Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene.
Life (Basel, Switzerland)
Sahin, Sezgin S; Romano, Micol M; Guzel, Ferhat F; Piskin, David D; Poddighe, Dimitri D; Sezer, Siren S; Kasapcopur, Ozgur O; Appleton, C Thomas CT; Yilmaz, Ilker I; Demirkaya, Erkan E
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
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C
Publication Date: 2021-01
Variant appearance in text: MEFV: 1437C>G; Phe479Leu
Comparison of Different Pharmaceutical Preparations of Colchicine in Children with Familial Mediterranean Fever: Is Colchicine Opocalcium a Good Alternative?
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
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019
Variant appearance in text: MEFV: 1437C>G; Phe479Leu
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: 1437C>G; rs104895083
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: MEFV: F479L; rs104895083
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).