(Q35083303)

English

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Greig cephalopolysyndactyly syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Andrew Oliver Mungo Wilkie

12

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Flemming Skovby

5

object named as

Flemming Skovby

0 references

Leslie G Biesecker

11

object named as

Leslie G Biesecker

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

9

object named as

Peter M Kroisel

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

Jane A Hurst

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Dagan Jenkins

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Pradeep C Vasudevan

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Maria Kirchhoff

4

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Claudine Rieubland

6

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Sabina Gallati

7

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Olaf Rittinger

8

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

David Johnson

10

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

publication date

16 February 2011

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

757-762

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

What you can learn from one gene: GLI3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

8 July 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

28 July 2018

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

Metopic craniosynostosis due to mutations in GLI3: A novel association.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

Editorial: perspectives on craniosynostosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

Fetal constraint as a potential risk factor for craniosynostosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

27 September 2018

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

27 September 2018

Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

27 September 2018

Familial polysyndactyly and craniofacial anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

27 September 2018

Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)

2 references

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

25 October 2018

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

25 October 2018

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

25 October 2018

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

21 January 2018

https://api.crossref.org/works/10.1038%2FEJHG.2011.13

7 January 2021

based on heuristic

inferred from DOI database lookup

The Greig polysyndactyly craniofacial dysmorphism syndrome: Variable expression in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128494

25 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21326280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum

1 reference

https://pubmed.ncbi.nlm.nih.gov/21326280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2011.13

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

0 references

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