Search the collection

35 results for Infevers

Sort by:

Sort by

Limit results to:

20 per page

35 results for Infevers

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
AB0915 A Low-Penetrance NLRP3 Variant in A NOD2 Carrier Possibly Worsens The Phenotype of Blau Syndrome
Author / Creator:Galozzi, P. ; Sfriso, P. ; Basso, D. ; Scanu, A. ; Oliviero, F. ; Plebani, M. ; Punzi, L.
Publisher:Kidlington: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.1215
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
THU0472 Successful Administration of Canakinumab in Adult Patients with Autoinflammatory Syndrome Resistant to Previous Treatment
Author / Creator:Zakalka, M. ; Koutourli, K. ; Michailidou, M. ; Lada, F. ; Dimopoulou, D. ; Kontogiannis, V. ; Kotrotsios, A. ; Settas, L. ; Garyfallos, A.
Publisher:Kidlington: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2013-06, Vol.72 (Suppl 3), p.A324
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease
Author / Creator:Gava, A ; Furlan, A ; Navaglia, F ; Miorin, M ; Razetti, M ; Basso, D ; Plebani, M ; Punzi, L
Publisher:Italy
Journal title:Reumatismo, 2009-07, Vol.61 (3), p.187
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion
Author / Creator:Gava, A. ; Furlan, A. ; Navaglia, F. ; Miorin, M. ; Razetti, M. ; Basso, D. ; Plebani, M. ; Punzi, L.
Publisher:PAGEPress Publications
Journal title:Reumatismo, 2011-06, Vol.61 (3), p.187-196
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesFull Text
RE-EVALUATION OF MEFV GENE VARIANTS: UTILITY OF A GENE SPECIFIC THRESHOLD IN REDUCING THE NUMBER OF VARIANTS OF UNKNOWN SIGNIFICANCE
Author / Creator:Accetturo, Matteo ; Angela Maria D’uggento ; Portincasa, Piero ; Stella, Alessandro
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-01
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype
Author / Creator:Batu, Ezgi Deniz ; Sönmez, Hafize Emine ; Bilginer, Yelda ; Özen, Seza
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2018, Vol.60 (6), p.726-728
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
THU0509 First 18 Month Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)
Author / Creator:Mehregan, F. ; Ziaee, V. ; Moradinejad, M.H. ; Aghighi, Y. ; Raeeskarimi, S.R.
Publisher:Kidlington: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.384
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
Author / Creator:Lachmann, H J ; Papa, R ; Gerhold, K ; Obici, L ; Touitou, I ; Cantarini, L ; Frenkel, J ; Anton, J ; Kone-Paut, I ; Cattalini, M ; Bader-Meunier, B ; Insalaco, A ; Hentgen, V ; Merino, R ; Modesto, C ; Toplak, N ; Berendes, R ; Ozen, S ; Cimaz, R ; Jansson, A ; Brogan, P A ; Hawkins, P N ; Ruperto, N ; Martini, A ; Woo, P ; Gattorno, M
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2014-12, Vol.73 (12), p.2160-2167
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
Author / Creator:Moghaddas, Fiona ; Llamas, Rafael ; De Nardo, Dominic ; Martinez-Banaclocha, Helios ; Martinez-Garcia, Juan J ; Mesa-del-Castillo, Pablo ; Baker, Paul J ; Gargallo, Vanessa ; Mensa-Vilaro, Anna ; Canna, Scott ; Wicks, Ian P ; Pelegrin, Pablo ; Arostegui, Juan I ; Masters, Seth L
Publisher:United States: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2017-12, Vol.76 (12), p.2085-2094
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
Determining the origin of different variants associated with familial mediterranean fever by machine-learning
Author / Creator:Adato, Orit ; Brenner, Ronen ; Levy, Avi ; Shinar, Yael ; Shemer, Asaf ; Dvir, Shalem ; Ben-Zvi, Ilan ; Livneh, Avi ; Unger, Ron ; Kivity, Shaye
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-09, Vol.12 (1), p.15206-8, Article 15206
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Clinical significance of MEFV gene variation R202Q
Author / Creator:Yaşar, Kandur ; Kocakap Derya Beyza Sayın ; Alpcan Aysegul ; Tursun Serkan
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical rheumatology, 2022-01, Vol.41 (1), p.271-274
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease
Author / Creator:Yamasaki Yuichi ; Kubota Tomohiro ; Takei Syuji ; Imanaka Hiroyuki ; Nonaka Yukiko ; Kawano Yoshifumi
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical rheumatology, 2021-01, Vol.40 (1), p.393-397
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
IL-1 Inhibitors in the Treatment of Familial Mediterranean Fever: Treatment Indications and Clinical Features in a Large Real-World Cohort
Author / Creator:Yalcin-Mutlu, Melek ; Icacan, Ozan Cemal ; Yildirim, Fatih ; Temiz, Selahattin Alp ; Fagni, Filippo ; Schett, Georg ; Tascilar, Koray ; Minopoulou, Ioanna ; Burul, Gokhan ; Bes, Cemal
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2024-06, Vol.13 (12), p.3375
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
Author / Creator:Caseley, Emily A ; Lara-Reyna, Samuel ; Poulter, James A ; Topping, Joanne ; Carter, Clive ; Nadat Fatima ; Spickett, Gavin P ; Savic Sinisa ; McDermott, Michael F
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2022-01, Vol.42 (1), p.158-170
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesPeer ReviewedFull Text
A novel TNFRSF1A splice mutation associated with increased nuclear factor κappaB (NF-κB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (...
Author / Creator:Churchman, S M ; Church, L D ; Savic, S ; Coulthard, L R ; Hayward, B ; Nedjai, B ; Turner, M D ; Mathews, R J ; Baguley, E ; Hitman, G A ; Gooi, H C ; Wood, P M D ; Emery, P ; McDermott, M F
Publisher:BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2008-11, Vol.67 (11), p.1589-1595
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
Evidence of digenic inheritance in autoinflammation-associated genes
Author / Creator:NEOCLEOUS, VASSOS ; BYROU, STEFANIA ; TOUMBA, MEROPI ; COSTI, CONSTANTINA ; SHAMMAS, CHRISTOS ; KYRIAKOU, CHRISTINA ; CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA ; TANTELES, GEORGE A. ; HADJIPANAYIS, ADAMOS ; PHYLACTOU, LEONIDAS A.
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2016-12, Vol.95 (4), p.761-766
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
Hydatidiform Mole—Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review
Author / Creator:Florea, Andreea ; Caba, Lavinia ; Grigore, Ana-Maria ; Antoci, Lucian-Mihai ; Grigore, Mihaela ; Gramescu, Mihaela I. ; Gorduza, Eusebiu Vlad
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2023-12, Vol.13 (12), p.2314
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF
Author / Creator:Moradian, Mike M. ; Babikyan, Davit ; Banoian, Dion ; Hayrapetyan, Hasmik ; Manvelyan, Hakob ; Avanesian, Nareh ; Sarkisian, Tamara
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2017-11, Vol.5 (6), p.742-750
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 39
ArticlesPeer ReviewedFull Text
Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever
Author / Creator:Kirectepe, Asli K ; Kasapcopur, Ozgur ; Arisoy, Nil ; Celikyapi Erdem, Gokce ; Hatemi, Gulen ; Ozdogan, Huri ; Tahir Turanli, Eda
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2011-08, Vol.12 (1), p.105-105, Article 105
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 40
ArticlesPeer ReviewedFull Text
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma
Author / Creator:Salehzadeh, Farhad ; Barak, Manuchehr ; Hosseiniasl, Saied ; Shahbazfar, Ehsan
Publisher:London, England: SAGE Publications
Journal title:Clinical medicine insights. Case reports, 2019, Vol.12, p.1179547619854705
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 35 results

Export record to excel

Export this record

Export record to excel

AB0915 A Low-Penetrance NLRP3 Variant in A NOD2 Carrier Possibly Worsens The Phenotype of Blau Syndrome

Export this record

Export record to excel

THU0472 Successful Administration of Canakinumab in Adult Patients with Autoinflammatory Syndrome Resistant to Previous Treatment

Export this record

Export record to excel

Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease

Export this record

Export record to excel

Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion

Export this record

Export record to excel

RE-EVALUATION OF MEFV GENE VARIANTS: UTILITY OF A GENE SPECIFIC THRESHOLD IN REDUCING THE NUMBER OF VARIANTS OF UNKNOWN SIGNIFICANCE

Export this record

Export record to excel

A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

Export this record

Export record to excel

THU0509 First 18 Month Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)

Export this record

Export record to excel

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

Export this record

Export record to excel

A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever

Export this record

Export record to excel

Determining the origin of different variants associated with familial mediterranean fever by machine-learning

Export this record

Export record to excel

Clinical significance of MEFV gene variation R202Q

Export this record

Export record to excel

A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease

Export this record

Export record to excel

IL-1 Inhibitors in the Treatment of Familial Mediterranean Fever: Treatment Indications and Clinical Features in a Large Real-World Cohort

Export this record

Export record to excel

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

Export this record

Export record to excel

A novel TNFRSF1A splice mutation associated with increased nuclear factor κappaB (NF-κB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (...

Export this record

Export record to excel

Evidence of digenic inheritance in autoinflammation-associated genes

Export this record

Export record to excel

Hydatidiform Mole—Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review

Export this record

Export record to excel

Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF

Export this record

Export record to excel

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

Export this record

Export record to excel

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Refine your search