Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. (Q24538729)

5 July 2017

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Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. (English)

1 reference

5 July 2017

1 reference

26

Woods CG

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5 July 2017

Crow YJ

1

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5 July 2017

Jackson AP

2

1 reference

5 July 2017

Roberts E

3

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5 July 2017

van Beusekom E

4

1 reference

5 July 2017

Barth P

5

1 reference

5 July 2017

Corry P

6

1 reference

5 July 2017

Ferrie CD

7

1 reference

5 July 2017

Hamel BC

8

1 reference

5 July 2017

Jayatunga R

9

1 reference

5 July 2017

Karbani G

10

1 reference

5 July 2017

Kálmánchey R

11

1 reference

5 July 2017

Kelemen A

12

1 reference

5 July 2017

King M

13

1 reference

5 July 2017

Kumar R

14

1 reference

5 July 2017

Livingstone J

15

1 reference

5 July 2017

Massey R

16

1 reference

5 July 2017

McWilliam R

17

1 reference

5 July 2017

Meager A

18

1 reference

5 July 2017

Rittey C

19

1 reference

5 July 2017

Stephenson JB

20

1 reference

5 July 2017

Tolmie JL

21

1 reference

5 July 2017

Verrips A

22

1 reference

5 July 2017

Voit T

23

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5 July 2017

van Bokhoven H

24

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5 July 2017

Brunner HG

25

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5 July 2017

language of work or name

English

0 references

publication date

25 May 2000

1 reference

American Journal of Human Genetics

5 July 2017

published in

1 reference

5 July 2017

volume

67

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5 July 2017

issue

1

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5 July 2017

page(s)

213-221

1 reference

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Cytokines and JAK-STAT signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Raynaud's phenomenon and digital necrosis induced by interferon-alpha

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Severe Raynaud's syndrome associated with interferon therapy. A case history

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Aicardi-Goutières syndrome: a genetic microangiopathy?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Are all type I human interferons equivalent?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Microcephaly and intracranial calcification in two brothers.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Two siblings with microcephaly associated with calcification of cerebral white matter

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Encephalopathy of Infancy with Intracerebral Calcification and Chronic Spinal Fluid Lymphocytosis - Another Case of the Aicardi-Goutières Syndrome

30 May 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

30 May 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

29 November 2018

https://api.crossref.org/works/10.1086%2F302955

7 January 2021

inferred from DOI database lookup

Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Aicardi-Goutières syndrome: an expanding phenotype

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

Acrocyanosis induced by interferon alpha(2a).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

The Aircardi-Goutières syndrome: variable clinical expression in two siblings

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287108

[Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case]

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10827106

12 December 2020

inferred from PubMed ID database lookup

Microcephaly and intracranial calcification: two new cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10827106

12 December 2020

inferred from PubMed ID database lookup

Interferon-alpha may exacerbate cryoblobulinemia-related ischemic manifestations: an adverse effect potentially related to its anti-angiogenic activity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10827106

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302955

1 reference

5 July 2017

1 reference

5 July 2017

1 reference