Results 161 to 170 of about 269 (206)
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2001
Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. A sun-sensitive, erythematous facial skin lesion, an excess of well-demarcated hyper- and hypopigmented skin lesions located anywhere on the body, and increased numbers of bacterial infections due to immunodeficiency are ...
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Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. A sun-sensitive, erythematous facial skin lesion, an excess of well-demarcated hyper- and hypopigmented skin lesions located anywhere on the body, and increased numbers of bacterial infections due to immunodeficiency are ...
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Archives of Dermatology, 1966
Bloom's syndrome is a genodermatosis characterized by a telangiectatic erythema of the face beginning in infancy, sensitivity to sunlight, small stature, and a low birth weight after a full-term gestation. A structural chromosome abnormality and an increased incidence of leukemia are associated.
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Bloom's syndrome is a genodermatosis characterized by a telangiectatic erythema of the face beginning in infancy, sensitivity to sunlight, small stature, and a low birth weight after a full-term gestation. A structural chromosome abnormality and an increased incidence of leukemia are associated.
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Irish Journal of Medical Science, 1983
A girl with Bloom's syndrome is reported—the first case reported from Ireland. The outcome was death from acute myelomonoblastic leukaemia. The relationship of this syndrome with malignancy is discussed.
D J, Manning +3 more
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A girl with Bloom's syndrome is reported—the first case reported from Ireland. The outcome was death from acute myelomonoblastic leukaemia. The relationship of this syndrome with malignancy is discussed.
D J, Manning +3 more
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Dermatologic Clinics, 1995
D1Z2 is a highly polymorphic DNA locus composed of a tandem of repetitive units. Its molecular constitution has been examined in 61 clonal cell lines selected at random from two lymphoblastoid cell lines (LCLs), each of which had been proliferating in vitro for several hundred days.
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D1Z2 is a highly polymorphic DNA locus composed of a tandem of repetitive units. Its molecular constitution has been examined in 61 clonal cell lines selected at random from two lymphoblastoid cell lines (LCLs), each of which had been proliferating in vitro for several hundred days.
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Cytogenetics of Bloom's syndrome
Cancer Genetics and Cytogenetics, 1986The quantitative aspects of Bloom's syndrome cytogenetics are reviewed. The most characteristic feature is an increased rate of homologous chromatid exchange, both sister chromatid exchange and mitotic crossing-over. Other phenomena are a tendency of somatic cells to fuse, an increased rate of chromosome breaks, often with sister chromatid reunion ...
E M, Kuhn, E, Therman
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American Journal of Diseases of Children, 1984
We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice.
M, Vanderschueren-Lodeweyckx +4 more
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We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice.
M, Vanderschueren-Lodeweyckx +4 more
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2013
Bloom’s syndrome (BSyn) is a rare recessively inherited form of human dwarfness distinguished clinically from other forms by four features: roughly normal proportions of the trunk and limbs, but a slightly disproportionally small cranium, a striking paucity of subcutaneous fat tissue early in life, and a sun-sensitive erythema of the face.
J. German, M. Sanz
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Bloom’s syndrome (BSyn) is a rare recessively inherited form of human dwarfness distinguished clinically from other forms by four features: roughly normal proportions of the trunk and limbs, but a slightly disproportionally small cranium, a striking paucity of subcutaneous fat tissue early in life, and a sun-sensitive erythema of the face.
J. German, M. Sanz
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Ryoikibetsu shokogun shirizu, 2000
Bloom syndrome (BS) is a rare genetic disorder characterized by small body size, sunsensitivity, immunodeficiency and a high predisposition to various types of cancer. BLM was identified as the causative gene for BS, and BLM protein is homologous to DNA helicase. In 1995 the causative gene for BS was identified using somatic crossover point mapping and
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Bloom syndrome (BS) is a rare genetic disorder characterized by small body size, sunsensitivity, immunodeficiency and a high predisposition to various types of cancer. BLM was identified as the causative gene for BS, and BLM protein is homologous to DNA helicase. In 1995 the causative gene for BS was identified using somatic crossover point mapping and
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Archives of Pediatrics & Adolescent Medicine, 1985
Sir .—We read with interest the article by Vanderschueren-Lodeweyckx et al 1 on the pitfalls in the diagnosis of Bloom's syndrome. We have also seen a child whose condition was initially diagnosed as Russell-Silver dwarfism; this child's condition later turned out to be Bloom's syndrome. Patient Report .—An 18-month-old female infant was born at term,
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Sir .—We read with interest the article by Vanderschueren-Lodeweyckx et al 1 on the pitfalls in the diagnosis of Bloom's syndrome. We have also seen a child whose condition was initially diagnosed as Russell-Silver dwarfism; this child's condition later turned out to be Bloom's syndrome. Patient Report .—An 18-month-old female infant was born at term,
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