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Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

Pediatric rheumatology online journal, 2020-05, Vol.18 (1), p.37-37, Article 37

2020

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Therapies in Aicardi–Goutières syndrome

Clinical and experimental immunology, 2014-01, Vol.175 (1), p.1-8

2014

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Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up

American journal of neuroradiology : AJNR, 2009-11, Vol.30 (10), p.1971-1976

2009

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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Rheumatic & musculoskeletal diseases open, 2016-01, Vol.2 (1), p.e000236-e000236

2016

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Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

Clinical genetics, 2018-02, Vol.93 (2), p.228-234

2018

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Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

Neurology, 2006-11, Vol.67 (9), p.1710-1712

2006

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Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

Lupus, 2013-05, Vol.22 (6), p.639-643

2013

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

Journal of medical genetics, 2003-03, Vol.40 (3), p.183-187

2003

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190

2008

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Genetic syndromes mimic congenital infections

The Journal of pediatrics, 2005-05, Vol.146 (5), p.701-705

2005

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Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes

British journal of dermatology (1951), 2015-12, Vol.173 (6), p.1505-1513

2015

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The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection

Early human development, 2008-12, Vol.84 (12), p.783-785

2008

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Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3173-3180

2008

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Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2810-2815

2008

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A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

Journal of medical genetics, 2006-05, Vol.43 (5), p.444-450

2006

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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Journal of medical genetics, 2004-08, Vol.41 (8), p.e102-e102

2004

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Aicardi-Goutières syndrome presenting with haematemesis in infancy

Acta Paediatrica, 2009-12, Vol.98 (12), p.2005-2008

2009

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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Neuropediatrics, 2004-02, Vol.35 (1), p.10-19

2004

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Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

American journal of human genetics, 2000-07, Vol.67 (1), p.213-221

2000

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ASPM is a major determinant of cerebral cortical size

Nature genetics, 2002-10, Vol.32 (2), p.316-320

2002

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Familial chilblain lupus: Four cases spanning three generations

Annales de dermatologie et de vénéréologie, 2018-11, Vol.145 (11), p.683-689

2018

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Type I interferonopathies

Annales de dermatologie et de vénéréologie, 2015-11, Vol.142 (11), p.653-663

2015

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Natural history of cardiac involvement in geleophysic dysplasia

American journal of medical genetics. Part A, 2005-01, Vol.132A (3), p.320-323

2005

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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

American journal of human genetics, 2002-07, Vol.71 (1), p.136-142

2002

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Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

Molecular syndromology, 2011-01, Vol.1 (4), p.159-162

2011

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Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

Therapies in Aicardi–Goutières syndrome

Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

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

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Genetic syndromes mimic congenital infections

Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Aicardi-Goutières syndrome presenting with haematemesis in infancy

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

ASPM is a major determinant of cerebral cortical size

Familial chilblain lupus: Four cases spanning three generations

Type I interferonopathies

Natural history of cardiac involvement in geleophysic dysplasia

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

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