4 Result(s)
within
Mauro Bozzola
Biomedicine
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Article
Open AccessIdentification of novel genetic variants associated with short stature in a Baka Pygmies population
Human growth is a complex trait determined by genetic factors in combination with external stimuli, including environment, nutrition and hormonal status. In the past, several genome-wide association studies (G...
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Article
Open AccessA 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.
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Article
Open AccessSevere growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion
We report on a male child ascertained at 4.8 years of age with severe growth failure, growth hormone (GH) deficiency, psychomotor delay with prevalent speech impairment, and a distinct phenotype. An evaluation...
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Article
Immunization with Haemophilus influenzae Type b Conjugate Vaccine in Children Given Bone Marrow Transplantation: Comparison with Healthy Age-Matched Controls
Forty-seven patients (age range, 7 months–18 years)with malignant (38 cases) and nonmalignant (9 cases)disorders given an allogeneic or an autologous bone marrowtransplantation (BMT) were immunized with Haemophil...
