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X-Linked Developmental Defects of Myelination: From Mouse Mutants to Human Genetic Diseases
The Neuroscientist, 1996Molecular cloning of the major myelin-specific genes and a systematic analysis of mouse mutants have led to the identification of molecular defects in human genetic diseases that affect myelination. In the central nervous system, Pelizaeus-Merzbacher disease (PMD) and X-linked spastic paraplegia (SPG-2) are clinically distinct with respect to the ...
K. Nave, O. Boespflug-Tanguy
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Genetic Counselling in X-Linked Eye Diseases
Acta geneticae medicae et gemellologiae, 1973SummaryThe fundamental principles of genetic counselling in X-linked heredity are reviewed. As many as 18 X-linked eye diseases are described and discussed. These include diseases of the eye-ball, lens, retina, choroid, optic nerve, ocular muscles, and pigmentation, as well as the ocular manifestations of systemic skin or metabolic diseases.
J. François +3 more
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Molecular Genetics of X-Linked Charcot-Marie-Tooth Disease
NeuroMolecular Medicine, 2006The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive distal muscle atrophy and weakness, areflexia, and variable sensory abnormalities.
Kleopas A, Kleopa, Steven S, Scherer
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X-linked lymphoproliferative disease: Genetic lesions and clinical consequences
Current Allergy and Asthma Reports, 2002X-linked lymphoproliferative disorder (XLP) was first described almost 30 years ago; remarkably, the three major manifestations of XLP, fulminant infectious mononucleosis (FIM), lymphoma, and dysgammaglobulinemia, are all described in the report of the initial kindred.
Andrew J, MacGinnitie, Raif, Geha
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Progress in Retinal and Eye Research, 2023
Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss.
Sena A. Gocuk +3 more
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Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss.
Sena A. Gocuk +3 more
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Proof of genetic heterogeneity in X-linked Charcot–Marie–Tooth disease
Neurology, 2006To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an unusual phenotype that is different in some aspects from classic CMTX1.We tested CMT families consistent with X-linked inheritance for GJB1 mutations.
I G, Huttner +4 more
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X‐linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease
BioEssays, 1996AbstractX‐linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B Iymphocytes and plasma cells. The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk.
P T, Mattsson, M, Vihinen, C I, Smith
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Retinitis pigmentosa: genetic mapping in X‐linked and autosomal forms of the disease
Clinical Genetics, 1990Retinitis pigmentosa (RP) is an hereditary degenerative disease of the retina and a major cause of visual impairment, prevalence estimates ranging from 1 in 3000 to 1 in 7000. The condition may segregate as an autosomal dominant, autosomal recessive or an X‐linked recessive trait and it may also occur on a sporadic basis in up to 50% of cases.
P, Humphries +3 more
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Preimplantation genetic diagnosis for HLA typing in a case of X‐linked chronic granulomatous disease
Acta Obstetricia et Gynecologica Scandinavica, 2012AbstractBone marrow transplantation may be life saving in cases of hematopoietic disease, severe congenital immunodeficiency or malignancy. An HLA‐matching sibling often gives the best success, but this may not be an option, nor may an HLA‐matching unrelated donor be found.
Degn, Birte +4 more
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European Journal of Pediatrics, 1994
Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease.
V, Schuster +6 more
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Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease.
V, Schuster +6 more
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