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Spontaneous Mutation of Hemoglobin Lufkin in a White Boy
Journal of Pediatric Hematology/Oncology, 2009A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also ...
Paul J. Kurtin +5 more
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Migraine with aura and white matter abnormalities: Notch3 mutation [PDF]
Neurology, 2000 The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant ...
CERONI, MAURO +11 more
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Vanishing White Matter Disease with Mutations in EIF2B5 Gene
The Indian Journal of Pediatrics, 2014An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5;
Varinder Singh +3 more
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Mutations induced at the white and vermilion loci in Drosophila melanogaster
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 1990The white and vermilion loci in D. melanogaster were selected as target genes for the study of the mutational specificity of ionizing radiation and N-ethyl-N-nitrosourea (ENU) in a whole organism. Analysis of X-ray- and neutron-induced white mutants by a combination of genetic and molecular techniques showed that ionizing radiation induces primarily ...
J.C.J. Eeken +3 more
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Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis [PDF]
The Indian Journal of Pediatrics, 2014 Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. Pycnodysostosis can present with both skeletal and extraskeletal features. The index patient presented with cardinal features of short stature, dental and digital anomalies with history of multiple fractures.
Olga Messina-Baas +7 more
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Microstructural white matter changes in carriers of the DYT1 gene mutation
Annals of Neurology, 2004AbstractWe tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex. We used diffusion tensor magnetic resonance imaging (DTI) to assess the microstructure of white matter pathways in mutation carriers and control subjects.
Phoebe G. Spetsieris +6 more
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White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
Neuromuscular Disorders, 2009Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients ...
BIANCHERI R +6 more
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