MEFV c.2282G>A ;(p.R761H)

Variant ID: 16-3293205-C-T

NM_000243.2(MEFV):c.2282G>A;(p.R761H)

This variant was identified in 123 publications

View GRCh38 version.




Publications:


Juvenile idiopathic arthritis with systemic onset with inflammatory bone lesions: two case reports of patients successfully treated with canakinumab and experience gained from literature.

Frontiers In Pediatrics
Alexeeva, Ekaterina I EI; Dvoryakovskaya, Tatyana M TM; Tsulukiya, Irina T IT; Kondrateva, Natalia M NM; Solomatina, Natalia M NM; Kondratiev, Gleb V GV; Peshekhonova, Luliia V LV; Kostik, Mikhail M MM
Publication Date: 2023

Variant appearance in text: MEFV: 2282G>A; R761H
PubMed Link: 37325364
Variant Present in the following documents:
  • Main text
  • fped-11-1163483.pdf
View BVdb publication page



Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia.

Frontiers In Oncology
Yuan, Wei W; Shang, Zhen Z; Shen, Kefeng K; Yu, Qiuxia Q; Lv, Qiuxia Q; Cao, Yang Y; Wang, Jue J; Yang, Yi Y
Publication Date: 2023

Variant appearance in text: MEFV: 2282G>A; Arg761His; rs104895097
PubMed Link: 36998465
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
View BVdb publication page



Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: MEFV: 2282G>A; Arg761His
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: MEFV: 2282G>A; Arg761His
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Apical fibrosis was the most common incidental pulmonary finding in a familial Mediterranean fever cohort.

Clinical Rheumatology
Şen, Nesrin N; Acer Kasman, Sevtap S; Baysal, Tamer T; Dizman, Rıdvan R; Yılmaz-Öner, Sibel S; Tezcan, Mehmet Engin ME
Publication Date: 2023-02-01

Variant appearance in text: FMF: R761H
PubMed Link: 36725780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.

Iranian Journal Of Medical Sciences
Salehzadeh, Farhad F; Pourfarzi, Farhad F; Molatefi, Rasool R; Davarnia, Behzad B; Shahbazfar, Ehsan E; Ahmadabadi, Farzad F
Publication Date: 2023-01

Variant appearance in text: MEFV: R761H
PubMed Link: 36688196
Variant Present in the following documents:
  • Main text
  • IJMS-48-43.pdf
View BVdb publication page



Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.

Current Issues In Molecular Biology
Zekry, May E ME; Sallam, Al-Aliaa M AM; AbdelHamid, Sherihan G SG; Zarouk, Waheba A WA; El-Bassyouni, Hala T HT; El-Mesallamy, Hala O HO
Publication Date: 2023-01-13

Variant appearance in text: MEFV: R761H
PubMed Link: 36661534
Variant Present in the following documents:
  • Main text
  • cimb-45-00048.pdf
View BVdb publication page



Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.

Children (Basel, Switzerland)
Omran, Ahmed A; Abdelrahman, Ahmed A; Mohamed, Yasmine Gabr YG; Abdalla, Mohamed Osama MO; Abdel-Hamid, Eman R ER; Elfiky, Samar S
Publication Date: 2022-10-29

Variant appearance in text: MEFV: R761H
PubMed Link: 36360382
Variant Present in the following documents:
  • Main text
  • children-09-01654.pdf
View BVdb publication page



Periodic Fever in Children: Etiology and Diagnostic Challenges.

Cureus
Espin Diaz, Paola Carolina PC; Singh, Kawaljeet K; Kher, Pawani P; Avanthika, Chaithanya C; Jhaveri, Sharan S; Saad, Yosra Y; Ghosh, Shankhaneel S
Publication Date: 2022-07

Variant appearance in text: MEFV: R761H
PubMed Link: 36035053
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000027239.pdf
View BVdb publication page



COVID-19 in Familial Mediterranean Fever: Clinical Course and Complications Related to Primary Disease.

Modern Rheumatology
Avanoglu Guler, Aslihan A; Yuce Inel, Tuba T; Kasifoglu, Timucin T; Coskun, Cansu C; Karadeniz, Hazan H; Yildirim, Derya D; Bilici, Reyhan R; Satis, Hasan H; Kucuk, Hamit H; Haznedaroglu, Seminur S; Goker, Berna B; Ozturk, Mehmet Akif MA; Sari, Ismail I; Tufan, Abdurrahman A
Publication Date: 2022-07-21

Variant appearance in text: FMF: R761H
PubMed Link: 35860978
Variant Present in the following documents:
  • Main text
  • roac074.pdf
View BVdb publication page



Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

The Pan African Medical Journal
Missoum, Hakima H; Adadi, Najlae N; Alami, Mohammed M; Toufik, Hamza H; Bouyahya, Abdelhakim A; Laarabi, Fatima-Zahra FZ; Bachir, Fatima F; Maghraoui, Abdellah El AE; Bakri, Youssef Y
Publication Date: 2022

Variant appearance in text: MEFV: R761H
PubMed Link: 35480407
Variant Present in the following documents:
  • PAMJ-41-121.pdf
View BVdb publication page



Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.

Plos One
Schmidt, Jonas J; Berghaus, Sandro S; Blessing, Frithjof F; Herbeck, Holger H; Blessing, Josef J; Schierack, Peter P; Rödiger, Stefan S; Roggenbuck, Dirk D; Wenzel, Folker F
Publication Date: 2022

Variant appearance in text: MEFV: 2282G>A
PubMed Link: 35298548
Variant Present in the following documents:
  • Main text
  • pone.0265622.pdf
View BVdb publication page



Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.

Frontiers In Pediatrics
Öztürk, Kübra K; Coşkuner, Taner T; Baglan, Esra E; Sönmez, Hafize Emine HE; Yener, Gülçin Otar GO; Çakmak, Figen F; Demirkan, Fatma Gül FG; Tanatar, Ayşe A; Karadag, Serife Gül SG; Ozdel, Semanur S; Demir, Ferhat F; Çakan, Mustafa M; Aktay Ayaz, Nuray N; Sözeri, Betül B
Publication Date: 2021

Variant appearance in text: MEFV: R761H
PubMed Link: 35127599
Variant Present in the following documents:
  • Main text
  • fped-09-805919.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: MEFV: R761H; rs104895097
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Prediction of More Severe MEFV Gene Mutations in Childhood.

Turkish Archives Of Pediatrics
Güneş-Yılmaz, Seviye S; Kasap-Demir, Belde B; Soyaltın, Eren E; Erfidan, Gökçen G; Özdemir-Şimşek, Özgür Ö; Arslansoyu-Çamlar, Seçil S; Alaygut, Demet D; Mutlubaş, Fatma F
Publication Date: 2021-11

Variant appearance in text: FMF: R761H
PubMed Link: 35110061
Variant Present in the following documents:
  • Main text
  • tap-56-6-610.pdf
View BVdb publication page



Innate-Immunity Genes in Obesity.

Journal Of Personalized Medicine
Mikhailova, Svetlana V SV; Ivanoshchuk, Dinara E DE
Publication Date: 2021-11-14

Variant appearance in text: rs104895097
PubMed Link: 34834553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease.

Gastroenterology Research And Practice
Sahin, S S; Gulec, D D; Günay, S S; Cekic, C C
Publication Date: 2021

Variant appearance in text: FMF: R761H
PubMed Link: 34819953
Variant Present in the following documents:
  • Main text
  • GRP2021-5538150.pdf
View BVdb publication page



Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021.

Pediatric Rheumatology Online Journal
Publication Date: 2021-11-08

Variant appearance in text: FMF: R761H
PubMed Link: 34749725
Variant Present in the following documents:
  • Main text
View BVdb publication page



A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.

Stem Cell Reports
Schaniel, Christoph C; Dhanan, Priyanka P; Hu, Bin B; Xiong, Yuguang Y; Raghunandan, Teeya T; Gonzalez, David M DM; Dariolli, Rafael R; D'Souza, Sunita L SL; Yadaw, Arjun S AS; Hansen, Jens J; Jayaraman, Gomathi G; Mathew, Bino B; Machado, Moara M; Berger, Seth I SI; Tripodi, Joseph J; Najfeld, Vesna V; Garg, Jalaj J; Miller, Marc M; Surlyn, Colleen S CS; Michelis, Katherine C KC; Tangirala, Neelima C NC; Weerahandi, Himali H; Thomas, David C DC; Beaumont, Kristin G KG; Sebra, Robert R; Mahajan, Milind M; Schadt, Eric E; Vidovic, Dusica D; Schürer, Stephan C SC; Goldfarb, Joseph J; Azeloglu, Evren U EU; Birtwistle, Marc R MR; Sobie, Eric A EA; Kovacic, Jason C JC; Dubois, Nicole C NC; Iyengar, Ravi R
Publication Date: 2021-12-14

Variant appearance in text: MEFV: 2282G>A; rs104895097
PubMed Link: 34739849
Variant Present in the following documents:
  • mmc8.xlsx, sheet 1
View BVdb publication page



Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.

Frontiers In Pediatrics
Yücel, Burcu Bozkaya BB; Aydog, Ozlem O; Nalcacioglu, Hulya H; Yılmaz, Ayşegül A
Publication Date: 2021

Variant appearance in text: MEFV: R761H
PubMed Link: 34568239
Variant Present in the following documents:
  • Main text
  • fped-09-710501.pdf
View BVdb publication page



Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

Journal Of Clinical Medicine
Arici, Zehra Serap ZS; Romano, Micol M; Piskin, David D; Guzel, Ferhat F; Sahin, Sezgin S; Berard, Roberta A RA; Yilmaz, Mahmut I MI; Demirkaya, Erkan E
Publication Date: 2021-08-10

Variant appearance in text: MEFV: R761H
PubMed Link: 34441808
Variant Present in the following documents:
  • Main text
  • jcm-10-03511.pdf
View BVdb publication page



Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

International Journal Of Molecular Sciences
Di Donato, Giulia G; d'Angelo, Debora Mariarita DM; Breda, Luciana L; Chiarelli, Francesco F
Publication Date: 2021-06-14

Variant appearance in text: MEFV: 2282G>A
PubMed Link: 34198614
Variant Present in the following documents:
  • Main text
  • ijms-22-06360.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: MEFV: 2282G>A; Arg761His; rs104895097
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The impact of COVID-19 on familial Mediterranean fever: a nationwide study.

Rheumatology International
Günendi, Zafer Z; Yurdakul, Fatma Gül FG; Bodur, Hatice H; Cengiz, Ahmet Kıvanç AK; Uçar, Ülkü Ü; Çay, Hasan Fatih HF; Şen, Nesrin N; Keskin, Yaşar Y; Gürer, Gülcan G; Melikoğlu, Meltem Alkan MA; Altıntaş, Duygu D; Deveci, Hülya H; Baykul, Merve M; Nas, Kemal K; Çevik, Remzi R; Karahan, Ali Yavuz AY; Toprak, Murat M; Ketenci, Sertaç S; Nayimoğlu, Mehmet M; Sezer, İlhan İ; Demir, Ali Nail AN; Ecesoy, Hilal H; Duruöz, Mehmet Tuncay MT; Yurdakul, Ozan Volkan OV; Sarıfakıoğlu, Ayşe Banu AB; Ataman, Şebnem Ş
Publication Date: 2021-08

Variant appearance in text: FMF: R761H
PubMed Link: 34032894
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.

Molecular Biology Reports
Arpacı, Abdullah A; Doğan, Serdar S; Erdoğan, Hazal Fatma HF; El, Çiğdem Ç; Cura, Sibel Elmacıoğlu SE
Publication Date: 2021-03

Variant appearance in text: MEFV: R761H
PubMed Link: 33738724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Turkish Journal Of Medical Sciences
Sarı, Alper A; Bodakçi, Erdal E; Armağan, Berkan B; Satış, Hasan H; Ataş, Nuh N; Yaşar Bilge, Nazife Şule NŞ; Bilici Salman, Reyhan R; Yardımcı, Gözde Kübra GK; Babaoğlu, Hakan H; Kılıç, Levent L; Öztürk, Mehmet Akif MA; Haznedaroğlu, Şeminur Ş; Göker, Berna B; Kalyoncu, Umut U; Kaşifoğlu, Timuçin T; Tufan, Abdurrahman A
Publication Date: 2021-08-30

Variant appearance in text: MEFV: R761H
PubMed Link: 33726481
Variant Present in the following documents:
  • Main text
  • turkjmedsci-51-1695.pdf
View BVdb publication page



Familial Mediterranean Fever and COVID-19: Friends or Foes?

Frontiers In Immunology
Stella, Alessandro A; Lamkanfi, Mohamed M; Portincasa, Piero P
Publication Date: 2020

Variant appearance in text: FMF: R761H
PubMed Link: 33072117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: MEFV: R761H
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Gut Microbiota between Environment and Genetic Background in Familial Mediterranean Fever (FMF).

Genes
Di Ciaula, Agostino A; Stella, Alessandro A; Bonfrate, Leonilde L; Wang, David Q H DQH; Portincasa, Piero P
Publication Date: 2020-09-03

Variant appearance in text: MEFV: R761H
PubMed Link: 32899315
Variant Present in the following documents:
  • Main text
  • genes-11-01041.pdf
View BVdb publication page



Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.

Medical Sciences (Basel, Switzerland)
El Roz, Ali A; Ghssein, Ghassan G; Khalaf, Batoul B; Fardoun, Taher T; Ibrahim, José-Noel JN
Publication Date: 2020-08-17

Variant appearance in text: FMF: R761H
PubMed Link: 32824452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent synovitis of hip and MEFV gene related arthritis in children.

Pediatric Rheumatology Online Journal
Salehzadeh, Farhad F; Mirzarahimi, Mehrdad M
Publication Date: 2020-08-10

Variant appearance in text: MEFV: R761H
PubMed Link: 32778116
Variant Present in the following documents:
  • Main text
  • 12969_2020_Article_456.pdf
View BVdb publication page



Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

Archives Of Rheumatology
PaÇ Kisaarslan, Ayşenur A; SÖzerİ, Betül B; Şahİn, Nihal N; Özdemİr ÇİÇek, Sümeyra S; GÜndÜz, Zübeyde Z; Demİrkaya, Erkan E; Berdelİ, Afig A; Sadet Özcan, Serdal S; PorazoĞlu, Hakan H; DÜŞÜnsel, Ruhan R
Publication Date: 2020-03

Variant appearance in text: MEFV: R761H
PubMed Link: 32637927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever.

Archives Of Rheumatology
Demİr, Ferhat F; Çebİ, Alper Han AH; Kalyoncu, Mukaddes M
Publication Date: 2020-03

Variant appearance in text: MEFV: R761H
PubMed Link: 32637920
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coexisting Diseases in Patients with Familial Mediterranean Fever.

Open Access Rheumatology : Research And Reviews
Salehzadeh, Farhad F; Enteshari Moghaddam, Afsaneh A
Publication Date: 2020

Variant appearance in text: MEFV: R761H
PubMed Link: 32547265
Variant Present in the following documents:
  • Main text
  • oarrr-12-65.pdf
View BVdb publication page



The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal
Zhong, Linqing L; Wang, Wei W; Li, Ji J; Ma, Mingsheng M; Gou, Lijuan L; Wang, Changyan C; Yu, Zhongxun Z; Zhang, Tiannan T; Dong, Yanqing Y; Wei, Qijiao Q; Song, Hongmei H
Publication Date: 2020-05-12

Variant appearance in text: MEFV: R761H; rs104895097
PubMed Link: 32398039
Variant Present in the following documents:
  • 12969_2020_427_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: MEFV: 2282G>A; rs104895097
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Annals Of The Rheumatic Diseases
Van Gorp, Hanne H; Huang, Linyan L; Saavedra, Pedro P; Vuylsteke, Marnik M; Asaoka, Tomoko T; Prencipe, Giusi G; Insalaco, Antonella A; Ogunjimi, Benson B; Jeyaratnam, Jerold J; Cataldo, Ilaria I; Jacques, Peggy P; Vermaelen, Karim K; Dullaers, Melissa M; Joos, Rik R; Sabato, Vito V; Stella, Alessandro A; Frenkel, Joost J; De Benedetti, Fabrizio F; Dehoorne, Joke J; Haerynck, Filomeen F; Calamita, Giuseppe G; Portincasa, Piero P; Lamkanfi, Mohamed M
Publication Date: 2020-07

Variant appearance in text: FMF: R761H
PubMed Link: 32312770
Variant Present in the following documents:
  • Main text
  • annrheumdis-2019-216701supp001.pdf
  • annrheumdis-2019-216701.pdf
View BVdb publication page



Familial Mediterranean fever in Jordanian Children: single centre experience.

Mediterranean Journal Of Rheumatology
Alzyoud, Raed R; Alsweiti, Motasem M; Maittah, Hiba H; Zreqat, Ehab E; Alwahadneh, Adel A; Abu-Shukair, Mohammed M; Habahbeh, Lana L; Mutereen, Mohammed M
Publication Date: 2018-12

Variant appearance in text: MEFV: R761H
PubMed Link: 32185329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: MEFV: 2282G>A; rs104895097
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
View BVdb publication page



FMF is not always "fever": from clinical presentation to "treat to target".

Italian Journal Of Pediatrics
Maggio, Maria Cristina MC; Corsello, Giovanni G
Publication Date: 2020-01-15

Variant appearance in text: MEFV: R761H
PubMed Link: 31941537
Variant Present in the following documents:
  • Main text
  • 13052_2019_Article_766.pdf
View BVdb publication page



Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.

Annals Of Saudi Medicine
Yildirim, Malik Ejder ME; Kurtulgan, Hande Kucuk HK; Ozdemir, Ozturk O; Kilicgun, Hasan H; Aydemir, Didem S DS; Baser, Burak B; Sezgin, Ilhan I
Publication Date: 2019

Variant appearance in text: MEFV: R761H
PubMed Link: 31804137
Variant Present in the following documents:
  • Main text
  • 0256-4947.2019.382.pdf
View BVdb publication page



The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.

The Eurasian Journal Of Medicine
Celep, Gokce G; Durmaz, Zeynep Hulya ZH; Erdogan, Yalciner Y; Akpinar, Seviye S; Kaya, Saban Abdullah SA; Guckan, Rıdvan R
Publication Date: 2019-10

Variant appearance in text: FMF: R761H
PubMed Link: 31692716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Update on the management of colchicine resistant Familial Mediterranean Fever (FMF).

Orphanet Journal Of Rare Diseases
El Hasbani, Georges G; Jawad, Ali A; Uthman, Imad I
Publication Date: 2019-10-15

Variant appearance in text: FMF: R761H
PubMed Link: 31615541
Variant Present in the following documents:
  • Main text
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Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Journal Of Leukocyte Biology
Tartey, Sarang S; Kanneganti, Thirumala-Devi TD
Publication Date: 2020-03

Variant appearance in text: FMF: R761H
PubMed Link: 31608507
Variant Present in the following documents:
  • Main text
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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MEFV: 2282G>A; rs104895097
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
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MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea.

Genetics Research International
Salehzadeh, Farhad F; Sharghi, Afshan A; Motayayagheni, Atena A; Hosseini Asl, Saied S; Mottaghi, Mahsa M; Sarkhanloo, Sepehr S
Publication Date: 2019

Variant appearance in text: FMF: R761H
PubMed Link: 31531243
Variant Present in the following documents:
  • GRI2019-6418759.pdf
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