Associated Papers
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C et al.
Hgg Advances, 2023
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients.
Hlavac V et al.
Cancers, 2018
ATP7B rs9535826 is associated with gastrointestinal toxicity of platinum-based chemotherapy in nonsmall cell lung cancer patients.
Li YQ et al.
Journal of Cancer Research and Therapeutics, 2018
Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.
Simeon V et al.
International Journal of Molecular Sciences, 2015
Menkes disease in affected females: the clinical disease spectrum.
Smpokou P et al.
American Journal of Medical Genetics. Part A, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Pharmacogenomics variation in drug metabolizing enzymes and transporters in relation to docetaxel toxicity in Lebanese breast cancer patients: paving the way for OMICs in low and middle income countries.
Awada Z et al.
Omics : a Journal of Integrative Biology, 2013
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Mogensen M et al.
Orphanet Journal of Rare Diseases, 2011
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
[Clinical and laboratory features of the Menkes disease].
Wang XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.
Poulsen L et al.
Clinical Genetics, 2002
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.
Liu PC et al.
Genetic Testing, 2002
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Gu YH et al.
American Journal of Medical Genetics, 2001
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Ogawa A et al.
Journal of Human Genetics, 2000