(Q36385688)

13 August 2017

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis (English)

1 reference

high-throughput sequencing

13 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Samuel C Chiang

3

1 reference

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9 June 2020

Magnus Sabel

17

1 reference

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9 June 2020

Jan-Inge Henter

24

1 reference

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9 June 2020

Magnus Nordenskjöld

25

1 reference

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9 June 2020

Yenan Bryceson

26

1 reference

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9 June 2020

21

Sule Unal

1 reference

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9 June 2020

author name string

Kristina Lagerstedt-Robinson

2

1 reference

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9 June 2020

Eya Ben Bdira

4

1 reference

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9 June 2020

Miguel Abboud

5

1 reference

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9 June 2020

Burcu Belen

6

1 reference

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9 June 2020

Omer Devecioglu

7

1 reference

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9 June 2020

Zehra Fadoo

8

1 reference

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9 June 2020

Allen E J Yeoh

9

1 reference

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9 June 2020

Hans Christian Erichsen

10

1 reference

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9 June 2020

Merja Möttönen

11

1 reference

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9 June 2020

Himmet Haluk Akar

12

1 reference

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9 June 2020

Johanna Hästbacka

13

1 reference

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9 June 2020

Zuhre Kaya

14

1 reference

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9 June 2020

Susana Nunes

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Turkan Patiroglu

16

1 reference

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9 June 2020

Ebru Tugrul Saribeyoglu

18

1 reference

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9 June 2020

Tor Henrik Tvedt

19

1 reference

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9 June 2020

Ekrem Unal

20

1 reference

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9 June 2020

Aysegul Unuvar

22

1 reference

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9 June 2020

Marie Meeths

23

1 reference

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9 June 2020

publication date

18 December 2015

1 reference

13 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

130

1 reference

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https://scigraph.springernature.com/pub.10.1186/s13073-015-0244-1

9 June 2020

exact match

0 references

cites work

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

30 September 2017

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Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders

30 September 2017

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Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood

30 September 2017

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Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

30 September 2017

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Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

30 September 2017

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30 September 2017

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Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome

30 September 2017

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XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

30 September 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

30 September 2017

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GEMINI: integrative exploration of genetic variation and genome annotations

30 September 2017

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Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.

30 September 2017

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An integrated map of genetic variation from 1,092 human genomes

30 September 2017

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Performance comparison of benchtop high-throughput sequencing platforms

30 September 2017

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

30 September 2017

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Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

30 September 2017

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Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

30 September 2017

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30 September 2017

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Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

30 September 2017

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30 September 2017

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A method and server for predicting damaging missense mutations

30 September 2017

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30 September 2017

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30 September 2017

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Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

30 September 2017

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Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder

30 September 2017

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SIFT: Predicting amino acid changes that affect protein function

30 September 2017

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

30 September 2017

1 reference

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Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome

30 September 2017

1 reference

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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Improved splice site detection in Genie

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684627

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13073-015-0244-1

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

21 January 2018

1 reference

12 December 2020

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations

1 reference

12 December 2020

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

1 reference

12 December 2020

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

1 reference

12 December 2020

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

1 reference

12 December 2020

10.1186/S13073-015-0244-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

26684649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26684649%20AND%20SRC:MED&resulttype=core&format=json