(Q45113897)

9 December 2017

title

EYA1 mutation in a newborn female presenting with cardiofacial syndrome (English)

1 reference

9 December 2017

N Shimasaki

1

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9 December 2017

K Watanabe

series ordinal

2

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9 December 2017

M Hara

series ordinal

3

1 reference

9 December 2017

K Kosaki

series ordinal

4

1 reference

9 December 2017

language of work or name

1 reference

1 July 2004

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9 December 2017

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9 December 2017

volume

25

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9 December 2017

issue

4

1 reference

9 December 2017

page(s)

411-413

1 reference

https://scigraph.springernature.com/pub.10.1007/s00246-003-0271-3

9 December 2017

exact match

0 references

cites work

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

1 reference

12 December 2020

Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition?

1 reference

12 December 2020

Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association

1 reference

12 December 2020

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

1 reference

12 December 2020

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

1 reference

12 December 2020

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

1 reference

12 December 2020

BOR and BO syndromes are allelic defects of EYA1

1 reference

12 December 2020

New' manifestations of BOR syndrome

1 reference

12 December 2020

Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome

1 reference

12 December 2020

Congenital hypoplasia of the depressor anguli oris muscle: differentiation from congenital facial palsy

1 reference

12 December 2020

Further studies of patients with the cardiofacial syndrome

1 reference

12 December 2020

Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

1 reference

12 December 2020

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred

1 reference

12 December 2020

10.1007/S00246-003-0271-3

Identifiers

DOI

1 reference

Dimensions Publication ID

9 December 2017

1008993812

0 references

1 reference