PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. (Q47386232)

http://europepmc.org/abstract/PMC/5800346

25 February 2018

1 reference

22 December 2020

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. (English)

1 reference

http://europepmc.org/abstract/PMC/5800346

25 February 2018

main subject

intellectual disability

1 reference

6 November 2020

1 reference

6 October 2019

1 reference

11 December 2019

1 reference

22 December 2020

1 reference

6 November 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Servi Jc Stevens

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Alexander P Stegmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Roger S-Y Foo

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jeff L Waugh

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sotirios Keros

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Christoffer Nellåker

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

13

Eric Smeets

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

42

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

10

Jolanda Schieving

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1

Margot R F Reijnders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Robert Janowski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mohsan Alvi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ton J van Essen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Maaike Vreeburg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Rob P W Rouhl

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Rolph Pfundt

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Katinke van Dijk

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Connie T R M Stumpel

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Levinus A Bok

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jan Maarten Cobben

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Marc Engelen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sahar Mansour

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Margo Whiteford

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Kate E Chandler

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sofia Douzgou

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Nicola S Cooper

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ene-Choo Tan

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Angeline H M Lai

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Julia Rankin

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Andrew Green

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Tuula Lönnqvist

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Pirjo Isohanni

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Shelley Williams

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ilene Ruhoy

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Karen S Carvalho

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

James J Dowling

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Dorit L Lev

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Katalin Sterbova

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Petra Lassuthova

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jana Neupauerová

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Jill Clayton-Smith

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sarah F Smithson

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ceciel van Hoeckel

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mel Anderson

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Virginia E Clowes

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Victoria Mok Siu

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

The Ddd Study

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Paulo Selber

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Richard J Leventer

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

David Hunt

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Diana Baralle

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Dierk Niessing

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

2 November 2017

1 reference

http://europepmc.org/abstract/PMC/5800346

25 February 2018

1 February 2018

6 references

14 September 2019

6 October 2019

11 December 2019

22 December 2019

6 November 2020

22 December 2020

Journal of Medical Genetics

7 references

14 September 2019

6 October 2019

11 December 2019

22 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

6 November 2020

22 December 2020

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

104-113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial

7 June 2020

copyright license

6 references

14 September 2019

6 October 2019

11 December 2019

22 December 2019

6 November 2020

22 December 2020

Lessons learned from additional research analyses of unsolved clinical exome cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Memory deficits, gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Analysis of protein-coding genetic variation in 60,706 humans

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

De novo mutations in PURA are associated with hypotonia and developmental delay

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

The Phyre2 web portal for protein modeling, prediction and analysis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Diagnostically relevant facial gestalt information from ordinary photos

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Lack of Pur-alpha alters postnatal brain development and causes megalencephaly

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Features and development of Coot

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

X-ray structure of Pur- reveals a Whirly-like fold and an unusual nucleic-acid binding surface

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Multiple roles for Puralpha in cellular and viral regulation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Premature Thelarche and the PURA Syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Patient with a novel purine-rich element binding protein A mutation.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800346

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29097605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29097605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29097605

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2017-104946

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29097605%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference