(Q41925364)

14 October 2017

title

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

1 reference

14 October 2017

Fauré S

1

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14 October 2017

Bordelais I

2

1 reference

14 October 2017

Marquette C

3

1 reference

14 October 2017

Rittey C

4

1 reference

14 October 2017

Campos-Castello J

5

1 reference

14 October 2017

Goutières F

6

1 reference

14 October 2017

Ponsot G

7

1 reference

14 October 2017

Weissenbach J

8

1 reference

14 October 2017

Lebon P

9

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14 October 2017

publication date

1 August 1999

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14 October 2017

number of pages

5

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inferred from page(s)

published in

Clinical Genetics

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14 October 2017

volume

56

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14 October 2017

issue

2

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14 October 2017

page(s)

149-153

1 reference

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

14 October 2017

cites work

1 reference

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

21 January 2018

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

21 January 2018

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Encephalitis among Cree children in northern Quebec

21 January 2018

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

21 January 2018

1 reference

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

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Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Evidence for at least eight Fanconi anemia genes

21 January 2018

1 reference

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

21 January 2018

1 reference

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Aicardi-Goutières syndrome: an expanding phenotype

21 January 2018

1 reference

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A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

7 January 2021

inferred from DOI database lookup

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

7 January 2021

inferred from DOI database lookup

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560210.X

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1034/J.1399-0004.1999.560210.X

1 reference

14 October 2017

1 reference