相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Widespread monoallelic expression on human autosomes
Alexander Gimelbrant et al.
SCIENCE (2007)
Vitreoretinal morphology in active ocular toxoplasmosis:: a prospective study by optical coherence tomography
Juliana L. Orefice et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2007)
Toxoplasma co-opts host gene expression by injection of a polymorphic kinase homologue
J. P. J. Saeij et al.
NATURE (2007)
Peg1/Mest in obese adipose tissue is expressed from the paternal allele in an isoform-specific manner
Yasutomi Kamei et al.
FEBS LETTERS (2007)
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
Haiyan Zhou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: Vitreoretinal assessment coupled with exon sequencing for screening COL2A1
Allan J. Richards et al.
HUMAN MUTATION (2006)
Outcome of treatment for congenital toxoplasmosis, 1981-2004: The national collaborative Chicago-based, congenital toxoplasmosis study
R McLeod et al.
CLINICAL INFECTIOUS DISEASES (2006)
Ocular manifestations in congenital toxoplasmosis
L Kodjikian et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2006)
Host and parasite-derived IKK activities direct distinct temporal phases of NF-κB activation and target gene expression following Toxoplasma gondii infection
RE Molestina et al.
JOURNAL OF CELL SCIENCE (2005)
Association between prenatal treatment and clinical manifestations of congenital toxoplasmosis in infancy: A cohort study in 13 European centres
L Gras et al.
ACTA PAEDIATRICA (2005)
Stickler syndrome: Clinical characteristics and diagnostic criteria
PS Rose et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Distinct spatio-temporal expression of ABCA and ABCG transporters in the developing and adult mouse brain
M Tachikawa et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Matlnspector and beyond: promoter analysis based on transcription factor binding sites
K Cartharius et al.
BIOINFORMATICS (2005)
Epigenetic status of human embryonic stem cells
PJ Rugg-Gunn et al.
NATURE GENETICS (2005)
Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain
J Bhongsatiern et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Detection of a novel parasite kinase activity at the Toxoplasma gondii parasitophorous vacuole membrane capable of phosphorylating host IκBα
RE Molestina et al.
CELLULAR MICROBIOLOGY (2005)
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment
AJ Richards et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR)
S Beharry et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Collagens and collagen-related matrix components in the human and mouse eye
T Ihanamäki et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2004)
Prognostic factors for the long-term development of ocular lesions in 327 children with congenital toxoplasmosis
C Binquet et al.
EPIDEMIOLOGY AND INFECTION (2003)
Identification of novel imprinted genes in a genome-wide screen for maternal methylation
RJ Smith et al.
GENOME RESEARCH (2003)
DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed
MP Hitchins et al.
MAMMALIAN GENOME (2002)
The ABCA4 gene in autosomal recessive cone-rod dystrophies
D Ducroq et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: Application to HLA in type 1 diabetes
HJ Cordell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Age-dependent changes in the expression of matrix components in the mouse eye
T Ihanamäki et al.
EXPERIMENTAL EYE RESEARCH (2001)
The family based association test method: strategies for studying general genotype-phenotype associations
S Horvath et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Structural macromolecules and supramolecular organisation of the vitreous gel
PN Bishop
PROGRESS IN RETINAL AND EYE RESEARCH (2000)
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
F Krämer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Testing for linkage disequilibrium, maternal effects, and imprinting with (ln)complete case-parent triads, by use of the computer program LEM
EJCG van den Oord et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)