(Q85407581)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23142039%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients (English)

1 reference

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17 February 2020

2

1 reference

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17 February 2020

Judit Macías-Vidal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23142039%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Bru Cormand

5

1 reference

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17 February 2020

D Grinberg

8

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17 February 2020

author name string

Laura Rodríguez-Pascau

1

1 reference

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17 February 2020

Mónica Cozar

4

1 reference

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17 February 2020

Lilia Lykopoulou

6

1 reference

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17 February 2020

Maria Josep Coll

7

1 reference

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17 February 2020

Lluïsa Vilageliu

9

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17 February 2020

publication date

14 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23142039%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

17 February 2020

published in

1 reference

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17 February 2020

volume

107

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17 February 2020

issue

4

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17 February 2020

page(s)

716-720

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23142039%20AND%20SRC:MED&resulttype=core&format=json

Niemann-Pick disease type C

17 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Identification of HE1 as the second gene of Niemann-Pick C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Structure and function of the NPC2 protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

NPC-db, a Niemann-Pick type C disease gene variation database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Molecular analysis of 30 Niemann-Pick type C patients from Spain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Inversion and deletion of 16q22 defined by array CGH, FISH, and RT-PCR in a patient with AML.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Whole population, genome-wide mapping of hidden relatedness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.004

10.1016/J.YMGME.2012.10.004

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23142039%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference