(Q36637825)

15 August 2017

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar (English)

1 reference

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

15 August 2017

0 references

corrigendum / erratum

0 references

author

Agnes Bloch-Zupan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Philippe Gorry

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

17

Hélène Dollfus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Mathilde Huckert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Corinne Stoetzel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Julia Meyer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Véronique Geoffroy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rabisoa W Razafindrakoto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Saholy N Ralison

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jean-Claude Randrianaivo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Georgette Ralison

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rija O Andriamasinoro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rija H Ramanampamaharana

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Solofomanantsoa E Randrianazary

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Béatrice Richard

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Marie-Cécile Manière

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Simone Rakoto Alson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

2 March 2016

1 reference

15 August 2017

Frontiers in Physiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

VaRank: a simple and powerful tool for ranking genetic variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin sialophosphoprotein in biomineralization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Disorders of human dentin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Hereditary dentin defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dental structural diseases mapping to human chromosome 4q21.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

DSPP mutation in dentinogenesis imperfecta Shields type II

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A proposed classification for heritable human dentine defects with a description of a new entity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin sialoprotein (DSP) transcripts: developmentally-sustained expression in odontoblasts and transient expression in pre-ameloblasts.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin sialoprotein: biosynthesis and developmental appearance in rat tooth germs in comparison with amelogenins, osteocalcin and collagen type-I.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Phenotypes and genotypes in 2 DGI families with different DSPP mutations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773637

Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00070

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26973538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26973538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26973538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FPHYS.2016.00070

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26973538%20AND%20SRC:MED&resulttype=core&format=json