Results 251 to 260 of about 9,256,185 (298)
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2018
Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. Its prevalence is about 1 in 50,000-100,000 people.
Stephen H, Tsang, Tarun, Sharma
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Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. Its prevalence is about 1 in 50,000-100,000 people.
Stephen H, Tsang, Tarun, Sharma
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The Indian Journal of Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti, Suri, Amit, Rawat, Surjit, Singh
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X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti, Suri, Amit, Rawat, Surjit, Singh
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Nature Clinical Practice Neurology, 2007
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males.
Hugo W, Moser +2 more
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X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males.
Hugo W, Moser +2 more
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Current Opinion in Genetics & Development, 1994
In the past year, researchers have identified the genes responsible for X-linked severe combined immunodeficiency (encoding a cytokine receptor protein), X-linked agammaglobulinemia (encoding a cytoplasmic tyrosine kinase) and X-linked hyper IgM syndrome (encoding the ligand for CD40).
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In the past year, researchers have identified the genes responsible for X-linked severe combined immunodeficiency (encoding a cytokine receptor protein), X-linked agammaglobulinemia (encoding a cytoplasmic tyrosine kinase) and X-linked hyper IgM syndrome (encoding the ligand for CD40).
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2018
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome.
Ginevra, Zanni, Enrico, Bertini
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X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome.
Ginevra, Zanni, Enrico, Bertini
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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
Science, 1993Mice that bear the X-linked immunodeficiency ( xid ) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (
J D, Thomas +5 more
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2018
X-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (RP). It accounts for about 6-20% of all RP cases, including about 10% in the United States and 25% in England.
Stephen H, Tsang, Tarun, Sharma
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X-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (RP). It accounts for about 6-20% of all RP cases, including about 10% in the United States and 25% in England.
Stephen H, Tsang, Tarun, Sharma
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Annals of Neurology, 1977
AbstractX‐linked muscular dystrophy has been separated into two types that are generally considered to be distinct entities. We have investigated three families with X‐linked muscular dystrophy who demonstrate remarkable intrafamilial variability. In one family 2 brothers with a benign type had a maternal uncle who was affected with the Duchenne type ...
T, Furukawa, J B, Peter
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AbstractX‐linked muscular dystrophy has been separated into two types that are generally considered to be distinct entities. We have investigated three families with X‐linked muscular dystrophy who demonstrate remarkable intrafamilial variability. In one family 2 brothers with a benign type had a maternal uncle who was affected with the Duchenne type ...
T, Furukawa, J B, Peter
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1993
Advances in the molecular biology of diseases of the immune system are rapidly unfolding in many areas Immunologists have become aware that many of the rare congenital immunodeficiency patients they encounter have specific genetic defects, many of them X-linked.
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Advances in the molecular biology of diseases of the immune system are rapidly unfolding in many areas Immunologists have become aware that many of the rare congenital immunodeficiency patients they encounter have specific genetic defects, many of them X-linked.
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Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. Its prevalence is about 1 in 50,000-100,000 people.
Ashley, Zhou +3 more
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Ashley, Zhou +3 more
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