(Q21261444)

English

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

scientific article

Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

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1 reference

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Elizabeth M Simpson

6

object named as

Elizabeth M Simpson

author given names

Elizabeth M

author last names

Simpson

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Ravinesh A Kumar

1

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Ravinesh A

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Kumar

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2 January 2020

David B Everman

2

author given names

David B

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Everman

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Chad T Morgan

3

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Chad T

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Morgan

1 reference

Europe PubMed Central

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2 January 2020

Anne Slavotinek

4

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Anne

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Slavotinek

1 reference

Europe PubMed Central

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2 January 2020

Charles E Schwartz

5

author given names

Charles E

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Schwartz

1 reference

Europe PubMed Central

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2 January 2020

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publication date

26 July 2007

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2 January 2020

BMC Medical Genetics

1 reference

Europe PubMed Central

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2 January 2020

8

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2 January 2020

1

0 references

48

1 reference

Europe PubMed Central

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2 January 2020

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-48

0 references

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

The human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Consed: a graphical tool for sequence finishing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

The Tlx gene regulates the timing of neurogenesis in the cortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Loss of the tailless gene affects forebrain development and emotional behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

19 March 2017

Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

12 September 2017

Pathogenesis of split-hand/split-foot malformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

12 September 2017

A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

30 May 2018

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-48

21 January 2018

P63 mutations are not a major cause of non-syndromic split hand/foot malformation

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-48

21 January 2018

Tlx and Pax6 co-operate genetically to establish the pallio-subpallial boundary in the embryonic mouse telencephalon.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-48

21 January 2018

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

29 November 2018

The mouse homolog of the orphan nuclear receptor tailless is expressed in the developing forebrain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950490

29 November 2018

Identifiers

10.1186/1471-2350-8-48

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17655765%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

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