(Q30426340)

6 November 2017

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis (English)

1 reference

6 November 2017

Sebastian Maurer-Stroh

9

0 references

Steven G. Rozen

object named as

Steven G Rozen

20

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author name string

Vincent José Soler

1

1 reference

6 November 2017

Khanh-Nhat Tran-Viet

2

1 reference

6 November 2017

Stéphane D Galiacy

3

1 reference

6 November 2017

Vachiranee Limviphuvadh

4

1 reference

6 November 2017

Thomas Patrick Klemm

5

1 reference

6 November 2017

Elizabeth St Germain

6

1 reference

6 November 2017

Pierre R Fournié

7

1 reference

6 November 2017

Céline Guillaud

8

1 reference

6 November 2017

Felicia Hawthorne

10

1 reference

6 November 2017

Cyrielle Suarez

11

1 reference

6 November 2017

Bernadette Kantelip

12

1 reference

6 November 2017

Natalie A Afshari

13

1 reference

6 November 2017

Isabelle Creveaux

14

1 reference

6 November 2017

Xiaoyan Luo

15

1 reference

6 November 2017

Weihua Meng

16

1 reference

6 November 2017

Patrick Calvas

17

1 reference

6 November 2017

Myriam Cassagne

18

1 reference

6 November 2017

Jean-Louis Arné

19

1 reference

6 November 2017

François Malecaze

21

1 reference

6 November 2017

Terri L Young

22

1 reference

6 November 2017

language of work or name

English

0 references

publication date

24 January 2013

1 reference

Journal of Medical Genetics

6 November 2017

1 reference

6 November 2017

50

1 reference

6 November 2017

246-254

1 reference

6 November 2017

4

1 reference

The rhapsody of NLRPs: master players of inflammation...and a lot more

6 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

NLRP1, a regulator of innate immunity associated with vitiligo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Reorganizing the protein space at the Universal Protein Resource (UniProt)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Exome sequencing as a tool for Mendelian disease gene discovery

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Recent progress in the genetics of generalized vitiligo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Sequencing technologies and genome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Revisiting Mendelian disorders through exome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

A decade's perspective on DNA sequencing technology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Entrez Gene: gene-centered information at NCBI

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

A map of human genome variation from population-scale sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Parallelization of the MAFFT multiple sequence alignment program

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Exome sequencing identifies the cause of a mendelian disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Evolution and functional divergence of NLRP genes in mammalian reproductive systems

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

ANNIE: integrated de novo protein sequence annotation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The Nod-like receptor (NLR) family: a tale of similarities and differences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The UCSC genome browser database: update 2007.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Hereditary Dyskeratosis of the Perilimbal Conjunctiva.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The FoldX web server: an online force field

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Accounting for human polymorphisms predicted to affect protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

dbSNP: the NCBI database of genetic variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Three patterns of cytokine expression potentially involved in epithelial-fibroblast interactions of human ocular surface

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

A coding variant in NLRP1 is associated with autoimmune Addison's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115150

Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology

26 November 2018

1 reference

12 December 2020

Hereditary benign intraepithelial dyskeratosis: a new case?

1 reference

12 December 2020

Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease

1 reference

12 December 2020

[Benign hereditary intraepithelial dyskeratosis. Study of a family nucleus]

1 reference

12 December 2020

Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions

1 reference

12 December 2020

[Hereditary benign intraepithelial dyskeratosis]

1 reference

12 December 2020

Hereditary benign intraepithelial dyskeratosis. II. Oral manifestations and hereditary transmission

1 reference

12 December 2020

Hereditary benign intraepithelial dyskeratosis

1 reference

12 December 2020

Corneal Manifestations of Hereditary Benign Intraepithelial Dyskeratosis

1 reference

12 December 2020

Differential regulation of cytokine and receptor transcript expression in human corneal and limbal fibroblasts by epidermal growth factor, transforming growth factor-alpha, platelet-derived growth factor B, and interleukin-1 beta

1 reference

12 December 2020

Hereditary benign intraepithelial dyskeratosis: case report

1 reference

12 December 2020

10.1136/JMEDGENET-2012-101325

Identifiers

DOI

1 reference

6 November 2017

1 reference

6 November 2017

1 reference