Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease (Q34658061)

3 August 2017

0 references

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease (English)

1 reference

3 August 2017

5

Margaret M McGovern

1 reference

3 August 2017

6

Edward H Schuchman

1 reference

3 August 2017

1

Calogera M Simonaro

1 reference

3 August 2017

Jae-Ho Park

2

1 reference

3 August 2017

Efrat Eliyahu

series ordinal

3

1 reference

3 August 2017

Nataly Shtraizent

series ordinal

4

1 reference

3 August 2017

language of work or name

English

0 references

publication date

14 March 2006

1 reference

American Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

78

1 reference

3 August 2017

issue

5

1 reference

3 August 2017

page(s)

865-870

1 reference

Ceramide : A New Target in Anticancer Research?

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Raft ceramide in molecular medicine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474038

Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16642440

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16642440

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/503750

1 reference

3 August 2017

1 reference

3 August 2017

1 reference