Results 241 to 250 of about 388,137 (254)

Two variants in theKITgene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey

Animal Genetics, 2015
White spotting phenotypes have been intensively studied in horses, and although similar phenotypes occur in the donkey, little is known about the molecular genetics underlying these patterns in donkeys. White spotting in donkeys can range from only a few white areas to almost complete depigmentation and is characterised by a loss of pigmentation ...
B. Haase, S. Rieder, T. Leeb
openaire   +3 more sources

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation

Neurology, 2010
The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation.We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes.
Lam, CW, Wong, KS, Yip, SF, Leung, TW, Liu, HSY, Chan, NPH, Chan, LC, Fan, YH, Siu, DYW, Lam, WWM, Chan, TL   +10 more
openaire   +5 more sources

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

Neurology, 2006
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
FEDERICO, ANTONIO, SCALI O, STROMILLO ML, DI PERRI C, BIANCHI S, SICURELLI F, DE STEFANO, NICOLA, MALANDRINI, ALESSANDRO, DOTTI, MARIA   +8 more
openaire   +4 more sources

White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations

Neurobiology of Aging, 2016
No study but one has suggested the presence of white matter hyperintensities (WMHs) in frontotemporal dementia (FTD), limited to 4 cases carrying pathogenic Granulin (GRN) gene mutations. We investigated the presence of WMHs in a cohort of 14 FTD patients with pathogenic GRN mutations (GRN+), 28 patients without GRN mutations (GRN-) and 18 healthy ...
Paternicò, D, Premi, E, Gazzina, S, Cosseddu, M, Alberici, A, Archetti, S, Cotelli, Ms, Micheli, A, Turla, M, GASPAROTTI, Roberto, PADOVANI, Alessandro, BORRONI, Barbara   +11 more
openaire   +4 more sources

Early white matter involvement in an infant carrying a novel mutation in ACOX1

European Journal of Paediatric Neurology, 2016
We describe the clinical findings and MRI features observed in a child who presented a two-step disease course: he was hypotonic at birth and soon afterwards developed seizures, which were partially responsive to treatment; he subsequently showed developmental delay and a progressive neurological deterioration with the onset of severe seizures at ...
Masson, Riccardo, GUERRA, SILVIA, CERINI, ROBERTO, Pensato, V., Gellera, C., Taroni, F., SIMONATI, Alessandro   +6 more
openaire   +4 more sources

The Belt mutation in pigs is an allele at the Dominant white (I/KIT) locus

Mammalian Genome, 1999
A white belt is a common coat color phenotype in pigs and is determined by a dominant allele (Be). Here we present the result of a genome scan performed using a Hampshire (Belt)/Pietrain (non-Belt) backcross segregating for the white belt trait. We demonstrate that Belt maps to the centromeric region of pig Chromosome (Chr) 8 harboring the Dominant ...
Leif Andersson, Elisabetta Giuffra, A. E. Day, Holger Looft, Richard Wales, G. Evans, A. Törnsten, Graham Plastow   +7 more
openaire   +3 more sources

A small tandem duplication is responsible for the unstable white-ivory mutation in drosophila

Cell, 1982
The white-ivory (wi) mutation, an unstable allele of the white locus in Drosophila, reverts to wild-type at frequencies of 5 X 10(-5) in homozygous females, and 5 X 10(-6) in males and deletion heterozygous females. We show by molecular cloning and Southern blot analysis of DNA from wi flies that a 2.9 kilobase tandem duplication within the white locus
Roger E. Karess, Gerald M. Rubin
openaire   +3 more sources

A RED-TO-WHITE MUTATION IN MAIZE [PDF]

Journal of Heredity, 1929
openaire   +1 more source

Validation of a candidate causative mutation for white spotting in donkeys

Animal Genetics, 2016
Bianca Haase, E. G. Cothran, David J. Fenn, Natasha A. Hamilton, Terje Raudsepp   +4 more
openaire   +3 more sources

Micromelia—A Lethal Mutation in White Pekin Ducks

Journal of Heredity, 1966
openaire   +3 more sources