Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (Q56338204)

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12 January 2020

title

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

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4

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Matthew Edwards

8

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author name string

Ilse Wieland

1

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William Reardon

2

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Sibylle Jakubiczka

3

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Wolfram Kress

5

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Catherine Vincent-Delorme

6

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Patrick Thierry

7

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Rainer König

9

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Cristina Rusu

10

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Susann Schweiger

11

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Elizabeth Thompson

12

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Sigrid Tinschert

13

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Fiona Stewart

14

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Peter Wieacker

15

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language of work or name

English

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publication date

1 August 2005

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12 January 2020

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12 January 2020

volume

26

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issue

2

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page(s)

113-118

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Tyrosine phosphorylation of transmembrane ligands for Eph receptors

12 January 2020

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Control of skeletal patterning by ephrinB1-EphB interactions

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

The SH2/SH3 adaptor Grb4 transduces B-ephrin reverse signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Eph/ephrin signaling in morphogenesis, neural development and plasticity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Ephrin-B reverse signaling is mediated by a novel PDZ-RGS protein and selectively inhibits G protein-coupled chemoattraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Rac-dependent trans-endocytosis of ephrinBs regulates Eph-ephrin contact repulsion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

EphrinB phosphorylation and reverse signaling: regulation by Src kinases and PTP-BL phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Further evidence from two families that craniofrontonasal dysplasia maps to Xp22

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Craniofrontonasal syndrome: study of 41 patients

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Mapping of a further locus for X-linked craniofrontonasal syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

EphB-ephrinB bi-directional endocytosis terminates adhesion allowing contact mediated repulsion.

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https://api.crossref.org/works/10.1002%2FHUMU.20193

7 January 2021

Identifiers

DOI

10.1002/HUMU.20193

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12 January 2020

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