(Q34323553)

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

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scholarly article

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Europe PubMed Central

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1 August 2017

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (English)

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Europe PubMed Central

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1 August 2017

Andrew Oliver Mungo Wilkie

20

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1 August 2017

1

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Stephen R F Twigg

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1 August 2017

Eleni Giannoulatou

object named as

Eleni Giannoulatou

7

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Simon J McGowan

object named as

Simon J McGowan

6

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object named as

Anne Goriely

4

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Roseli Maria Zechi-Ceide

12

object named as

Roseli M Zechi-Ceide

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1 August 2017

18

object named as

Han G Brunner

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1 August 2017

author name string

Christian Babbs

2

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1 August 2017

Marijke E P van den Elzen

3

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1 August 2017

Stephen Taylor

5

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1 August 2017

Lorne Lonie

8

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1 August 2017

Jiannis Ragoussis

9

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1 August 2017

Elham Sadighi Akha

10

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1 August 2017

Samantha J L Knight

11

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1 August 2017

Jeannette A M Hoogeboom

13

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1 August 2017

Barbara R Pober

14

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1 August 2017

Helga V Toriello

15

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1 August 2017

Steven A Wall

16

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1 August 2017

M Rita Passos-Bueno

17

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1 August 2017

Irene M J Mathijssen

19

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1 August 2017

language of work or name

1 reference

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publication date

17 January 2013

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1 August 2017

Human Molecular Genetics

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1 August 2017

22

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Europe PubMed Central

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1 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1654-1662

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

X chromosome inactivation is initiated in human preimplantation embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Ephrin-B1 forward and reverse signaling are required during mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Control of skeletal patterning by ephrinB1-EphB interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Translational pathophysiology: a novel molecular mechanism of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Efficiency of reinitiation of translation on human immunodeficiency virus type 1 mRNAs is determined by the length of the upstream open reading frame and by intercistronic distance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

6 July 2018

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Additional EFNB1 mutations in craniofrontonasal syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Thrombopoietin production is inhibited by a translational mechanism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Craniofrontonasal dysostosis: variable expression in a three-generation family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Craniofrontonasal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Craniofrontonasal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Frontonasal dysplasia with coronal craniosynostosis in three sibs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605834

28 October 2018

Radiocephalometric findings in a family with craniofrontonasal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23335590

12 December 2020

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inferred from PubMed ID database lookup

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10.1093/HMG/DDT015

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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