(Q34388873)

1 August 2017

title

The genetic basis of DOORS syndrome: an exome-sequencing study (English)

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1 August 2017

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12

Hülya Kayserili

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Gabriela M Repetto

Gabriela M Repetto

22

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Siddharth Banka

Siddharth Banka

32

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Philippe M. Campeau

Philippe M Campeau

1

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William G. Newman

William G Newman

28

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Anna Tostevin

35

Anna Tostevin

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1 August 2017

Sheela Nampoothiri

14

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ORCID Public Data File 2021

Richard A Gibbs

39

Richard A Gibbs

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1 August 2017

Dalia Kasperaviciute

2

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1 August 2017

James T Lu

3

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1 August 2017

Lindsay C Burrage

4

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1 August 2017

Choel Kim

5

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1 August 2017

Mutsuki Hori

6

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1 August 2017

Berkley R Powell

7

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1 August 2017

Fiona Stewart

8

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1 August 2017

Têmis Maria Félix

9

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1 August 2017

Jenneke van den Ende

10

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1 August 2017

Marzena Wisniewska

11

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1 August 2017

Patrick Rump

13

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Salim Aftimos

15

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1 August 2017

Antje Mey

16

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1 August 2017

Lal D V Nair

17

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1 August 2017

Michael L Begleiter

18

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1 August 2017

Isabelle De Bie

19

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1 August 2017

Girish Meenakshi

20

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1 August 2017

Mitzi L Murray

21

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1 August 2017

Mahin Golabi

23

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1 August 2017

Edward Blair

24

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1 August 2017

Alison Male

25

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1 August 2017

Fabienne Giuliano

26

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1 August 2017

Ariana Kariminejad

27

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1 August 2017

Sanjeev S Bhaskar

29

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1 August 2017

Jonathan E Dickerson

30

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1 August 2017

Bronwyn Kerr

31

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1 August 2017

Jacques C Giltay

33

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1 August 2017

Dagmar Wieczorek

34

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1 August 2017

Joanna Wiszniewska

36

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1 August 2017

Sau Wai Cheung

37

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1 August 2017

Raoul C Hennekam

38

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1 August 2017

Brendan H Lee

40

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Sanjay M Sisodiya

41

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1 August 2017

publication date

29 November 2013

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1 August 2017

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1 August 2017

volume

13

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1 August 2017

issue

1

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1 August 2017

page(s)

44-58

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 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=3895324

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Early childhood presentation of Czech dysplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Next-generation sequencing for disorders of low and high bone mineral density

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Genetics of the epilepsies: where are we and where are we going?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

BioGPS and MyGene.info: organizing online, gene-centric information

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Regulation of nonsense-mediated mRNA decay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Structural/functional analysis of the human OXR1 protein: identification of exon 8 as the anti-oxidant encoding function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Crystal structure of the TLDc domain of oxidation resistance protein 2 from zebrafish

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Illuminating the functional and structural repertoire of human TBC/RABGAPs.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Oxr1 is essential for protection against oxidative stress-induced neurodegeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Technology-specific error signatures in the 1000 Genomes Project data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Anaesthetic management of an adult patient with DOOR syndrome: a case report.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Protein structure prediction on the Web: a case study using the Phyre server

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Expression analysis of G Protein-Coupled Receptors in mouse macrophages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Stress induction and mitochondrial localization of Oxr1 proteins in yeast and humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. Syndrome)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

TBC1D24 truncating mutation resulting in severe neurodegeneration.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

A new case of DOOR syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

DOOR syndrome: clinical report, literature review and discussion of natural history.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

Systematic analysis of genes required for synapse structure and function

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895324

DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection

27 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970265-5

inferred from DOI database lookup

7 January 2021

based on heuristic

DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970265-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S1474-4422(13)70265-5

1 reference

release_tah6avc4dnclloylkh36vxbx6y

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tah6avc4dnclloylkh36vxbx6y

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3895324

1 reference

1 August 2017

1 reference