Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.
Dos Santos Mendes R et al.
Frontiers in Neurology, 2025
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
Rustamov J et al.
Scientific Reports, 2024
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.
Saneifard H et al.
Molecular Genetics and Metabolism Reports, 2024
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Capitini C et al.
Biomedicines, 2022
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG et al.
Clinical Genetics, 2019
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA et al.
Indian Journal of Pediatrics, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.
Colin E et al.
Jimd Reports, 2016
[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].
Yang R et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2014
[Clinical and genetic special features of Niemann-Pick disease, type C].
Zakharova EIu et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2012
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T et al.
Neurogenetics, 2009