Publications

Aldea A, Campistol JM, Arostegui JI, Rius J, et al. (2004). A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Am. J. Med. Genet. A 124A: 67-73. http://dx.doi.org/10.1002/ajmg.a.20296 PMid:14679589   Brik R, Shinawi M, Kepten I, Berant M, et al. (1999). Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 103: e70. http://dx.doi.org/10.1542/peds.103.5.e70 PMid:10224214   Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, et al. (1999). MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am. J. Hum. Genet. 65: 88-97. http://dx.doi.org/10.1086/302459 PMid:10364520 PMCid:1378078   Centola M, Wood G, Frucht DM, Galon J, et al. (2000). The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95: 3223-3231. PMid:10807793   Consortium TFF (1997). A candidate gene for familial Mediterranean fever. Nat. Genet. 17: 25-31. http://dx.doi.org/10.1038/ng0997-25 PMid:9288094   Consortium TIF (1997). Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 90: 797-807. http://dx.doi.org/10.1016/S0092-8674(00)80539-5   Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, et al. (1998). Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur. J. Hum. Genet. 6: 95-97. http://dx.doi.org/10.1038/sj.ejhg.5200170 PMid:9781020   Diaz A, Hu C, Kastner DL, Schaner P, et al. (2004). Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum. 50: 3679-3689. http://dx.doi.org/10.1002/art.20600 PMid:15529356   Düşünsel R, Dursun I, Gunduz Z, Poyrazoglu MH, et al. (2008). Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr. Int. 50: 208-212. http://dx.doi.org/10.1111/j.1442-200X.2008.02554.x PMid:18353061   Esmaeili M, Bonyadi M, Rafeey M, Sakha K, et al. (2008). Common MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever. Semin. Arthritis Rheum. 37: 334-338. http://dx.doi.org/10.1016/j.semarthrit.2007.08.005 PMid:18006045   Güneşaçar R, Kasap H, Erken E and Ozer HT (2005). Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Cukurova region (Turkey). Genet. Test 9: 220-225. http://dx.doi.org/10.1089/gte.2005.9.220 PMid:16225401   Ince E, Cakar N, Tekin M, Kendirli T, et al. (2002). Arthritis in children with familial Mediterranean fever. Rheumatol. Int. 21: 213-217. http://dx.doi.org/10.1007/s00296-001-0168-5 PMid:12036206   Sarrauste De Menthière C, Terrière S, Pugnère D, Ruiz M, et al. (2003). INFEVERS: The Registry for FMF and Hereditary İnflammatory Disorders Mutations. Nucleic Acids Res. 31: 282-285. http://dx.doi.org/10.1093/nar/gkg031 PMid:12520003 PMCid:165478   Jarjour RA (2010). Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. Mol. Biol. Rep. 37: 1-5. http://dx.doi.org/10.1007/s11033-009-9475-9 PMid:19253030   Jarjour RA and Dodaki R (2011). Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. Mol. Biol. Rep. 38: 2033-2036. http://dx.doi.org/10.1007/s11033-010-0326-5 PMid:20845072   Kastner DLAI (2005). Lippincott Williams and Wilkins. Vol. 15. Intermittent and Periodic Arthritis Syndromes, Philadelphia.   Kone PI, Dubuc M, Sportouch J, Minodier P, et al. (2000). Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology 39: 1275-1279. http://dx.doi.org/10.1093/rheumatology/39.11.1275   Marek-Yagel D, Berkun Y, Padeh S, Abu A, et al. (2009). Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 60: 1862-1866. http://dx.doi.org/10.1002/art.24570 PMid:19479871   Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, et al. (2006). Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur. J. Med. Genet. 49: 481-486. http://dx.doi.org/10.1016/j.ejmg.2006.03.002 PMid:16627024   Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, et al. (2000). Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. Hum. Mutat. 15: 384. http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U   Medlej-Hashim M, Serre JL, Corbani S, Saab O, et al. (2005). Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur. J. Med. Genet. 48: 412-420. http://dx.doi.org/10.1016/j.ejmg.2005.05.010 PMid:16378925   Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, et al. (2010). 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. BMC Med. Genet. 11: 87. http://dx.doi.org/10.1186/1471-2350-11-87 PMid:20534143 PMCid:2894788   Milhavet F, Cuisset L and Hoffman HM (2008). The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum. Mutat. 29: 803-808. http://dx.doi.org/10.1002/humu.20720 PMid:18409191   Olgun A, Akman S, Kurt I, Tuzun A, et al. (2005). MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis. Rheumatol. Int. 25: 255-259. http://dx.doi.org/10.1007/s00296-003-0433-x PMid:14727057   Olive DM and Bean P (1999). Principles and applications of methods for DNA-based typing of microbial organisms. J. Clin. Microbiol. 37: 1661-1669. PMid:10325304 PMCid:84917   Öztürk A, Özçakar B, Ekim M and Akar N (2008). Is MEFV gene Arg202Gln (605 G>A) a disease-causing mutation? Turk. J. Med. Sci. 38: 205-208.   Paşa S, Altintas A, Devecioglu B, Cil T, et al. (2008). Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid 15: 49-53. http://dx.doi.org/10.1080/13506120701815456 PMid:18266121   Pras M and Kastner DL (1997). Familial Mediterranean Fever. In: Rheumatology. 2nd edn. (Klippel JH and Dieppe PA, eds.). Mosby, London, 1-23.   Saatçi U, Ozen S, Ozdemir S, Bakkaloglu A, et al. (1997). Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur. J. Pediatr. 156: 619-623. http://dx.doi.org/10.1007/s004310050677 PMid:9266193   Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30: e57. http://dx.doi.org/10.1093/nar/gnf056 PMid:12060695 PMCid:117299   Shinar Y, Livneh A, Langevitz P, Zaks N, et al. (2000). Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J. Rheumatol. 27: 1703-1707. PMid:10914855   Touitou I (2001). The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur. J. Hum. Genet. 9: 473-483. http://dx.doi.org/10.1038/sj.ejhg.5200658 PMid:11464238   van Gijn ME, Soler S, de la Chapelle C, Mulder M, et al. (2008). Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. Eur. J. Hum. Genet. 16: 1404-1406. http://dx.doi.org/10.1038/ejhg.2008.135 PMid:18648395   Yalçınkaya F, Cakar N, Misirlioglu M, Tumer N, et al. (2000). Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology 39: 67-72. http://dx.doi.org/10.1093/rheumatology/39.1.67 PMid:10662876

Ambasudhan R, Singh K, Agarwal JK, Singh SK, et al. (2003). Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J. Biosci. 28: 605-612. http://dx.doi.org/10.1007/BF02703336 PMid:14517364   Barch MJ, Knutsen T and Spurbeck JL (1997). The AGT Cytogenetics Laboratory Manual. 3rd edn. Lippincott-Raven, Philadelphia.   Choe JH, Kim JW, Lee JS and Seo JT (2007). Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J. Androl. 9: 815-820. http://dx.doi.org/10.1111/j.1745-7262.2007.00315.x PMid:17968468   Egozcue J, Blanco J, Anton E, Egozcue S, et al. (2003). Genetic analysis of sperm and implications of severe male infertility - a review. Placenta 24 (Suppl B): S62-S65. http://dx.doi.org/10.1016/S0143-4004(03)00186-3   Griffin DK and Finch KA (2005). The genetic and cytogenetic basis of male infertility. Hum. Fertil. 8: 19-26. http://dx.doi.org/10.1080/14647270400016407 PMid:15823847   Hadjkacem-Loukil L, Ghorbel M, Bahloul A, Ayadi H, et al. (2009). Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod. Biomed. Online 19: 547-551. http://dx.doi.org/10.1016/j.rbmo.2009.05.006 PMid:19909597   Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, et al. (2005). Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum. Reprod. 20: 191-197. http://dx.doi.org/10.1093/humrep/deh558 PMid:15498781   Kamp C, Huellen K, Fernandes S, Sousa M, et al. (2001). High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol. Hum. Reprod. 7: 987-994. http://dx.doi.org/10.1093/molehr/7.10.987 PMid:11574668   Krausz C, Quintana-Murci L and McElreavey K (2000). Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod. 15: 1431-1434. http://dx.doi.org/10.1093/humrep/15.7.1431 PMid:10875846   Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, et al. (2001). The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29: 279-286. http://dx.doi.org/10.1038/ng757 PMid:11687796   McElreavey K, Krausz C and Bishop CE (2000). The human Y chromosome and male infertility. Results Probl. Cell Differ. 28: 211-232. http://dx.doi.org/10.1007/978-3-540-48461-5_9 PMid:10626300   Mitra A, Dada R, Kumar R, Gupta NP, et al. (2006). Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Asian J. Androl. 8: 81-88. http://dx.doi.org/10.1111/j.1745-7262.2006.00083.x PMid:16372123   Mittal RD, Singh G, Srivastava A, Pradhan M, et al. (2004). Y chromosome micro-deletions in idiopathic infertility from Northern India. Ann. Genet. 47: 331-337. http://dx.doi.org/10.1016/j.anngen.2004.05.003 PMid:15581830   Paduch DA, Bolyakov A, Cohen P and Travis A (2009). Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin. Reprod. Med. 27: 137-148. http://dx.doi.org/10.1055/s-0029-1202302 PMid:19247915   Shaffer LG and Tommerup N (2005). An International System for Human Cytogenetic Nomenclature. 1st edn. S. Karger, Basel.   Tateno T, Sasagawa I, Ichiyanagi O, Ashida J, et al. (1999). Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis. Fertil. Steril. 71: 746-749. http://dx.doi.org/10.1016/S0015-0282(98)00546-9   Tomasi PA, Oates R, Brown L, Delitala G, et al. (2003). The pituitary-testicular axis in Klinefelter's syndrome and in oligo-azoospermic patients with and without deletions of the Y chromosome long arm. Clin. Endocrinol. 59: 214-222. http://dx.doi.org/10.1046/j.1365-2265.2003.01828.x   Tuarnaye H (2002). Gamete Source and Manipulation. In: Current Practices and Controversies in Assisted Reproduction: Report of a WHO Meeting (Vayana E, Rowe PS and Griffin PD, eds.). WHO (World Health Organization), Geneva, 83-101.