نتایج جستجو برای: genetic disorders

تعداد نتایج: 1235793  

2011
Deborah J. Fidler Victoria C.P. Knowland

As the cognitive system develops over infancy and through childhood, profound changes in capacity and complexity occur. It is no surprise, then, that neurodevelopmental disorders of genetic origin are emergent over time. Characteristic cognitive profiles arise as neurodevelopmental

Journal: :Australian dental journal 1998
G C Townsend M J Aldred P M Bartold

This paper reviews past and present applications of quantitative and molecular genetics to dental disorders. Examples are given relating to craniofacial development (including malocclusion), oral supporting tissues (including periodontal diseases) and dental hard tissues (including defects of enamel and dentine as well as dental caries). Future developments and applications to clinical dentistr...

Journal: :Developmental medicine and child neurology 2012
Bernard Dan Ellie Smith

Dramatic, seemingly exponential advances have brought about much hope towards improving the efficacy of management of patients with conditions long-thought incurable, such as neurogenetic disorders. These advances have been both technological and conceptual. They result from refinements in the understanding of pathophysiology and intensive developments of approaches to compensate or bypass the ...

2005
Ghazi Omar Tadmouri

Since the 1950s, Arab countries have made progress in some health related aspects such as: infant mortality, life expectancy, and access to health care. Infectious diseases and nutritional disorders have decreased in prevalence because of significant advances in immunization and the overall improvement in hygiene. Arab scholars working in the field of biomedical sciences are giving more attenti...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1989
J D Parkes C B Lock

Several sleep disorders have a genetic basis. These conditions include the narcoleptic syndrome, sleep walking, periodic movements in sleep, circadian delay syndromes and familial insomnia. These disorders illustrate different control mechanisms involved in sleep and wakefulness, including those determining the prevalence and timing of NREM and REM activity, somatomotor inhibition and excitatio...

Journal: :Science 1999
S J Paterson J H Brown M K Gsödl M H Johnson A Karmiloff-Smith

This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experi...

2015
Tijana Bojic Branislav Milovanovic Snezana Jovanovic Cupic

Tel: +381 11 644 74 85 Abstract The autonomic nervous control of cardiovascular (CV) system plays a major role in the adaptation of the organism to the changes in external and internal environment. It’s dysfunction is the major pathophysiological factor in the development of neurocardiovascular diseases. The aim of this review is to present the state of the art on the role of candidate gene pol...

2015
Vaibav Saxena

Due to the close proximity of the mitochondrial genome to the respiratory chain complex producing ATP, it is believed to be more susceptible to get damaged by the reactive oxygen species (ROS) than nuclear DNA. In addition to this, the poorly developed mitochondrial DNA (mtDNA) repair machinery and the lack of protective histones, unlike in nuclear genome are also believed to be the major facto...

2007
Helen M Kingston

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

2005
HEINI HARTIKKA Leena Ala-Kokko

Genetic factors and their resulting phenotypes were evaluated in three different bone disorders: osteogenesis imperfecta (OI), juvenile idiopathic osteoporosis (JIO), and stress fractures. The spectrum of the OI phenotypes caused by mutations in the COL1A1 and COL1A2 genes is well defined, but the mechanisms by which the variations affect the hearing phenotype are not wellknown. A total of 54 F...

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