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SP0024 Type I Interferonopathies

Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.7-7

Crow, Y.

2016

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SP0120 Trap deficiency, autoimmunity and other mendelian variants of lupus

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.30-30

Crow, Y.

2013

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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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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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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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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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THU0009 Towards precision medicine in connective tissue diseases: genomic and transcriptomic studies

Annals of the rheumatic diseases, 2018-06, Vol.77 (Suppl 2), p.234

2018

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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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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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AB0221 ADA2 Deficiency: Description of a New Mutation for a Surprising Phenotype

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.965-965

2015

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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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Genetic syndromes mimic congenital infections

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

2005

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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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OP0007 Blood Interferon Signature as a Screening For Type I Interferonopathies in Children With Early-Onset SLE and Vasculopathy

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.66-67

2015

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AB1014 Enlarging the Clinical Spectrum of Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.1237-1238

2015

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SAT0514 Mosaic Tetrasomy 9P: A Mendelian Condition Associated with Pediatric-Onset Overlap Myositis

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.846-846

2015

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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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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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Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

Human molecular genetics, 2009-10, Vol.18 (R2), p.R130-R136

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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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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Scientific Business Abstracts of the 112th Annual Meeting of the Association of Physicians of Great Britain and Ireland

QJM : An International Journal of Medicine, 2018-12, Vol.111 (12), p.920-924

2018

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SP0024 Type I Interferonopathies

SP0120 Trap deficiency, autoimmunity and other mendelian variants of lupus

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

Therapies in Aicardi–Goutières syndrome

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

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

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

THU0009 Towards precision medicine in connective tissue diseases: genomic and transcriptomic studies

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

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

AB0221 ADA2 Deficiency: Description of a New Mutation for a Surprising Phenotype

ASPM is a major determinant of cerebral cortical size

Genetic syndromes mimic congenital infections

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

OP0007 Blood Interferon Signature as a Screening For Type I Interferonopathies in Children With Early-Onset SLE and Vasculopathy

AB1014 Enlarging the Clinical Spectrum of Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

SAT0514 Mosaic Tetrasomy 9P: A Mendelian Condition Associated with Pediatric-Onset Overlap Myositis

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

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

Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

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

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

Scientific Business Abstracts of the 112th Annual Meeting of the Association of Physicians of Great Britain and Ireland

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