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Hematology/Oncology Clinics of North America, 2021
Bleeding disorders due to platelet dysfunction are a common hematologic complication affecting patients, and typically present with mucocutaneous bleeding or hemorrhage. An inherited platelet disorder should be suspected in individuals with a suggestive family history and no identified secondary causes of bleeding.
Frederick D, Tsai +1 more
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Bleeding disorders due to platelet dysfunction are a common hematologic complication affecting patients, and typically present with mucocutaneous bleeding or hemorrhage. An inherited platelet disorder should be suspected in individuals with a suggestive family history and no identified secondary causes of bleeding.
Frederick D, Tsai +1 more
openaire +2 more sources
Clinica Chimica Acta, 2008
Inherited platelet disorders are a rare, but probably underdiagnosed, cause of symptomatic bleeding. They are characterized by abnormalities of platelet number (inherited thrombocytopenias), function (inherited disorders of platelet function) or both.
M. Franchini +5 more
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Inherited platelet disorders are a rare, but probably underdiagnosed, cause of symptomatic bleeding. They are characterized by abnormalities of platelet number (inherited thrombocytopenias), function (inherited disorders of platelet function) or both.
M. Franchini +5 more
openaire +3 more sources
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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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
openaire +2 more sources
Inherited disorders of desmosomes
Australasian Journal of Dermatology, 2005SUMMARYDesmosomes are highly organized intercellular junctions that provide mechanical integrity to tissues by anchoring intermediate filaments to sites of strong adhesion. These cell–cell adhesion junctions are found in skin, heart, lymph nodes and meninges.
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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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