Publications:

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Familial Mediterranean fever with colonic lesions: A case report.

Den Open

Ariga, Hiroyuki H; Kunisaki, Reiko R; Ojima, Takeshi T; Suzuki, Satoshi S; Okada, Kenta K; Kashimura, Junya J

Publication Date: 2024-04

Variant appearance in text: MEFV: L110P

PubMed Link: 37206860

Variant Present in the following documents:

• Main text
• DEO2-4-e246.pdf

View BVdb publication page

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Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet's Disease and Refractoriness to Treatment.

Journal Of Clinical Medicine

Furuta, Yoki Y; Gushima, Ryosuke R; Naoe, Hideaki H; Honda, Munenori M; Tsuruta, Yuiko Y; Nagaoka, Katsuya K; Watanabe, Takehisa T; Tateyama, Masakuni M; Fujimoto, Nahoko N; Hirata, Shinya S; Miyagawa, Eiko E; Sakata, Komei K; Mizuhashi, Yumiko Y; Iwakura, Mikako M; Murai, Masayuki M; Matsuoka, Masao M; Komohara, Yoshihiro Y; Tanaka, Yasuhito Y

Publication Date: 2023-04-26

Variant appearance in text: FMF: L110P; rs11466018

PubMed Link: 37176572

Variant Present in the following documents:

• Main text
• jcm-12-03131.pdf

View BVdb publication page

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Autoinflammatory disease: clinical perspectives and therapeutic strategies.

Inflammation And Regeneration

Kawakami, Atsushi A; Yushiro, Endo E; Tomohiro, Koga K; Koh-Ichiro, Yoshiura Y; Kiyoshi, Migita M

Publication Date: 2022-12-02

Variant appearance in text: rs11466018

PubMed Link: 36457027

Variant Present in the following documents:

• Main text
• 41232_2022_Article_217.pdf

View BVdb publication page

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Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.

Internal Medicine (Tokyo, Japan)

Nakayama, Tomohiro T; Kozu, Yutaka Y

Publication Date: 2022-11-30

Variant appearance in text: FMF: Leu110Pro

PubMed Link: 36450463

Variant Present in the following documents:

• 1349-7235-62-0643.pdf

View BVdb publication page

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Transient and Recurrent Pulmonary Infiltrations Associated with Familial Mediterranean Fever.

Internal Medicine (Tokyo, Japan)

Nishiyama, Miho M; Takahashi, Kiyohide K; Morizumi, Shun S; Takahashi, Yoshinobu Y; Iwamura, Shinichi S; Sumitomo, Kenya K; Nakano, Seiichi S; Shinohara, Tsutomu T

Publication Date: 2022

Variant appearance in text: MEFV: L110P

PubMed Link: 36385047

Variant Present in the following documents:

• 1349-7235-61-3415.pdf

View BVdb publication page

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MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac.

Journal Of Otology

Zou, Jing J; Zhao, Zikai Z; Zhang, Guoping G; Zhang, Qing Q; Pyykkö, Ilmari I

Publication Date: 2022-07

Variant appearance in text: MEFV: 329T>C

PubMed Link: 35847575

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: L110P

PubMed Link: 35480407

Variant Present in the following documents:

• PAMJ-41-121.pdf

View BVdb publication page

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: MEFV: 329T>C; Leu110Pro

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MEFV: L110P; rs11466018

PubMed Link: 34905135

Variant Present in the following documents:

• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MEFV: L110P; rs11466018

PubMed Link: 34905135

Variant Present in the following documents:

• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease.

Clinical And Experimental Immunology

Endo, Yushiro Y; Koga, Tomohiro T; Ubara, Yoshihumi Y; Sumiyoshi, Remi R; Furukawa, Kaori K; Kawakami, Atsushi A

Publication Date: 2021-10

Variant appearance in text: MEFV: L110P

PubMed Link: 34096620

Variant Present in the following documents:

• Main text
• CEI-206-91.pdf

View BVdb publication page

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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: L110P

PubMed Link: 33738724

Variant Present in the following documents:

• Main text
• 11033_2020_Article_6040.pdf

View BVdb publication page

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Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.

Arthritis Research & Therapy

Kadowaki, Saori S; Hashimoto, Kunio K; Nishimura, Toyoki T; Kashimada, Kenichi K; Kadowaki, Tomonori T; Kawamoto, Norio N; Imai, Kohsuke K; Okada, Satoshi S; Kanegane, Hirokazu H; Ohnishi, Hidenori H

Publication Date: 2021-02-06

Variant appearance in text: FMF: 329T>C; rs11466018

PubMed Link: 33549127

Variant Present in the following documents:

• Main text
• 13075_2021_Article_2434.pdf

View BVdb publication page

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Familial Mediterranean fever phenotype progression into anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis:a case report.

Fukushima Journal Of Medical Science

Yago, Toru T; Asano, Tomoyuki T; Fujita, Yuya Y; Migita, Kiyoshi K

Publication Date: 2020-12-10

Variant appearance in text: MEFV: L110P

PubMed Link: 33162488

Variant Present in the following documents:

• Main text
• 2185-4610-66-160.pdf

View BVdb publication page

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Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Frontiers In Immunology

Wang, Wei W; Yu, Zhongxun Z; Gou, Lijuan L; Zhong, Linqing L; Li, Ji J; Ma, Mingsheng M; Wang, Changyan C; Zhou, Yu Y; Ru, Ying Y; Sun, Zhixing Z; Wei, Qijiao Q; Dong, Yanqing Y; Song, Hongmei H

Publication Date: 2020

Variant appearance in text: MEFV: 329T>C

PubMed Link: 33042144

Variant Present in the following documents:

• Main text
• fimmu-11-565099.pdf

View BVdb publication page

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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: L110P

PubMed Link: 32824452

Variant Present in the following documents:

• Main text
• medsci-08-00035.pdf

View BVdb publication page

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Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes.

Internal Medicine (Tokyo, Japan)

Fujimoto, Kyoko K; Hidaka, Yukiko Y; Koga, Takuma T; Kaieda, Shinjiro S; Yamasaki, Satoshi S; Nakashima, Munetoshi M; Hoshino, Tomoaki T; Ida, Hiroaki H

Publication Date: 2020

Variant appearance in text: MEFV: L110P

PubMed Link: 32475906

Variant Present in the following documents:

• Main text
• 1349-7235-59-1373.pdf

View BVdb publication page

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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: L110P

PubMed Link: 32398039

Variant Present in the following documents:

• Main text
• 12969_2020_427_MOESM3_ESM.xlsx, sheet 1
• 12969_2020_427_MOESM3_ESM.xlsx, sheet 2
• 12969_2020_Article_427.pdf

View BVdb publication page

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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: 329T>C; rs11466018

PubMed Link: 32082075

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ileocolonic Lymphonodular Hyperplasia in Children Related to Etiologies Ranging from Food Hypersensitivity to Familial Mediterranean Fever.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre

Cakir, Murat M; Sag, Elif E; Saygin, Ismail I; Orhan, Fazil F

Publication Date: 2020

Variant appearance in text: MEFV: L110P

PubMed Link: 32000163

Variant Present in the following documents:

• Main text

View BVdb publication page

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First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis.

Rheumatology (Oxford, England)

Kiyota, Masatomo M; Oya, Masafumi M; Ayano, Masahiro M; Niiro, Hiroaki H; Iwasaki, Takeshi T; Fujiwara, Minako M; Oda, Yoshinao Y; Fujimoto, Kyoko K; Ida, Hiroaki H

Publication Date: 2020-09-01

Variant appearance in text: FMF: L110P

PubMed Link: 31998953

Variant Present in the following documents:

• Main text
• keaa005.pdf

View BVdb publication page

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Familial Mediterranean Fever in Chinese Children: A Case Series.

Frontiers In Pediatrics

Li, Ji J; Wang, Wei W; Zhong, Linqing L; Pan, Junyan J; Yu, Zhongxun Z; Jian, Shan S; Wang, Changyan C; Ma, Mingsheng M; Tang, Xiaoyan X; Wang, Lin L; Quan, Meiying M; Zhang, Yu Y; Xiao, Juan J; Song, Hongmei H

Publication Date: 2019

Variant appearance in text: MEFV: 329T>C

PubMed Link: 31803701

Variant Present in the following documents:

• Main text

View BVdb publication page

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MEFV gene mutations in neuro-Behçet's disease and neuro-Sweet disease.

Annals Of Clinical And Translational Neurology

Ishikawa, Hidehiro H; Shindo, Akihiro A; Ii, Yuichiro Y; Kishida, Dai D; Niwa, Atsushi A; Nishiguchi, Yamato Y; Matsuura, Keita K; Kato, Natsuko N; Mizutani, Akane A; Tachibana, Kei K; Hirata, Yoshinori Y; Matsuyama, Hirofumi H; Ogawa-Ito, Ai A; Taniguchi, Akira A; Tomimoto, Hidekazu H

Publication Date: 2019-12

Variant appearance in text: FMF: L110P

PubMed Link: 31682063

Variant Present in the following documents:

• Main text
• ACN3-6-2595.pdf

View BVdb publication page

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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: 329T>C

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan.

Internal Medicine (Tokyo, Japan)

Hosoi, Takahiro T; Ishii, Kazuhiro K; Tozaka, Naoki N; Kishida, Dai D; Sekijima, Yoshiki Y; Tamaoka, Akira A

Publication Date: 2020-01-01

Variant appearance in text: MEFV: L110P

PubMed Link: 31511485

Variant Present in the following documents:

• Main text
• 1349-7235-59-0125.pdf

View BVdb publication page

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Atypical Familial Mediterranean Fever Presenting with Recurrent Migratory Polyarthritis.

Internal Medicine (Tokyo, Japan)

Iwata, Kentaro K; Toma, Tomoko T; Yachie, Akihiro A

Publication Date: 2019-11-01

Variant appearance in text: MEFV: L110P

PubMed Link: 31292393

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MEFV: L110P

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 48

View BVdb publication page

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Periodic fever syndromes: beyond the single gene paradigm.

Pediatric Rheumatology Online Journal

Westwell-Roper, Clara C; Niemietz, Iwona I; Tucker, Lori B LB; Brown, Kelly L KL

Publication Date: 2019-05-14

Variant appearance in text: FMF: L110P

PubMed Link: 31088470

Variant Present in the following documents:

• Main text
• 12969_2019_Article_324.pdf

View BVdb publication page

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Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.

Scientific Reports

Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Olivas-Martínez, Israel I; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Juliá, María Rosa MR; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez de la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF

Publication Date: 2019-02-26

Variant appearance in text: MEFV: Leu110Pro

PubMed Link: 30808881

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39113.pdf

View BVdb publication page

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Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease

Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J

Publication Date: 2019-02-04

Variant appearance in text: MEFV: 329T>C; L110P; rs11466018

PubMed Link: 30718471

Variant Present in the following documents:

• 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Antineutrophil cytoplasmic antibody-positive familial Mediterranean fever and hyperthyroidism: A case report.

Medicine

Segoe, Sorato S; Sada, Ken-Ei KE; Hayashi, Keigo K; Yamamura, Yuriko Y; Morishita, Michiko M; Watanabe, Haruki H; Matsumoto, Yoshinori Y; Wada, Jun J

Publication Date: 2018-12

Variant appearance in text: MEFV: L110P

PubMed Link: 30572542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.

European Journal Of Rheumatology

Hoang, Tiffany K TK; Albert, Daniel A DA

Publication Date: 2019-01

Variant appearance in text: FMF: L110P

PubMed Link: 30407166

Variant Present in the following documents:

• Main text
• ejr-6-1-12.pdf

View BVdb publication page

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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

International Journal Of Inflammation

Shahbaznejad, Leila L; Raeeskarami, Sayed-Reza SR; Assari, Raheleh R; Shakoori, Abbas A; Azhideh, Hamidreza H; Aghighi, Yahya Y; Tahghighi, Fatemeh F; Ziaee, Vahid V

Publication Date: 2018

Variant appearance in text: MEFV: L110P

PubMed Link: 30402217

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.

Plos One

Zhang, Zhifang Z; Feng, Jinong J; Mao, Allen A; Le, Keith K; La Placa, Deirdre D; Wu, Xiwei X; Longmate, Jeffrey J; Marek, Claudia C; St Amand, R Paul RP; Neuhausen, Susan L SL; Shively, John E JE

Publication Date: 2018

Variant appearance in text: MEFV: L110P

PubMed Link: 29927949

Variant Present in the following documents:

• Main text
• pone.0198625.pdf

View BVdb publication page

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Increased Frequency of MEFV Genes in Patients with Epigastric Pain Syndrome.

Balkan Journal Of Medical Genetics : Bjmg

Bd, Coskun C; A, Kiraz K; E, Sevinc S; O, Baspinar B; E, Cakmak C

Publication Date: 2017-12

Variant appearance in text: FMF: L110P

PubMed Link: 29876233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases.

Internal Medicine (Tokyo, Japan)

Yamashita, Kouhei K; Mizugishi, Kiyomi K; Takaori-Kondo, Akifumi A

Publication Date: 2018-10-01

Variant appearance in text: FMF: L110P

PubMed Link: 29780113

Variant Present in the following documents:

• Main text
• 1349-7235-57-2901.pdf

View BVdb publication page

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The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Journal Of Clinical Medicine

Gumus, Evren E

Publication Date: 2018-05-07

Variant appearance in text: MEFV: L110P

PubMed Link: 29735907

Variant Present in the following documents:

• Main text

View BVdb publication page

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A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.

Medicine

Ou-Yang, Liang-Jun LJ; Tang, Kuo-Tung KT

Publication Date: 2018-04

Variant appearance in text: MEFV: 329T>C

PubMed Link: 29642170

Variant Present in the following documents:

• Main text
• medi-97-e0333.pdf

View BVdb publication page

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Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.

Internal Medicine (Tokyo, Japan)

Kimura, Kazuki K; Mizooka, Masafumi M; Migita, Kiyoshi K; Ishida, Ryoko R; Matsumoto, Masatoshi M; Yamasaki, Satoshi S; Kishikawa, Nobusuke N; Kawahara, Akihiro A; Kikuchi, Yuka Y; Otani, Yuichiro Y; Kobayashi, Tomoki T; Miyamori, Daisuke D; Ikuta, Takuya T; Nakamura, Hiroshi H; Yokobayashi, Kenichi K; Iwamoto, Shuichi S; Kanno, Keishi K; Ohira, Hiromasa H; Tazuma, Susumu S

Publication Date: 2018-08-15

Variant appearance in text: MEFV: L110P

PubMed Link: 29526930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Is palindromic rheumatism amongst children a benign disease?

Pediatric Rheumatology Online Journal

Butbul-Aviel, Yonatan Y; Uziel, Yosef Y; Hezkelo, Nofar N; Brik, Riva R; Amarilyo, Gil G

Publication Date: 2018-02-13

Variant appearance in text: MEFV: L110P

PubMed Link: 29439723

Variant Present in the following documents:

• Main text
• 12969_2018_Article_227.pdf

View BVdb publication page

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

Molecular Genetics & Genomic Medicine

Moradian, Mike M MM; Babikyan, Davit D; Banoian, Dion D; Hayrapetyan, Hasmik H; Manvelyan, Hakob H; Avanesian, Nareh N; Sarkisian, Tamara T

Publication Date: 2017-11

Variant appearance in text: FMF: 329T>C; rs11466018

PubMed Link: 29178647

Variant Present in the following documents:

• MGG3-5-742.pdf

View BVdb publication page

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