9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping (Q30355110)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395556%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395556%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

main subject

Contiguous gene syndrome

1 reference

1

1 reference

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24 February 2020

Julien Thevenon

8

1 reference

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24 February 2020

Charles Coutton

16

1 reference

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24 February 2020

Caroline Rooryck

20

1 reference

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24 February 2020

Paul Kuentz

25

1 reference

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24 February 2020

Sophie Dupuis-Girod

27

1 reference

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24 February 2020

19

Delphine Heron

1 reference

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24 February 2020

17

Fanny Morice-Picard

1 reference

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24 February 2020

29

Laurence Faivre

1 reference

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24 February 2020

Sylvie Manouvrier-Hanu

26

object named as

Sylvie Manouvrier-Hanu

1 reference

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24 February 2020

Christel Thauvin-Robinet

5

object named as

Christel Thauvin-Robinet

1 reference

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24 February 2020

13

Joris Andrieux

1 reference

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24 February 2020

author name string

Alice Masurel

2

1 reference

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24 February 2020

Salima El Chehadeh

3

1 reference

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24 February 2020

Anne-Laure Mosca-Boidron

4

1 reference

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24 February 2020

Mathilde Lefebvre

6

1 reference

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24 February 2020

Nathalie Marle

7

1 reference

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24 February 2020

Stéphanie Perez-Martin

9

1 reference

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24 February 2020

Véronique Dulieu

10

1 reference

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24 February 2020

Frédéric Huet

11

1 reference

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24 February 2020

Ghislaine Plessis

12

1 reference

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24 February 2020

Pierre-Simon Jouk

14

1 reference

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24 February 2020

Gipsy Billy-Lopez

15

1 reference

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24 February 2020

Marie-Ange Delrue

18

1 reference

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24 February 2020

Alice Goldenberg

21

1 reference

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24 February 2020

Pascale Saugier-Veber

22

1 reference

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24 February 2020

Géraldine Joly-Hélas

23

1 reference

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24 February 2020

Patricia Calenda

24

1 reference

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24 February 2020

Patrick Callier

28

1 reference

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24 February 2020

publication date

23 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395556%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

24 February 2020

published in

1 reference

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24 February 2020

volume

24

1 reference

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24 February 2020

issue

6

1 reference

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24 February 2020

page(s)

830-837

1 reference

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SPTAN1 encephalopathy: distinct phenotypes and genotypes

24 February 2020

cites work

1 reference

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De novo mutations in moderate or severe intellectual disability

3 June 2018

1 reference

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

3 June 2018

1 reference

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

3 June 2018

1 reference

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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

3 June 2018

1 reference

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

3 June 2018

1 reference

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Intellectual disability without epilepsy associated with STXBP1 disruption

3 June 2018

1 reference

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Nail-Patella Syndrome Associated with Short Stature: A Case Series

3 June 2018

1 reference

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A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

3 June 2018

1 reference

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Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867444

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

3 June 2018

1 reference

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Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867444

Relationship between the structure of SET/TAF-I /INHAT and its histone chaperone activity

3 June 2018

1 reference

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Nail-patella syndrome and its association with glaucoma: a review of eight families

3 June 2018

1 reference

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Nail patella syndrome: a review of the phenotype aided by developmental biology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867444

Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867444

Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.202

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.202

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.202

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.202

Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867444

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26395556

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26395556

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26395556

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395556%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395556%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

26395556

1 reference