(Q34591768)

3 August 2017

title

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

1 reference

3 August 2017

main subject

cognitive dysfunction

1 reference

57

1 reference

3 August 2017

14

Sarah O'Meara

0 references

Sara Widaa

26

Sara Widaa

0 references

Tatiana Mironenko

23

Tatiana Mironenko

0 references

Lucianne Vandeleur

9

Lucianne Vandeleur

0 references

Cheryl Shoubridge

10

Cheryl Shoubridge

0 references

Syd Barthorpe

16

Syd Barthorpe

0 references

Gemma Buck

17

Gemma Buck

0 references

Jennifer Varian

24

Jennifer Varian

0 references

Sarah Edkins

11

Sarah Edkins

1 reference

3 August 2017

40

Tally Lerman-Sagie

1 reference

3 August 2017

Kim Hynes

3

0 references

Andy Jenkinson

Andrew Jenkinson

32

0 references

Samuel Berkovic

Samuel F Berkovic

53

0 references

Amos D. Korczyn

Amos D Korczyn

41

0 references

Ingrid Scheffer

5

Ingrid E Scheffer

0 references

P. Andrew Futreal

54

P Andrew Futreal

1 reference

3 August 2017

31

Andrew Menzies

1 reference

3 August 2017

55

Michael R Stratton

1 reference

3 August 2017

34

James F Gusella

1 reference

3 August 2017

43

Grant R Sutherland

1 reference

3 August 2017

48

Daniel H Geschwind

1 reference

3 August 2017

39

Dorit Lev

1 reference

3 August 2017

20

David Jones

1 reference

3 August 2017

52

Shane McKee

1 reference

3 August 2017

1

Leanne M Dibbens

1 reference

3 August 2017

2

Patrick S Tarpey

1 reference

3 August 2017

25

Sofie West

1 reference

3 August 2017

19

Kelly Halliday

1 reference

3 August 2017

6

Raffaella Smith

1 reference

3 August 2017

15

Calli Tofts

1 reference

3 August 2017

Marta A Bayly

4

1 reference

3 August 2017

Jamee Bomar

7

1 reference

3 August 2017

Edwina Sutton

8

1 reference

3 August 2017

Samantha J Turner

12

1 reference

3 August 2017

Claire Stevens

13

1 reference

3 August 2017

Jennifer Cole

18

1 reference

3 August 2017

Rebecca Lee

21

1 reference

3 August 2017

Mark Madison

22

1 reference

3 August 2017

Paul Wray

27

1 reference

3 August 2017

John Teague

28

1 reference

3 August 2017

Ed Dicks

29

1 reference

3 August 2017

Adam Butler

30

1 reference

3 August 2017

Rebecca Shepherd

33

1 reference

3 August 2017

Zaid Afawi

35

1 reference

3 August 2017

Aziz Mazarib

36

1 reference

3 August 2017

Miriam Y Neufeld

37

1 reference

3 August 2017

Sara Kivity

38

1 reference

3 August 2017

Christopher P Derry

42

1 reference

3 August 2017

Kathryn Friend

44

1 reference

3 August 2017

Marie Shaw

45

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3 August 2017

Mark Corbett

46

1 reference

3 August 2017

Hyung-Goo Kim

47

1 reference

3 August 2017

Paul Thomas

49

1 reference

3 August 2017

Eric Haan

50

1 reference

3 August 2017

Stephen Ryan

51

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3 August 2017

John C Mulley

56

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3 August 2017

language of work or name

English

0 references

publication date

11 May 2008

1 reference

3 August 2017

1 reference

3 August 2017

volume

40

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3 August 2017

issue

6

1 reference

3 August 2017

page(s)

776-781

1 reference

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

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

The cadherin superfamily in neuronal connections and interactions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Tissue-specific expression and regulation of sexually dimorphic genes in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Expression of the delta-protocadherin gene Pcdh19 in the developing mouse embryo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Type II cadherin ectodomain structures: implications for classical cadherin specificity.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

delta-Protocadherins: a gene family expressed differentially in the mouse brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Sex chromosomes and brain gender

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Cadherin superfamily genes: functions, genomic organization, and neurologic diversity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

A striking organization of a large family of human neural cadherin-like cell adhesion genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756413

Developmentally regulated expression of the regulator of G-protein signaling gene 2 (Rgs2) in the embryonic mouse pituitary.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.149

Structure of the cadherin-related neuronal receptor/protocadherin-alpha first extracellular cadherin domain reveals diversity across cadherin families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18469813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional implication of truncated P-cadherin expression in malignant melanoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18469813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

OL-Protocadherin is essential for growth of striatal axons and thalamocortical projections

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18469813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.149

1 reference

3 August 2017

1 reference

3 August 2017

1 reference