Therapies in Aicardi–Goutières syndrome
Crow, Y. J., Vanderver, A., Orcesi, S., Kuijpers, T. W., Rice, G. I.
Published in Clinical and experimental immunology (01.01.2014)
Published in Clinical and experimental immunology (01.01.2014)
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Journal Article
Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes
Bursztejn, A.‐C., Briggs, T.A., del Toro Duany, Y., Anderson, B.H., O'Sullivan, J., Williams, S.G., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G.I., Hur, S., Crow, Y.J.
Published in British journal of dermatology (1951) (01.12.2015)
Published in British journal of dermatology (1951) (01.12.2015)
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Journal Article
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters
Uettwiller, F, Sarrabay, G, Rodero, M P, Rice, G I, Lagrue, E, Marot, Y, Deiva, K, Touitou, I, Crow, Y J, Quartier, P
Published in Rheumatic & musculoskeletal diseases open (01.01.2016)
Published in Rheumatic & musculoskeletal diseases open (01.01.2016)
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Journal Article
Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up
Uggetti, C, La Piana, R, Orcesi, S, Egitto, M.G, Crow, Y.J, Fazzi, E
Published in American journal of neuroradiology : AJNR (01.11.2009)
Published in American journal of neuroradiology : AJNR (01.11.2009)
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Journal Article
THU0009 Towards precision medicine in connective tissue diseases: genomic and transcriptomic studies
Briggs, T., Reynolds, J.A., Rice, G., Bondet, V., Bruce, E., Crow, Y., Duffy, D., Parker, B., Bruce, I.N.
Published in Annals of the rheumatic diseases (01.06.2018)
Published in Annals of the rheumatic diseases (01.06.2018)
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Journal Article
Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria
Jenkinson, E.M., Livingston, J.H., O'Driscoll, M.C., Desguerre, I., Nabbout, R., Boddaert, N., Soares, G., Gonçalves da Rocha, M., D'Arrigo, S., Rice, G.I., Crow, Y.J.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Journal Article
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy
Troedson, C, Wong, M, Dalby-Payne, J, Wilson, M, Dexter, M, Rice, GI, Crow, YJ, Dale, RC
Published in Lupus (01.05.2013)
Published in Lupus (01.05.2013)
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Journal Article
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene
James, P A, Cader, M Z, Muntoni, F, Childs, A-M, Crow, Y J, Talbot, K
Published in Neurology (14.11.2006)
Published in Neurology (14.11.2006)
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Journal Article
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism
Crow, Y J, Black, D N, Ali, M, Bond, J, Jackson, A P, Lefson, M, Michaud, J, Roberts, E, Stephenson, J B P, Woods, C G, Lebon, P
Published in Journal of medical genetics (01.03.2003)
Published in Journal of medical genetics (01.03.2003)
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Journal Article
Interféronopathies de type I
Munoz, J., Marque, M., Dandurand, M., Meunier, L., Crow, Y.-J., Bessis, D.
Published in Annales de dermatologie et de vénéréologie (01.11.2015)
Published in Annales de dermatologie et de vénéréologie (01.11.2015)
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Journal Article
AB0221 ADA2 Deficiency: Description of a New Mutation for a Surprising Phenotype
Uettwiller, F., Rodero, M., Sarrabay, G., Marot, Y., Quartier, P., Crow, Y.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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Journal Article
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
Childs, A-M, Hutchin, T, Pysden, K, Highet, L, Bamford, J, Livingston, J, Crow, Y J
Published in Neuropediatrics (01.12.2007)
Published in Neuropediatrics (01.12.2007)
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Journal Article
Familial chilblain lupus: Four cases spanning three generations
Beltoise, A-S, Audouin-Pajot, C, Lucas, P, Tournier, E, Rice, G-I, Crow, Y-J, Mazereeuw-Hautier, J
Published in Annales de dermatologie et de vénéréologie (01.11.2018)
Published in Annales de dermatologie et de vénéréologie (01.11.2018)
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Journal Article
AB1014 Enlarging the Clinical Spectrum of Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Caorsi, R., Rice, G., Cardinale, F., Volpi, S., Buoncompagni, A., Crow, Y., Martini, A., Gattorno, M., Picco, P.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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Journal Article
OP0007 Blood Interferon Signature as a Screening For Type I Interferonopathies in Children With Early-Onset SLE and Vasculopathy
Volpi, S., Santori, E., Picco, P., Rice, G., Caorsi, R., Martini, A., Crow, Y., Gattorno, M., Candotti, F.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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Journal Article
Type I interferonopathies
Munoz, J, Marque, M, Dandurand, M, Meunier, L, Crow, Y-J, Bessis, D
Published in Annales de dermatologie et de vénéréologie (01.11.2015)
Published in Annales de dermatologie et de vénéréologie (01.11.2015)
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Journal Article