(Q52785713)

English

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

scientific article published in December 2017

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scholarly article

1 reference

Europe PubMed Central

7 May 2018

http://europepmc.org/abstract/MED/29136349

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. (English)

1 reference

Europe PubMed Central

7 May 2018

http://europepmc.org/abstract/MED/29136349

1 reference

based on heuristic

inferred from title

Daphné Lehalle

1

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9 June 2020

2

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9 June 2020

Laurence Olivier-Faivre

16

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9 June 2020

7

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Julie Désir

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9 June 2020

Ange-Line Bruel

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Ange-Line Bruel

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9 June 2020

9

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Damien Lederer

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9 June 2020

12

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Amihood Singer

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9 June 2020

author name string

Eric Arnaud

4

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9 June 2020

Patricia Blanchet

5

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9 June 2020

Jong-Woo Choi

6

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9 June 2020

Esra Kiliç

8

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9 June 2020

Lucile Pinson

10

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9 June 2020

Christel Thauvin-Robinet

11

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9 June 2020

Julien Thevenon

13

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9 June 2020

Patrick Callier

14

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9 June 2020

Hulya Kayserili

15

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9 June 2020

language of work or name

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publication date

1 December 2017

1 reference

Europe PubMed Central

7 May 2018

http://europepmc.org/abstract/MED/29136349

American Journal of Medical Genetics

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9 June 2020

173

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9 June 2020

12

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9 June 2020

3136-3142

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9 June 2020

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Bifid nose with cleft hand deformity: syndromic association or undescribed anomaly?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Vertebrate limb bud formation is initiated by localized epithelial-to-mesenchymal transition.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Analysis of neural crest-derived clones reveals novel aspects of facial development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

ALX4 dysfunction disrupts craniofacial and epidermal development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Monozygotic twins discordant for frontonasal malformation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

EphB/ephrinB signaling in cell adhesion and migration

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Frontonasal malformation as a field defect and in syndromic associations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38490

21 January 2018

Identifiers

10.1002/AJMG.A.38490

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29136349%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29136349%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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