considerable up to date on the trace element requirements of commercial poultry in recent years in despite of the progress in their performance traits. One of the more prevalent problems in modern broiler production system which could be attributed to the trace mineral inadequacy is skeletal disorders. Zinc, is an essential trace element which acts as a co-factor in several metalo...

Journal: :American journal of medical genetics. Part A 2007
Andrea Superti-Furga Sheila Unger

The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly recognized disorders and reflects new molecular and pathogenetic concepts. Criteria for inclusion of disorders were (1) significant skeletal involvement corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malform...

Introduction: Different factors such as respiratory disorders , genetics, facial growth pattern , tongue malfunction and malposition are associated with anterior open bite. Skeletal open bite is often appeared by increased posterior dentoalveolar height of maxilla and backward rotation of mandible. Many treatment approaches have been developed for treatment of increased facial height problems. ...

2011
Dina Simkin Saïd Bendahhou

Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Na(v)1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe ca...

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