PMC Links for Books (Select 1489292) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 49343852.

Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents

Gilad Twig, Avi Livneh, Asaf Vivante, Arnon Afek, Ari Shamiss, Estela Derazne, Dorit Tzur, Ilan Ben-Zvi, Amir Tirosh, Micha Barchana, Tamy Shohat, Eliezer Golan, Howard Amital

Ann Rheum Dis. Author manuscript; available in PMC 2016 Jul 6.

Published in final edited form as: Ann Rheum Dis. 2014 Apr; 73(4): 704–709. Published online 2013 Mar 16. doi: 10.1136/annrheumdis-2012-202932

PMCID:: PMC4934385

Abstract Article PDF–1.2M

Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44089394.

Canakinumab as rescue therapy in familial Mediterranean fever refractory to conventional treatment

Mirella Alpa, Dario Roccatello

Drug Des Devel Ther. 2015; 9: 1983–1987. Published online 2015 Apr 17. doi: 10.2147/DDDT.S69117

PMCID:: PMC4408939

Abstract Article PDF–1.4M

Select item 41314225.

The Effect of Rilonacept versus Placebo on Health-Related Quality of Life in Patients with Poorly Controlled Familial Mediterranean Fever

Philip J. Hashkes, Steven J. Spalding, Rula Hajj-Ali, Edward H. Giannini, Anne Johnson, Karyl S. Barron, Michael H. Weisman, Noune Pashinian, Andreas O. Reiff, Jonathan Samuels, Dowain Wright, Daniel J. Lovell, Bin Huang

Biomed Res Int. 2014; 2014: 854842. Published online 2014 May 15. doi: 10.1155/2014/854842

PMCID:: PMC4131422

Abstract Article PDF–595K

Select item 38543086.

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

C. Kosan, A. Cayir, M.I. Turan

Braz J Med Biol Res. 2013 Oct; 46(10): 904–908. Published online 2013 Sep 18. doi: 10.1590/1414-431X20133178

PMCID:: PMC3854308

Abstract Article PDF–267K

Select item 35702407.

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

JG Ryan, SL Masters, MG Booty, N Habal, JD Alexander, BK Barham, EF Remmers, KS Barron, DL Kastner, I Aksentijevich

Ann Rheum Dis. Author manuscript; available in PMC 2013 Feb 12.

Published in final edited form as: Ann Rheum Dis. 2010 Jul; 69(7): 1383–1388. Published online 2009 Nov 23. doi: 10.1136/ard.2009.113415

PMCID:: PMC3570240

Abstract Article PDF–877K

Select item 33647988.

Diffuse pulmonary amyloidosis due to Familial Mediterranean Fever, a rare presentation

Deniz Koksal, Neslihan Mutluay, Hulya Bayiz, Bahadir Berktas, Mine Berkoglu, Funda Demirag

Libyan J Med. 2012; 7: 10.3402/ljm.v7i0.18482. Published online 2012 May 29. doi: 10.3402/ljm.v7i0.18482

PMCID:: PMC3364798

Article PDF–819K

Select item 31296089.

Gain-of-function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

Jae Jin Chae, Young-Hun Cho, Geun-Shik Lee, Jun Cheng, P. Paul Liu, Lionel Feigenbaum, Stephen I. Katz, Daniel L. Kastner

Immunity. Author manuscript; available in PMC 2012 May 27.

Published in final edited form as: Immunity. 2011 May 27; 34(5): 755–768. Published online 2011 May 19. doi: 10.1016/j.immuni.2011.02.020

PMCID:: PMC3129608

Abstract Article PDF–3.0M

Select item 275353810.

Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?

Matthew G. Booty, Jae Jin Chae, Seth L. Masters, Elaine F. Remmers, Beverly Barham, Julie M. Lee, Karyl S. Barron, Steve Holland, Daniel L. Kastner, Ivona Aksentijevich

Arthritis Rheum. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: Arthritis Rheum. 2009 Jun; 60(6): 1851–1861. doi: 10.1002/art.24569

PMCID:: PMC2753538

Abstract Article PDF–574K

Select item 229248011.

The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever

Lorenzo Calligaris, Federico Marchetti, Alberto Tommasini, Alessandro Ventura

Eur J Pediatr. 2008 Jun; 167(6): 695–696. Published online 2007 Jun 23. doi: 10.1007/s00431-007-0547-3

PMCID:: PMC2292480

Abstract Article PDF–57K

Select item 211163012.

Effective treatment of a colchicine‐resistant familial Mediterranean fever patient with anakinra

Loes M Kuijk, Anita M A P Govers, Willem J D Hofhuis, Joost Frenkel

Ann Rheum Dis. 2007 Nov; 66(11): 1545–1546. doi: 10.1136/ard.2007.071498

PMCID:: PMC2111630

Article PDF–181K

Select item 179829913.

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

D O Tchernitchko, M Gérard‐Blanluet, M Legendre, C Cazeneuve, G Grateau, S Amselem

Ann Rheum Dis. 2006 Sep; 65(9): 1154–1157. Published online 2006 Feb 13. doi: 10.1136/ard.2005.048124

PMCID:: PMC1798299

Abstract Article PDF–155K

Select item 175557614.

Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene

E Rabinovich, A Livneh, P Langevitz, N Brezniak, E Shinar, M Pras, Y Shinar

Ann Rheum Dis. 2005 Jul; 64(7): 1009–1014. doi: 10.1136/ard.2004.029447

PMCID:: PMC1755576

Summary PDF–92K

Select item 175547115.

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever

R Topaloglu, F Ozaltin, E Yilmaz, S Ozen, B Balci, N Besbas, A Bakkaloglu

Ann Rheum Dis. 2005 May; 64(5): 750–752. Published online 2004 Sep 30. doi: 10.1136/ard.2004.026963

PMCID:: PMC1755471

Summary PDF–58K

Select item 175488416.

Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever

C Sackesen, A Bakkaloglu, B Sekerel, F Ozaltin, N Besbas, E Yilmaz, G Adalioglu, S Ozen

Ann Rheum Dis. 2004 Feb; 63(2): 187–190. doi: 10.1136/ard.2003.007013

PMCID:: PMC1754884

Summary PDF–219K

Select item 175346317.

Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene

E Ben-Chetrit, R Backenroth

Ann Rheum Dis. 2001 Feb; 60(2): 146–149. doi: 10.1136/ard.60.2.146

PMCID:: PMC1753463

Summary PDF–111K

Select item 137781918.

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

I Aksentijevich, Y Torosyan, J Samuels, M Centola, E Pras, J J Chae, C Oddoux, G Wood, M P Azzaro, G Palumbo, R Giustolisi, M Pras, H Ostrer, D L Kastner

Am J Hum Genet. 1999 Apr; 64(4): 949–962. doi: 10.1086/302327

PMCID:: PMC1377819

Summary PDF–1013K

Select item 35691519.

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet, André Mégarbané

BMC Med Genet. 2004; 5: 4. Published online 2004 Feb 10. doi: 10.1186/1471-2350-5-4

PMCID:: PMC356915

Abstract Article PDF–249K

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