(Q46832645)

25 December 2017

title

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing (English)

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author

Ann Saada

5

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author name string

Itai Berger

1

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Ziva Ben-Neriah

2

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Talia Dor-Wolman

3

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Avraham Shaag

4

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Shamir Zenvirt

6

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Annick Raas-Rothschild

7

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Michel Nadjari

8

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Klaus H Kaestner

9

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Orly Elpeleg

10

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publication date

24 September 2011

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25 December 2017

Molecular Genetics and Metabolism

published in

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volume

104

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issue

4

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25 December 2017

page(s)

517-520

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Sonographic diagnosis of fetal cerebral ventriculomegaly: an update.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Fetal cerebral ventriculomegaly: outcome in 176 cases.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Systematic identification of human mitochondrial disease genes through integrative genomics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Prenatal isolated mild ventriculomegaly: outcome in 167 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Molecular characterization of mitochondrial apoptosis-inducing factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

AIF deficiency compromises oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.020

10.1016/J.YMGME.2011.09.020

7 January 2021

Identifiers

DOI

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25 December 2017

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25 December 2017