Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. (Q50744408)

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12 February 2020

title

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR (English)

1 reference

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12 February 2020

2

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12 February 2020

Francesca Darra

3

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12 February 2020

Antonella Sferra

4

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12 February 2020

Enrico Bertini

7

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Bernardo Dalla Bernardina

12 February 2020

5

object named as

B Dalla Bernardina

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12 February 2020

author name string

A Terracciano

1

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12 February 2020

F Vigevano

6

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12 February 2020

publication date

6 September 2012

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12 February 2020

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12 February 2020

volume

13

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12 February 2020

issue

4

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12 February 2020

page(s)

341-345

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https://scigraph.springernature.com/pub.10.1007/s10048-012-0342-9

12 February 2020

exact match

0 references

cites work

A new familial form of convulsive disorder and mental retardation limited to females

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Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

21 January 2018

1 reference

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

21 January 2018

1 reference

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Epilepsy and mental retardation limited to females: an under-recognized disorder

21 January 2018

1 reference

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

21 January 2018

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Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

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Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

21 January 2018

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Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

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A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22949144

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22949144