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Results: 1 to 20 of 105

1.

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ.

J Med Genet. 2006 May;43(5):444-50. Epub 2005 May 20.

PMID:
15908569
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Aicardi-Goutieres syndrome in siblings.

Koul R, Chacko A, Joshi S, Sankhla D.

J Child Neurol. 2001 Oct;16(10):759-61.

PMID:
11669350
[PubMed - indexed for MEDLINE]
3.

The genetics of Aicardi-Goutières syndrome.

Crow Y.

Eur J Paediatr Neurol. 2002;6 Suppl A:A33-5; discussion A37-9, A77-86. No abstract available.

PMID:
12365359
[PubMed - indexed for MEDLINE]
4.

Aicardi-Goutières syndrome: special type early-onset encephalopathy.

Aicardi J.

Eur J Paediatr Neurol. 2002;6 Suppl A:A1-7; discussion A23-5, A77-86. No abstract available.

PMID:
12365357
[PubMed - indexed for MEDLINE]
5.

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

Lanzi G, Fazzi E, D'Arrigo S.

Eur J Paediatr Neurol. 2002;6 Suppl A:A9-22; discussion A23-5, A77-86.

PMID:
12365365
[PubMed - indexed for MEDLINE]
6.

Aicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.

Lanzi G, D'Arrigo S, Drumbl G, Uggetti C, Fazzi E.

Funct Neurol. 2003 Apr-Jun;18(2):71-5. Review.

PMID:
12911136
[PubMed - indexed for MEDLINE]
7.

Aicardi-Goutières syndrome (AGS).

Stephenson JB.

Eur J Paediatr Neurol. 2008 Sep;12(5):355-8. doi: 10.1016/j.ejpn.2007.11.010. Epub 2008 Mar 14. Review.

PMID:
18343173
[PubMed - indexed for MEDLINE]
8.

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

Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB.

J Med Genet. 1995 Nov;32(11):881-4. Review.

PMID:
8592332
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

PMID:
17846997
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P.

J Med Genet. 2003 Mar;40(3):183-7.

PMID:
12624136
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Aicardi-Goutières syndrome: description of a late onset case.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C.

Dev Med Child Neurol. 2008 Aug;50(8):631-4. doi: 10.1111/j.1469-8749.2008.03033.x.

PMID:
18754903
[PubMed - indexed for MEDLINE]
12.

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

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG.

Am J Hum Genet. 2000 Jul;67(1):213-21. Epub 2000 May 25.

PMID:
10827106
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients.

Izzotti A, Pulliero A, Orcesi S, Cartiglia C, Longobardi MG, Capra V, Lebon P, Cama A, La Piana R, Lanzi G, Fazzi E.

Brain Pathol. 2009 Oct;19(4):650-60. doi: 10.1111/j.1750-3639.2008.00229.x. Epub 2008 Oct 23.

PMID:
19016741
[PubMed - indexed for MEDLINE]
14.

Aicardi-Goutières syndrome: an expanding phenotype.

McEntagart M, Kamel H, Lebon P, King MD.

Neuropediatrics. 1998 Jun;29(3):163-7.

PMID:
9706629
[PubMed - indexed for MEDLINE]
15.

Aicardi-Goutières syndrome--observations of the Glasgow school.

Stephenson JB.

Eur J Paediatr Neurol. 2002;6 Suppl A:A67-70; discussion A37-9, A55-8, A65-6. No abstract available.

PMID:
12365363
[PubMed - indexed for MEDLINE]
16.

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

Fauré S, Bordelais I, Marquette C, Rittey C, Campos-Castello J, Goutières F, Ponsot G, Weissenbach J, Lebon P.

Clin Genet. 1999 Aug;56(2):149-53.

PMID:
10517253
[PubMed - indexed for MEDLINE]
17.

Aicardi-Goutieres syndrome.

Orcesi S, La Piana R, Fazzi E.

Br Med Bull. 2009;89:183-201. doi: 10.1093/bmb/ldn049. Epub 2009 Jan 7. Review.

PMID:
19129251
[PubMed - indexed for MEDLINE]
18.

Aicardi-Goutières syndrome.

Goutières F.

Brain Dev. 2005 Apr;27(3):201-6. Review.

PMID:
15737701
[PubMed - indexed for MEDLINE]
19.

The neuropathology of Aicardi-Goutières syndrome.

Barth PG.

Eur J Paediatr Neurol. 2002;6 Suppl A:A27-31; discussion A37-9, A77-86.

PMID:
12365358
[PubMed - indexed for MEDLINE]
20.

Aicardi-Goutières syndrome: a genetic microangiopathy?

Barth PG, Walter A, van Gelderen I.

Acta Neuropathol. 1999 Aug;98(2):212-6.

PMID:
10442562
[PubMed - indexed for MEDLINE]

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