Results 291 to 300 of about 731,846 (342)

PTEN hamartoma tumor syndrome in children: Identification of recurrent mutations, an unpublished variant and a case of cerebral cortical dysplasia co-occurring with pleuropulmonary blastoma. Review of PTEN-related malformations of cortical development

Csenki M, Kalmár T, Zombori T, Kuthi L, Vedelek V, Gábor MK, Kóbor J, Sztriha L.   +7 more
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Spontaneous Mutation of Hemoglobin Lufkin in a White Boy

Journal of Pediatric Hematology/Oncology, 2009
A 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 ...
Peihong, Hsu, Ding Wen, Wu, Ahna M, Blutreich, Paul J, Kurtin, James D, Hoyer, Gungor, Karayalcin   +5 more
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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;
Suvasini, Sharma, Mohemmed, Ajij, Varinder, Singh, Satinder, Aneja   +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 ...
A, Pastink, C, Vreeken, E W, Vogel, J C, Eeken   +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.
Maren, Carbon, Peter B, Kingsley, Sherwin, Su, Gwenn S, Smith, Phoebe, Spetsieris, Susan, Bressman, David, Eidelberg   +6 more
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The Anopheles albimanus white gene: molecular characterization of the gene and a spontaneous white gene mutation

Genetica, 1997
We have cloned and characterized the white gene of Anopheles albimanus. Comparison of the deduced amino acid sequence of this white gene with its homologs from six species of Diptera show that the An. albimanus gene is most similar to the white gene of An. gambiae (92% identity). A spontaneous white-eyed mutant An.
Z, Ke, M Q, Benedict, A J, Cornel, N J, Besansky, F H, Collins   +4 more
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Insertional DNA and spontaneous mutation at the white locus in Drosophila simulans

Molecular and General Genetics MGG, 1987
A large body of data on molecular analyses of several multiallelic loci in Drosophila melanogaster has demonstrated a high incidence of mobile DNA element insertions among spontaneous mutations. In the sibling species D. simulans, the dispersed, middle repetitive, nomadic sequences are reduced to about one-seventh that of its sibling species (Dowsett ...
Y H, Inoue, M T, Yamamoto
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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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Migraine with aura and white matter abnormalities: Notch3 mutation

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, POLONI TE, TONIETTI S, FABOZZI D, UGGETTI C, FREDIANI F, SIMONETTI F, MALASPINA A, ALIMONTI D, CELANO M, FERRARI M, CARRERA P.   +11 more
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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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