Publications:

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Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.

Journal Of Lipid Research

Groenen, Anouk G AG; La Rose, Anouk M AM; Li, Mengying M; Bazioti, Venetia V; Svendsen, Arthur F AF; Kloosterhuis, Niels J NJ; Ausema, Albertina A; Pranger, Alle A; Heiner-Fokkema, M Rebecca MR; Niezen-Koning, Klary E KE; Houben, Tom T; Shiri-Sverdlov, Ronit R; Westerterp, Marit M

Publication Date: 2022-02

Variant appearance in text: NPC1: 2849T>G; Val950Gly

PubMed Link: 35007562

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs1057517978

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Orphanet Journal Of Rare Diseases

Musalkova, Dita D; Majer, Filip F; Kuchar, Ladislav L; Luksan, Ondrej O; Asfaw, Befekadu B; Vlaskova, Hana H; Storkanova, Gabriela G; Reboun, Martin M; Poupetova, Helena H; Jahnova, Helena H; Hulkova, Helena H; Ledvinova, Jana J; Dvorakova, Lenka L; Sikora, Jakub J; Jirsa, Milan M; Vanier, Marie T MT; Hrebicek, Martin M

Publication Date: 2020-04-05

Variant appearance in text: NPC1: V950G

PubMed Link: 32248828

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1360.pdf
• 13023_2020_1360_MOESM1_ESM.pdf

View BVdb publication page

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Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Clinical Genetics

Kaseniit, Kristjan E KE; Collins, Elizabeth E; Lo, Christine C; Moyer, Krista K; Mar-Heyming, Rebecca R; Kang, Hyunseok P HP; Muzzey, Dale D

Publication Date: 2019-09

Variant appearance in text: NPC1: 2849T>G

PubMed Link: 31170325

Variant Present in the following documents:

• CGE-96-236-s003.pdf

View BVdb publication page

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: V950G

PubMed Link: 26981555

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: NPC1: 2849T>G; V950G

PubMed Link: 25236789

Variant Present in the following documents:

• Main text
• 13023_2014_Article_140.pdf

View BVdb publication page

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