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。Reassessment of causality ofABCC6missense variants associated with pseudoxanthoma elasticum based on Sherloc
Shana Verschuere et al.
GENETICS IN MEDICINE (2021)
Genotype-phenotype correlation in pseudoxanthoma elasticum
Jonas W. Bartstra et al.
ATHEROSCLEROSIS (2021)
Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients
Federica Boraldi et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum
Vittoria Murro et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2021)
The Natural History of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum
Sara Risseeuw et al.
OPHTHALMOLOGY SCIENCE (2021)
Vision Loss in Optic Disc Drusen Correlates With Increased Macular Vessel Diameter and Flux and Reduced Peripapillary Vascular Density
Yan Yan et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2020)
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
Peter Charbel Issa et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2020)
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum
Vittoria Murro et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2020)
The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum
Sara Risseeuw et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2020)
Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings
Federica Boraldi et al.
FRONTIERS IN MEDICINE (2020)
A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE
V Pipelart et al.
JOURNAL FRANCAIS D OPHTALMOLOGIE (2019)
Coquille d'oeuf in young patients affected with Pseudoxantoma elasticum
Vittoria Murro et al.
OPHTHALMIC GENETICS (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools
Huaiyu Mi et al.
NUCLEIC ACIDS RESEARCH (2019)
Peripapillary comet lesions and comet rain in PXE-related retinopathy
Vittoria Murro et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2018)
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum
Anne Legrand et al.
GENETICS IN MEDICINE (2017)
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum
Akira Iwanaga et al.
JOURNAL OF DERMATOLOGY (2017)
Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature
Frans Kauw et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)
Ultra-Widefield Imaging in Patients with Angioid Streaks Secondary to Pseudoxanthoma Elasticum
Alessandro Marchese et al.
OPHTHALMOLOGY RETINA (2017)
Cardiovascular disease in Europe: epidemiological update 2016
Nick Townsend et al.
EUROPEAN HEART JOURNAL (2016)
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders
Qiaoli Li et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2016)
Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum
Martin Gliem et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations
Liang Jin et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2015)
PEAU D'ORANGE AND ANGIOID STREAKS Manifestations of Bruch Membrane Pathology
Richard F. Spaide
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2015)
Choroidal Changes Associated With Bruch Membrane Pathology in Pseudoxanthoma Elasticum
Martin Gliem et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2014)
Global stroke statistics
Amanda G. Thrift et al.
INTERNATIONAL JOURNAL OF STROKE (2014)
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
Federica Boraldi et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2014)
Geographic Chorioretinal Atrophy in Pseudoxanthoma Elasticum
Scott D. Schoenberger et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2013)
An update on the ocular phenotype in patients with pseudoxanthoma elasticum
Martin Gliem et al.
Frontiers in Genetics (2013)
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Yvonne Nitschke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Severe and Diffuse Arterial Lesions in a Patient With Pseudoxanthoma Elasticum
Stephane Zuily et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Pseudoxanthoma elasticum, ocular manifestations, complications and treatment
Ilias Georgalas et al.
CLINICAL AND EXPERIMENTAL OPTOMETRY (2011)
Pseudoxanthoma Elasticum: A Streamlined, Ethnicity-based Mutation Detection Strategy
Jennifer LaRusso et al.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE (2010)
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Laura M. F. Costrop et al.
JOURNAL OF HUMAN GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Centrifugal Fundus Abnormalities in Pseudoxanthoma Elasticum
Peter Charbel Issa et al.
OPHTHALMOLOGY (2010)
The dynamic nature of Bruch's membrane
J. C. Booij et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2010)
XXVIII Italian Society for the Study of Connective Tissues (SISC) Meeting, Pavia, Italy, 6-7 November 2008 Abstracts
[Anonymous]
CONNECTIVE TISSUE RESEARCH (2009)
Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes
Qiaoli Li et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2009)
Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches
Robert P. Finger et al.
SURVEY OF OPHTHALMOLOGY (2009)
Multimodal Imaging Including Spectral Domain OCT and Confocal Near Infrared Reflectance for Characterization of Outer Retinal Pathology in Pseudoxanthoma Elasticum
Peter Charbel Issa et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Parameters of oxidative stress are present in the circulation of PXE patients
Maria Inmaculada Garcia-Fernandez et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2008)
Pseudoxanthoma elasticum:: Genetic variations in antioxidant genes are risk factors for early disease onset
Ralf Zarbock et al.
CLINICAL CHEMISTRY (2007)
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Ellen G. Pfendner et al.
JOURNAL OF MEDICAL GENETICS (2007)
Mutational Analysis of the ABCC6 Gene and the Proximal ABCC6 Gene Promoter in German Patients With Pseudoxanthoma Elasticum (PXE)
Veronika Schulz et al.
HUMAN MUTATION (2006)
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
SV Tavtigian et al.
JOURNAL OF MEDICAL GENETICS (2006)
Molecular genetics of pseudoxanthoma elasticum:: Type and frequency of mutations in ABCC6
S Miksch et al.
HUMAN MUTATION (2005)
Pseudoxanthoma elasticum with severe gastrointestinal bleeding
N Golliet-Mercier et al.
ANNALES FRANCAISES D ANESTHESIE ET DE REANIMATION (2005)
Spectrum of pattern dystrophy in pseudoxanthoma elasticum
A Agarwal et al.
ARCHIVES OF OPHTHALMOLOGY (2005)
New ABCC6 gene mutations in German pseudoxanthoma elasticum patients
D Hendig et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2005)
Novel ABCC6 mutations in pseudoxanthoma elasticum
N Chassaing et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)
Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)
Y Noji et al.
INTERNAL MEDICINE (2004)
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C > T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients
C Gotting et al.
LABORATORY INVESTIGATION (2004)
Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update
XF Hu et al.
SURVEY OF OPHTHALMOLOGY (2003)
Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum
D Gheduzzi et al.
ULTRASTRUCTURAL PATHOLOGY (2003)
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
O Le Saux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
L Pulkkinen et al.
HUMAN GENETICS (2001)
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
J Uitto et al.
TRENDS IN MOLECULAR MEDICINE (2001)
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
DP Germain et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)
Mutations in ABCC6 cause pseudoxanthoma elasticum
AAB Bergen et al.
NATURE GENETICS (2000)
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
O Le Saux et al.
NATURE GENETICS (2000)
Pseudoxanthoma elasticum:: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
F Ringpfeil et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
B Struk et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2000)
分享论文
