Results 301 to 310 of about 869,931 (335)
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PM&R, 2013
AbstractThe large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician ...
Robert, Rinaldi, Atul, Patel
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AbstractThe large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician ...
Robert, Rinaldi, Atul, Patel
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Inherited Leukoencephalopathiesa
Seminars in Neurology, 2012Abstract Leukoencephalopathies are disorders that selectively involve the white matter of the brain. Acquired causes of leukoencephalopathy include inflammatory, infectious, vascular, neoplastic, and toxic disorders. Hereditary leukoencephalopathies encompass conditions characterized by progressive destruction or loss of previously ...
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Journal of Pharmacy Practice, 2014
Thrombophilia alters normal hemostasis, shifting the balance in favor of thrombus formation. Inherited conditions include factor V Leiden (FVL), prothrombin G20210A mutation, deficiencies in natural anticoagulants (antithrombin [AT], protein C, and protein S), hyperhomocysteinemia, and elevations in clotting factors (factors VIII and XI). Although FVL
Haley M, Phillippe +4 more
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Thrombophilia alters normal hemostasis, shifting the balance in favor of thrombus formation. Inherited conditions include factor V Leiden (FVL), prothrombin G20210A mutation, deficiencies in natural anticoagulants (antithrombin [AT], protein C, and protein S), hyperhomocysteinemia, and elevations in clotting factors (factors VIII and XI). Although FVL
Haley M, Phillippe +4 more
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Clinical Genetics, 2002
Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late‐onset, generalized, localized, inherited or acquired.
D, Garcia-Cruz, L E, Figuera, J M, Cantu
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Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late‐onset, generalized, localized, inherited or acquired.
D, Garcia-Cruz, L E, Figuera, J M, Cantu
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Modern Intellectual History, 2010
B. R. Ambedkar (1891–1956), the radical Indian anti-caste thinker, left unfinished a critical corpus of works on “Revolution and Counter-Revolution in Ancient India”, a fragment of which was provisionally titled “Essays on the Bhagavad Gita”. This essay engages with that corpus, situating Ambedkar's encounter with the Gita within a much broader ...
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B. R. Ambedkar (1891–1956), the radical Indian anti-caste thinker, left unfinished a critical corpus of works on “Revolution and Counter-Revolution in Ancient India”, a fragment of which was provisionally titled “Essays on the Bhagavad Gita”. This essay engages with that corpus, situating Ambedkar's encounter with the Gita within a much broader ...
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Neurologic Clinics, 2002
Dementia, defined as progressive cognitive decline, is a feature of a wide variety of genetic disorders. For example, a search of "dementia" in the Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim) reveals 162 entries. Therefore this article cannot be encyclopedic and will be necessarily restricted to more prevalent or illustrative ...
Peter, Hedera, R Scott, Turner
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Dementia, defined as progressive cognitive decline, is a feature of a wide variety of genetic disorders. For example, a search of "dementia" in the Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim) reveals 162 entries. Therefore this article cannot be encyclopedic and will be necessarily restricted to more prevalent or illustrative ...
Peter, Hedera, R Scott, Turner
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Critical Reviews in Clinical Laboratory Sciences, 2006
Inherited thrombophilia can be defined as a genetically determined predisposition to the development of thromboembolic complications. Since the discovery of activated protein C resistance in 1993, several additional disorders have been described and, at present, it is possible to identify an inherited predisposition in about 60 to 70% of patients with ...
Franchini M. +4 more
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Inherited thrombophilia can be defined as a genetically determined predisposition to the development of thromboembolic complications. Since the discovery of activated protein C resistance in 1993, several additional disorders have been described and, at present, it is possible to identify an inherited predisposition in about 60 to 70% of patients with ...
Franchini M. +4 more
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Seminars in Neurology, 2019
AbstractThe inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease.
Antonia S, Carroll +4 more
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AbstractThe inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease.
Antonia S, Carroll +4 more
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Neurologic Clinics, 2002
Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies.
Kleopas A, Kleopa, Steven S, Scherer
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Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies.
Kleopas A, Kleopa, Steven S, Scherer
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2006
Genetic inheritance in higher organisms normally refers to the transmission of information from one generation to the next. Nevertheless, there is also inheritance in somatic cells, characterised by the phenotypic stability of differentiated cells that divide (such as fibroblasts and lymphocytes), and also mitosis of stem line cells, which gives rise ...
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Genetic inheritance in higher organisms normally refers to the transmission of information from one generation to the next. Nevertheless, there is also inheritance in somatic cells, characterised by the phenotypic stability of differentiated cells that divide (such as fibroblasts and lymphocytes), and also mitosis of stem line cells, which gives rise ...
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