Results 261 to 270 of about 9,256,185 (298)
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Nature Reviews Genetics, 2005
Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research ...
Ropers, H., Hamel, B.
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Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research ...
Ropers, H., Hamel, B.
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X‐linked olivopontocerebellar atrophy
Clinical Genetics, 1989We present a kindred with a relatively pure cerebellar degeneration that demonstrates X‐linked recessive inheritance. The unique clinical picture of affected patients in our kindred is characterized by an infantile onset of ataxia; very slow rate of progression; normal strength, reflexes, and sensation; and cerebellar degeneration with involvement of ...
R, Lutz +3 more
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Neutropenia in X-Linked Agammaglobulinemia
Clinical Immunology and Immunopathology, 1996X-linked agammaglobulinemia (XLA) is usually considered a disorder of B cell development; however, the gene that is defective in XLA encodes a cytoplasmic tyrosine kinase called Btk, that is expressed throughout myeloid as well as B cell differentiation. A review of medical records of patients in whom mutations in Btk had been identified indicated that
J E, Farrar, J, Rohrer, M E, Conley
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X-linked Juvenile Retinoschisis
2018X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity.
Stephen H, Tsang, Tarun, Sharma
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Lovastatin for X-Linked Adrenoleukodystrophy
New England Journal of Medicine, 1998To the Editor: X-linked adrenoleukodystrophy is an inherited recessive disorder characterized by a defect in peroxisomal β-oxidation of very-long-chain fatty acids (those with more than 22 carbon atoms) and secondary neuroinflammatory damage.1,2 Even though the accumulation of very-long-chain fatty acids in plasma and tissues occurs early, the ...
I, Singh, M, Khan, L, Key, S, Pai
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The pattern of inheritance of X‐linked traits is not dominant or recessive, just X‐linked
Acta Paediatrica, 2006AbstractOur modern concepts of genetic inheritance originated nearly a century ago. Early concepts of dominant and recessive inheritance were developed in insects and were subsequently applied to sex‐linked inheritance in mammals. Years of clinical experience, however, suggest that the modern‐day rules for X‐linked dominant and recessive diseases do ...
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Annals of the New York Academy of Sciences, 1996
Aubourg, Patrick, Mandel, Jean-Louis
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Aubourg, Patrick, Mandel, Jean-Louis
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2018
The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients usually present with reduced vision, photophobia, nystagmus, and strabismus. Many patients have problem in perceiving depth (stereoscopic vision).
Stephen H, Tsang, Tarun, Sharma
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The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients usually present with reduced vision, photophobia, nystagmus, and strabismus. Many patients have problem in perceiving depth (stereoscopic vision).
Stephen H, Tsang, Tarun, Sharma
openaire +2 more sources