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Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X-Linked Retinoschisis: The AXIS Trial. [PDF]
Clin Exp OphthalmolHensman J +15 more
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American Journal of Medical Genetics, 1987
AbstractWe report on a family with X‐linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been “nonspecific” mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene ...
Patrick J. Willems +5 more
openaire +3 more sources
AbstractWe report on a family with X‐linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been “nonspecific” mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene ...
Patrick J. Willems +5 more
openaire +3 more sources
Clinical Reviews in Allergy & Immunology, 2000
The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
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The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
openaire +2 more sources
Current Allergy and Asthma Reports, 2004
Recent advances in molecular genetics have allowed identification of at least seven genes involved in X-linked immunodeficiencies. This has resulted not only in improved diagnostic possibilities but also in a better understanding of the pathophysiology of these disorders.
Hans D, Ochs, Luigi D, Notarangelo
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Recent advances in molecular genetics have allowed identification of at least seven genes involved in X-linked immunodeficiencies. This has resulted not only in improved diagnostic possibilities but also in a better understanding of the pathophysiology of these disorders.
Hans D, Ochs, Luigi D, Notarangelo
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British Journal of Dermatology, 1977
In the period 1962-1974, 36 patients with X-linked ichthyosis, belonging to 22 families, were selected for study. The frequency of this genodermatosis is higher in the province of Salamanca than in other countries. In most of the cases, the lesions were apparent at birth or shortly after.
P, De Unamuno +2 more
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In the period 1962-1974, 36 patients with X-linked ichthyosis, belonging to 22 families, were selected for study. The frequency of this genodermatosis is higher in the province of Salamanca than in other countries. In most of the cases, the lesions were apparent at birth or shortly after.
P, De Unamuno +2 more
openaire +2 more sources