(Q33430541)

26 July 2017

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (English)

1 reference

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

26 July 2017

corrigendum / erratum

1 reference

10.1007/S10875-016-0287-0

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S10875-016-0287-0

20

Martine Le Merrer

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Anne Puel

25

Anne Puel

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Véronique Baudouin

7

Veronique Baudouin

1 reference

26 July 2017

27

Sabine Scholl-Bürgi

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26 July 2017

16

Daniela Karall

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26 July 2017

Tracy A Briggs

1

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David J Coman

David Coman

10

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Brigitte Bader-Meunier

Brigitte Bader-Meunier

30

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Yanick J. Crow

Yanick J Crow

31

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Agnès Linglart

21

Agnes Linglart

1 reference

26 July 2017

Gillian I Rice

2

1 reference

26 July 2017

Navid Adib

3

1 reference

26 July 2017

Lesley Ades

4

1 reference

26 July 2017

Stephane Barete

5

1 reference

26 July 2017

Kannan Baskar

6

1 reference

26 July 2017

Ayse N Cebeci

8

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26 July 2017

Philippe Clapuyt

9

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26 July 2017

Lien De Somer

11

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26 July 2017

Yael Finezilber

12

1 reference

26 July 2017

Moshe Frydman

13

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26 July 2017

Ayla Guven

14

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26 July 2017

Sébastien Heritier

15

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26 July 2017

Muralidhar L Kulkarni

17

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26 July 2017

Pierre Lebon

18

1 reference

26 July 2017

David Levitt

19

1 reference

26 July 2017

John H Livingston

22

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26 July 2017

Vincent Navarro

23

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26 July 2017

Ericka Okenfuss

24

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26 July 2017

Nicole Revencu

26

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26 July 2017

Marina Vivarelli

28

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26 July 2017

Carine Wouters

29

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26 July 2017

8 March 2016

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Journal of Clinical Immunology

26 July 2017

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26 July 2017

36

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26 July 2017

3

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26 July 2017

220-234

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Creative Commons Attribution 4.0 International

26 July 2017

start time

8 March 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s10875-016-0252-y

0 references

cites work

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Activated STING in a vascular and pulmonary syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Type I interferons (alpha/beta) in immunity and autoimmunity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Nailfold capillary microscopy in healthy children and in childhood rheumatic diseases: a prospective single blind observational study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

The 1982 revised criteria for the classification of systemic lupus erythematosus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Spondyloenchondrodysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Spondylometaphyseal dysplasia in two sibs of normal parents

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4792361

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

Spondyloenchondrodysplasia: clinical variability in three cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0252-Y

Spondyloenchondrodysplasia: several phenotypes--the same syndrome

21 January 2018

1 reference

12 December 2020

A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia

1 reference

12 December 2020

Spondyloenchondrodysplasia

1 reference

12 December 2020

Two peculiar types of enchondromatosis

1 reference

12 December 2020

[Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)]

1 reference

12 December 2020

[Spondylo-enchondrodysplasia]

1 reference

12 December 2020

Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes

1 reference

12 December 2020

Case report 512: Spondyloenchondrodysplasia (SED) in two siblings

1 reference

12 December 2020

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

1 reference

12 December 2020

Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome

1 reference

12 December 2020

Autosomal dominant inheritance of spondyloenchondrodysplasia

1 reference

12 December 2020

10.1007/S10875-016-0252-Y

Identifiers

DOI

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference