Publications:

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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: rs104895076

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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: E148V

PubMed Link: 33738724

Variant Present in the following documents:

• Main text
• 11033_2020_Article_6040.pdf

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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: E148V

PubMed Link: 32824452

Variant Present in the following documents:

• Main text
• medsci-08-00035.pdf

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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: E148V; rs104895076

PubMed Link: 32398039

Variant Present in the following documents:

• 12969_2020_427_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Frontiers In Immunology

Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,

Publication Date: 2020

Variant appearance in text: MEFV: 443A>T

PubMed Link: 32373116

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: 443A>T; rs104895076

PubMed Link: 32082075

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E148V

PubMed Link: 31941537

Variant Present in the following documents:

• Main text
• 13052_2019_Article_766.pdf

View BVdb publication page

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Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.

Rheumatology (Oxford, England)

Accetturo, Matteo M; D'Uggento, Angela Maria AM; Portincasa, Piero P; Stella, Alessandro A

Publication Date: 2020-04-01

Variant appearance in text: FMF: E148V

PubMed Link: 31411330

Variant Present in the following documents:

• Main text
• kez332.pdf

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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.

International Journal Of Inflammation

Mansour, Amal R AR; El-Shayeb, Ayman A; El Habachi, Nihal N; Khodair, Mohamad A MA; Elwazzan, Doaa D; Abdeen, Nermeen N; Said, Marwa M; Ebaid, Riham R; ElShahawy, Noha N; Seif, Amr A; Zaki, Nadia N

Publication Date: 2019

Variant appearance in text: MEFV: E148V

PubMed Link: 30915208

Variant Present in the following documents:

• Main text
• IJI2019-2578760.pdf

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The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.

Archives Of Rheumatology

Baran, Maşallah M; Çağan Appak, Yeliz Y; Garipcin, Pınar P; Demirçelik, Yavuz Y; Pala, Emel Ebru EE; Özyilmaz, Berk B; Karakoyun, Miray M; Ergün, Orkan O

Publication Date: 2018-12

Variant appearance in text: MEFV: E148V

PubMed Link: 30874249

Variant Present in the following documents:

• Main text

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: E148V

PubMed Link: 29735907

Variant Present in the following documents:

• Main text
• jcm-07-00105.pdf

View BVdb publication page

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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Orphanet Journal Of Rare Diseases

Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,

Publication Date: 2017-10-18

Variant appearance in text: FMF: E148V

PubMed Link: 29047407

Variant Present in the following documents:

• Main text
• 13023_2017_Article_720.pdf

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Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia.

Clinical And Experimental Immunology

Isaksson, H S HS; Farkas, S A SA; Müller, P P; Gustafsson, D D; Nilsson, T K TK

Publication Date: 2018-02

Variant appearance in text: MEFV: E148V

PubMed Link: 28984903

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MEFV: 443A>T; Glu148Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: MEFV: Glu148Val

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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Familial Mediterranean fever: An updated review.

European Journal Of Rheumatology

Sarı, İsmail İ; Birlik, Merih M; Kasifoğlu, Timuçin T

Publication Date: 2014-03

Variant appearance in text: MEFV: E148V

PubMed Link: 27708867

Variant Present in the following documents:

• Main text

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A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Kawashiri, Masa-Aki MA; Okada, Hirofumi H; Endo, Saori S; Toyoshima, Yuka Y; Konno, Tetsuo T; Nohara, Atsushi A; Inazu, Akihiro A; Takao, Akira A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K

Publication Date: 2016-07-01

Variant appearance in text: MEFV: Glu148Val

PubMed Link: 27170062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: FMF: Glu148Val; rs104895076

PubMed Link: 26247045

Variant Present in the following documents:

• Main text
• mgg30003-0272.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MEFV: E148V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs104895076

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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