Results 301 to 310 of about 694,722 (327)

Vanishing White Matter Disease with Mutations in EIF2B5 Gene

The Indian Journal of Pediatrics, 2014
An 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, Satinder Aneja, Suvasini Sharma, Mohemmed Ajij   +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, 1990
The 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, Albert Pastink, C. Vreeken, Ekkehart W. Vogel   +3 more
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Microstructural white matter changes in carriers of the DYT1 gene mutation

Annals of Neurology, 2004
AbstractWe 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, Susan B. Bressman, Peter B. Kingsley, Gwenn S. Smith, David Eidelberg, Maren Carbon, Sherwin Su   +6 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, Manisha Goyal, Luz María González-Huerta, Vicky Gautam, Seema Kapoor, Sergio A. Cuevas-Covarrubias, Ankur Singh, Gaurav Pradhan   +7 more
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White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Neuromuscular Disorders, 2009
Hereditary 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, CICCOLELLA M, ROSSI A, TESSA A, CASSANDRINI D, MINETTI, CARLO, SANTORELLI FM   +6 more
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White and grey matter abnormalities in patients withSPG11mutations

Journal of Neurology, Neurosurgery & Psychiatry, 2012
Mutations in SPG11 are the most frequent known cause of autosomal recessive hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but little is known about damage to other structures in the CNS.To evaluate in vivo cerebral damage in patients with SPG11 mutations.5 patients and 15 age and sex matched healthy controls ...
Fabricio Pereira, Camila M. Lopes-Ramos, Anelyssa D'Abreu, Fernando Cendes, Marcondes C. França, Clarissa L. Yasuda, Iscia Lopes-Cendes, Madalena Rosa   +7 more
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The spectrum of mutations for the diagnosis of vanishing white matter disease

Neurological Sciences, 2006
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation ...
SCALI O., DI PERRI C., FEDERICO A.
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White skin: a Z-linked recessive mutation in the fowl

Journal of Heredity, 1981
A 6-week-old pullet was noted with white shanks and beak from a strain of SC White Leghorns, pedigree-bred as a closed flock since 1948. Mating of the mutant to males with yellow skin produced only yellow skinned progeny. The F2 progeny consisted of equal numbers of yellow or white shanked pullets and yellow shanked sons.
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White Band, a New Spotting Mutation in the Syrian Hamster

Nature, 1960
THE first mutation reported in the Syrian hamster, Mesocricetus auratus, was a recessive type of white spotting which has been designated as piebald1. The new mutation to be described here differs from piebald in two respects : (1) the mutation is inherited as a dominant to normal pigmentation ; and (2) the characteristic spotting pattern produced by ...
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The influence of Vanishing White Matter mutations on oligodendrocyte differentiation

Tijdschrift voor Kindergeneeskunde, 2013
s ingediend voor het Amsterdam Kindersymposium 2013 35 The influence of Vanishing White Matter mutations on oligodendrocyte differentiation S. Dooves (1,2), J.A. van der Kreeke (1,2), P. Leferink (1,2), J.G. Jacobs (1,2), M.S. van der Knaap (1), V.M.
J.G. Jacobs, J.A. van der Kreeke, Prisca S. Leferink, Stephanie Dooves, M.S. van der Knaap, Vivi M. Heine   +5 more
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