Results 261 to 270 of about 308,307 (292)
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Neurologic Clinics, 2002
The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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Hospital Practice, 1982
Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
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Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
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Acta Psychiatrica Scandinavica, 1989
A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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Hematology, 2005
Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Inherited disorders of cytokines
Current Opinion in Pediatrics, 2004Cytokines are soluble mediators involved in the development or function of the immune system. This paper reviews the literature on childhood-onset inherited disorders associated with impaired cytokine-mediated immunity.Cytokine-mediated immunity defects can be classified into seven different groups: defects in the interleukin (IL)-7 receptor (IL7RA ...
Capucine, Picard, Jean-Laurent, Casanova
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Current Opinion in Hematology, 2003
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Inherited Mitochondrial Disorders
2011Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
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Inherited disorders of complement
Journal of the American Academy of Dermatology, 1983Isolated complement component deficiencies are uncommon. Deficiencies of all eleven components and two inhibitors of the classical pathway have been described. Complete absence of the components of the alternative pathway has not been described. The consequences of a single defect in complement are often predictable from an understanding of the ...
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Inherited iron overload disorders
Current Opinion in Pediatrics, 2000Iron is an essential nutrient that is highly toxic in excess. Normal iron balance is maintained primarily by regulation of intestinal absorption of the metal from the diet. Iron overload generally results from a chronic increase in intestinal absorption.
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Inheritance of mitochondrial disorders
Mitochondrion, 2002Over the last decade there have been major advances in our understanding of the genetic basis of mitochondrial disease, enabling genetic counseling for patients with autosomal dominant and autosomal recessive disorders. Genetic counseling for patients with mitochondrial DNA (mtDNA) mutations is less well established.
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