(Q24301630)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

case report

0 references

title

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

FAM20A golgi associated secretory pathway pseudokinase

31 January 2020

main subject

1 reference

GOA release 2020-03-11

enamel mineralization

1 reference

GOA release 2020-03-11

amelogenesis imperfecta

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Martin John Barron

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Graeme Black

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

James O'Sullivan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Carolina C Bitu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Sarah B Daly

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Sanjeev S Bhaskar

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Hercilio Martelli-Júnior

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Pedro Eleuterio dos Santos Neto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Maria A Mansilla

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Jeffrey C Murray

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Ricardo D Coletta

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Michael J Dixon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

language of work or name

English

0 references

publication date

5 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

31 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

volume

88

1 reference

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31 January 2020

issue

5

1 reference

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31 January 2020

page(s)

616-620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

31 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Exome sequencing identifies the cause of a mendelian disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Nonsense-mediated mRNA decay in health and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Enamel formation and amelogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

A transgenic mouse line with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and its upstream region shows growth disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

Cellular and chemical events during enamel maturation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146735

10.1016/J.AJHG.2011.04.005

29 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21549343%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

2 references