(Q44127379)

30 November 2017

title

Identification of four novel PCDH19 Mutations and prediction of their functional impact (English)

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Marilena Vecchi

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Elisa Bettella

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Roberta Polli

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Luca De Palma

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Clementina Boniver

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Alessandra Murgia

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language of work or name

English

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publication date

17 September 2014

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30 November 2017

published in

Annals of Human Genetics

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30 November 2017

volume

78

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issue

6

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page(s)

389-398

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Predicting functional effect of human missense mutations using PolyPhen-2.

30 November 2017

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SNAP predicts effect of mutations on protein function

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Multiple cadherin extracellular repeats mediate homophilic binding and adhesion

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

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

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

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

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A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion

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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

21 January 2018

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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

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

21 January 2018

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Multiple alignment of DNA sequences with MAFFT

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Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain

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21 January 2018

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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

21 January 2018

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Molecular design principles underlying β-strand swapping in the adhesive dimerization of cadherins

21 January 2018

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Bluues server: electrostatic properties of wild-type and mutated protein structures.

21 January 2018

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Identification and characterization of three members of a novel subclass of protocadherins

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Measurement of the β-sheet-forming propensities of amino acids

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21 January 2018

Identifiers

DOI

10.1111/AHG.12082

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30 November 2017

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