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Items: 34

1.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
2.

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ.

Neuropediatrics. 2019 Nov 28. doi: 10.1055/s-0039-3400979. [Epub ahead of print]

PMID:
31779033
3.

RNASEH2B Related Adult-Onset Interferonopathy.

Briggs TA, Paul A, Rice G, Herrick AL.

J Clin Immunol. 2019 Aug;39(6):620-622. doi: 10.1007/s10875-019-00673-w. Epub 2019 Jul 31. No abstract available.

PMID:
31367981
4.

Disease modelling of core pre-mRNA splicing factor haploinsufficiency.

Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges K, Newman WG, O'Keefe RT.

Hum Mol Genet. 2019 Jul 13. pii: ddz169. doi: 10.1093/hmg/ddz169. [Epub ahead of print]

PMID:
31304552
5.

Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles.

Reynolds JA, Briggs TA, Rice GI, Darmalinggam S, Bondet V, Bruce E, Khan M, Haque S, Chinoy H, Herrick AL, McCarthy EM, Zeef L, Hayes A, Duffy D, Parker B, Bruce IN.

Arthritis Res Ther. 2019 Jun 14;21(1):147. doi: 10.1186/s13075-019-1929-4.

6.

DDX58 and Classic Singleton-Merten Syndrome.

Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA.

J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20.

7.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL.

J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.

8.

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

McDermott JH, Study DDD, Clayton-Smith J, Briggs TA.

Eur J Med Genet. 2018 May;61(5):253-256. doi: 10.1016/j.ejmg.2017.12.009. Epub 2017 Dec 27.

PMID:
29288087
9.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

10.

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, McGlasson SL, Alyanakian MA, Bader-Meunier B, Barnerias C, Bellon N, Belot A, Bodemer C, Briggs TA, Desguerre I, Frémond ML, Hully M, van den Maagdenberg AMJM, Melki I, Meyts I, Musset L, Pelzer N, Quartier P, Terwindt GM, Wardlaw J, Wiseman S, Rieux-Laucat F, Rose Y, Neven B, Hertel C, Hayday A, Albert ML, Rozenberg F, Crow YJ, Duffy D.

J Exp Med. 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18.

11.

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, Oojageer A, Bader-Meunier B, Belot A, Bodemer C, Quartier P, Crow YJ.

J Clin Immunol. 2017 Feb;37(2):123-132. doi: 10.1007/s10875-016-0359-1. Epub 2016 Dec 9.

12.

Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.

An J, Durcan L, Karr RM, Briggs TA, Rice GI, Teal TH, Woodward JJ, Elkon KB.

Arthritis Rheumatol. 2017 Apr;69(4):800-807. doi: 10.1002/art.40002. Epub 2017 Mar 7.

13.

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.

Sacri AS, Bruwier A, Baujat G, Breton S, Blanche S, Briggs TA, Bader-Meunier B.

Pediatr Blood Cancer. 2017 Feb;64(2):306-310. doi: 10.1002/pbc.26195. Epub 2016 Oct 8.

PMID:
27718324
14.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C.

J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29.

PMID:
27572252
15.

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.

An J, Briggs TA, Dumax-Vorzet A, Alarcón-Riquelme ME, Belot A, Beresford M, Bruce IN, Carvalho C, Chaperot L, Frostegård J, Plumas J, Rice GI, Vyse TJ, Wiedeman A, Crow YJ, Elkon KB.

Arthritis Rheumatol. 2017 Jan;69(1):131-142. doi: 10.1002/art.39810. Epub 2016 Dec 2.

16.

Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus.

Reynolds JA, Rosenberg AZ, Smith CK, Sergeant JC, Rice GI, Briggs TA, Bruce IN, Kaplan MJ.

Arthritis Rheumatol. 2016 Dec;68(12):2929-2935. doi: 10.1002/art.39803.

17.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Jul;36(5):529-530. No abstract available.

18.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. Erratum in: J Clin Immunol. 2016 Jul;36(5):529-30.

19.

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

Briggs TA, Lokulo-Sodipe K, Chandler KE, Mackay DJ, Temple IK.

Am J Med Genet A. 2016 Jan;170A(1):170-5. doi: 10.1002/ajmg.a.37400. Epub 2015 Sep 23.

PMID:
26395259
20.

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

Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice GI, Hur S, Crow YJ.

Br J Dermatol. 2015 Dec;173(6):1505-13. doi: 10.1111/bjd.14073. Epub 2015 Oct 29.

21.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
22.

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic.

Briggs TA, Harris J, Innes J, Will A, Arkwright PD, Clayton-Smith J.

Arch Dis Child. 2015 Aug;100(8):728-31. doi: 10.1136/archdischild-2014-307680. Epub 2015 Mar 25. No abstract available.

PMID:
25809346
23.

Cerebral screening in patients with hereditary haemorrhagic telangiectasia.

Jackson A, Briggs TA, Clayton-Smith J.

Intern Med J. 2014 Oct;44(10):1047. doi: 10.1111/imj.12529. No abstract available.

PMID:
25302728
24.

Osteopontin - a biomarker for organ damage in paediatric lupus?

Briggs TA.

Arthritis Res Ther. 2013 Mar 8;15(2):110. doi: 10.1186/ar4172.

25.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.

Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.

26.

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

Briggs TA, Hubbard M, Hawkins C, Cole T, Livingston JH, Crow YJ, Pigott A.

Mol Syndromol. 2011 Jan;1(4):159-162. Epub 2010 Nov 9.

27.

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ.

Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9.

28.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.

Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14.

29.

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

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ.

Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614.

PMID:
19012351
30.

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ.

Am J Med Genet A. 2008 Nov 1;146A(21):2810-5. doi: 10.1002/ajmg.a.32518.

PMID:
18924170
31.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ.

Am J Med Genet A. 2008 Jan 15;146A(2):182-90.

PMID:
18076099
32.

Controlled clinical trials in cystic fibrosis--are we doing better?

Briggs TA, Bryant M, Smyth RL.

J Cyst Fibros. 2006 Jan;5(1):3-8. Epub 2005 Nov 3.

33.

Where some of the others stand: an update on saccharin, cyclamates, xylitol.

Briggs TA.

Dent Abstr. 1985 Feb;30(2):79. No abstract available.

PMID:
3855766
34.

How sweet is it?

Briggs TA.

Dent Abstr. 1985 Feb;30(2):76-8. No abstract available.

PMID:
3855765

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