(Q37446485)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

Monika Bekiesińska-Figatowska

15 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Jerzy Bal

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

13

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

12

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

8

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

6

Beata Nowakowska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

11

Eric Boerwinkle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1

Pawel Gawlinski

1 reference

15 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

2

Renata Posmyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

author name string

Danuta Sielicka

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Monika Chorazy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Shalini N Jhangiani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Wojciech Wiszniewski

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

publication date

9 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

page(s)

83-87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

Secondary findings and carrier test frequencies in a large multiethnic sample

15 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Molecular findings among patients referred for clinical whole-exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Diagnostic criteria and genetics of the PEHO syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

PEHO and PEHO-like syndromes: report of five Australian cases.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125779

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27343026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27343026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.PEDIATRNEUROL.2016.03.011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27343026%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference