Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.
Kara C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
Pugach EK et al.
Human Molecular Genetics, 2018
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M et al.
American Journal of Medical Genetics. Part A, 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
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
Millat G et al.
American Journal of Human Genetics, 2001
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