Guidelines for the genetic diagnosis of hereditary recurrent fevers

Annals of the Rheumatic Diseases

Volumn 71, Issue 10, 2012, Pages 1599-1605

  Shinar, Y ^a   Obici, L ^b   Aksentijevich, I ^c   Bennetts, B ^d   Austrup, F ^e   Ceccherini, I ^f   Costa, J M ^g   De Leener, A ^h   Gattorno, M ^f   Kania, U ⁱ   Kone Paut, I ^j   Lezer, S ^k   Livneh, A ^a,l   Moix, I ^m   Nishikomori, R ⁿ   Ozen, S ^o   Phylactou, L ^p   Risom, L ^q   Rowczenio, D ^r   Sarkisian, T ^s   Van Gijn, M E ^t   Witsch Baumgartner, M ^u   Morris, M ^v   Hoffman, H M ^w   Touitou, Isabelle ^x   more..

^a HELLER INSTITUTE OF MEDICAL RESEARCH   (Israel)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e LADR MVZ Recklinghausen ^*  (Germany)

^f G GASLINI INSTITUTE   (Italy)

^g LABORATOIRE CERBA   (France)

^h ERASME HOSPITAL   (Belgium)

ⁱ JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^j BICÊTRE HOSPITAL   (France)

^k Pronto Diagnostics   (Israel)

^l TEL AVIV UNIVERSITY   (Israel)

^m UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

ⁿ KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^o HACETTEPE UNIVERSITY   (Turkey)

^p CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^q Cyprus Institute of Neurology and Genetics ^*  (Denmark)

^r ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^s Center of Medical Genetics and Primary Health Care   (Armenia)

^t UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^u INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^v GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^w UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^x INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; CLINICAL DECISION MAKING; CLINICAL PRACTICE; DISEASE SEVERITY; DNA SEQUENCE; FAMILY ASSESSMENT; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY RECURRENT FEVER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOREGULATION; INNATE IMMUNITY; INTERNATIONAL COOPERATION; MEFV GENE; MUTATIONAL ANALYSIS; MVK GENE; NLRP3 GENE; NUCLEOTIDE SEQUENCE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT FEVER; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TNFRS1A GENE;

GENETIC TESTING; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS;

EID: 84866132717     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-201271     Document Type: Review

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