Portal de Periódicos da CAPES

Giorgio Filippi, April 4, 1935-January 19, 1996

1997; Wiley; Volume: 68; Issue: 1 Linguagem: Italiano

10.1002/(sici)1096-8628(19970110)68

1096-8628

M. Siniscalco,

Metabolism and Genetic Disorders

American Journal of Medical GeneticsVolume 68, Issue 1 p. 94-97 In Memoriam Giorgio Filippi, April 4, 1935-January 19, 1996 Marcello Siniscalco, Corresponding Author Marcello Siniscalco Sardinian Center for Studies on Genomic Diversity, Cagliari, Italy200 E 89th Street, Apt 30D, New York, NY 10128Search for more papers by this author Marcello Siniscalco, Corresponding Author Marcello Siniscalco Sardinian Center for Studies on Genomic Diversity, Cagliari, Italy200 E 89th Street, Apt 30D, New York, NY 10128Search for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19970110)68:1 3.0.CO;2-JAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Bottini E, Filippi G, Maggioni G (1962): Comportamento di alcune frazioni proteiche plasmatiche nel corso di anemia emolitica acuta da favismo nel bambino. (Studio elettroforetico su gel di amido). Archiv It Ped 22: 368–374. Siniscalco M, Filippi G, Latte B (1964): Recombination between protan and deutan genes: data on their relative positions in respect to the G6PD locus. Nature 204: 1062–1064. Siniscalco M, Filippi G, Latte B, Piomelli S, Rattazzi M, Gavin J, Sanger R, Race RR (1966): Failure to detect linkage between Xg and other X-borne loci in Sardinians. Ann Hum Genet 29: 231–252. Siniscalco M, Bernini L, Filippi G, Latte B, Meera Khan P, Piomelli S, Rattazzi M (1966): Population genetics of hemoglobin variants, thalassemia and G6PD deficiency, with particular reference to the malaria hypothesis. Bull World Health Org 34: 379–393. Bottini E, Filippi G, Cozzi F, Maggioni G (1966): A particular benzidine-positive protein fraction in the plasma of newborn and children with various haemolytic conditions. Acta Haemat 36: 361–370. Bottini E, Filippi G, Cozzi F, Maggioni G (1966): Formation of a peculiar heme-protein fraction in plasmas containing hemoglobin. Experientia 22: 19. Modiano G, Filippi G, Brunelli F, Frattaroli W, Siniscalco M (1966): Studies on red cell acid phosphatases in Sardinia and Rome: absence of correlation with past malaria morbidity. Acta Genet Stat Med (Basel) 17: 17–28. Signoretti A, Filippi G, De Jong WW, Maggioni G (1966): Sindrome talassemica da interazione di Hb Lepore e beta-talassemia. Riv Clin Pediatr 78: 721–729. Bottini E, Modiano G, Businco L, Filippi G (1967): Differential effect of oxydized glutathione or acetylphenylhydrazine on individual electrophoretic components of red cell acid phosphates. Experientia 23: 107. Businco L, Spennati GF, Filippi G, Capotorti L, Bottini E (1967): Ricerche sul “principio tossico” della Vicia faba. Minerva Pediatrica 19: 608–610. Modiano G, Scozzari R, Gigliani F, Filippi G, Latte B (1967): Studies on red cell phosphoglucomutase and adenylatokinase polymorphisms in Sardinia. Rend Acc Naz Lincei, Cl Sc Fis Ser, VIII 42: 906–915. Filippi G, Macciotta A (1967): Xg blood-groups in muscular dystrophy. Lancet 2: 565. Modiano G, Filippi G, Scozzari R, Gigliani F, Latte B, Siniscalco M (1968): Studies of genetical polymorphism of the red cells in Sardinia. Search for interaction at the individual and population levels. Proc 9th Int Congr Life Ass Med Tel Aviv 1967, Karger, Basel, 143–163. Modiano G, Filippi G, Brunelli F, Siniscalco M (1968): Red cell acid phosphate activity in carriers of β-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency. Isr J Med Sc 4: 858–866. Filippi G, Meera Khan P (1968): Linkage studies on X-linked ichthyosis in Sardinia. Am J Human Genet 20: 564–569. Bottini E, Filippi G, Cozzi F, Maggioni G (1968): Remarks on the so-called “Hemoglobin Koelliker”. Letter to the Editor of Acta Haematologica 39: 60–61. Filippi G (1969): Case reports: A-1, the Rubinstein-Taybi Syndrome in a Negro. A-2, The Rubinstein Syndrome. Birth Defects: Original Article Series, Vol. V, No. 2: 208–212. Filippi G, Renuart AW (1969): Case reports: K-2, Limb anomalies in the Cornelia de Lange Syndrome; Adult patient. Birth Defects: Original Article Series, Vol. V, No. 3: 228–229. Lenzerini L, Meera Khan P, Filippi G, Rattazzi MC, Ray AK, Siniscalco M (1969): Characterization of glucose-6-phosphate dehydrogenase variants: I. Occurrence of a G6PD Seattle-like variant in Sardinia and its interaction with the G6PD Mediterranean variant. Am J Hum Genet 21: 142–153. Carbonara AO, Trinchieri G, Bedarida G, Filippi G (1970): A Caucasian population with a high frequency of Au carriers: Genetic analysis of the condition. Vox Sang 19: 288–294. Filippi G, McKusick VA (1970): The Beckwith-Wiedemann syndrome (The exomphalos-macroglossia-gigantism syndrome): Report of two cases and review of the literature. Medicine 49: 279–298. Bottini E, Modiano G, Santolamazza C, Filippi G, Businco L (1970): Studies of the in vitro effects of oxydized glutathione and acetylphenylhydrazine on acid phosphatases of human red blood cells. An experimental model for the investigation of hemolytic drug action at the molecular level. Clin Chim Acta 31: 243–254. Filippi G (1971): Hemifacial microsomia with vertebral anomalies: Case report. Birth Defects: Original Article Series, Vol. VII, No. 1, February 1971, 197–201. Filippi G (1971): Case reports: J-benign muscular dystrophy, Becker Type. Birth Defects: Original Article Series, Vol. VII, No. 2, March 1971, 110–112. Filippi G (1972): The syndrome of polydactyly, imperforate anus and vertebral anomalies. Birth Defects: Original Article Series, Vol. VIII, No. 2, March 1972, 88–94. Filippi G (1972): The Rubinstein-Taybi syndrome. Report of 7 cases. Clin Genet 3: 303–318. Rinaldi A, Filippi G, Siniscalco M (1976): Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 certain heterozygotes for G6PD deficiency in Sardinia. Am J Hum Genet 28: 496–505. Romeo G, Rinaldi A, Urbano F, Filippi G (1976): Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type). Am J Hum Genet 28: 506–513. Filippi G, Rinaldi A, Palmarino R, Seravalli E, Siniscalco M (1977): Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X-chromosome. Genetics 86: 199–212. Salabe GB, Filippi G (1977): Anticorpi anti-tireoglublina in pazienti con sindrome di Klinefelter e nei loro familiari. Minerva Endocrinologica 2: 169–174. Archidiacono N, Rocchi M, De Vonderweid U, Filippi G (1978): T (9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring. Hum Genet 40: 325–331. Rinaldi A, Velivasakis M, Latte B, Filippi G, Siniscalco M (1978): Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and Deutan). Am J Hum Genet 30: 339–345. Rocchi M, Stormi M, Archidiacono N, Filippi G (1979): Extra small metacentric chromosome identified as i(18p). J Med Genet 16: 69–73. Filippi G, Rinaldi A, Crisponi G, Daniels G, Siniscalco M (1979): X-mapping in man: Evidence against measurable linkage between anhydrotic ectodermal dysplasia and G6PD deficiency. J Med Genet 16: 223–224. Rinaldi A, Archidiacono N, Rocchi M, Filippi G (1979): Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis. J Med Genet 16: 225–226. Archidiacono N, Tecilazich D, Tonini G, Rocchi M, Filippi G (1979): Trisomy 20 p from maternal t(3;20) translocation. J Med Genet 16: 229–232. Archidiacono N, Rocchi M, Valente M, Filippi G (1979): X-pentasomy: a case and review. Hum Genet 52: 69–77. Giammarini A, Rocchi M, Zennaro W, Filippi G (1980): XX male with breast cancer. Clin Genet 18: 103–108. Lenzerini I, Benatti U, Morelli A, Pontremoli S, De Flora A, Piazza A, Rinaldi A, Filippi G, Siniscalco M (1981): Genetic variation in the quantitative levels of an NADP(H)-binding protein (FX) in human erythrocytes. Blood 57: 209–217. Simoni G, Fraccaro M, Arslanian A, Bacchetta M, Baccichetti C, Bignone FA, Cagiano A, Carbonara AO, Carozzi F, Cuoco C, Dagna Bricarelli F, Dallapiccola B, Dalpra L, Doria Lamba Carbone L, Ferranti G, Filippi G, Frateschi M, Gimelli G, Gualtieri RM, Lenzini E, Micara G, Migone N, Montacuti V, Neri G, Papa R, Pecile V, Rocchi M, Savin E, Serra A, Tenconi R, Terzoli GL, Tibiletti MG (1982): Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study. Hum Genet 60: 63–68. Siniscalco M, Szabo P, Filippi G, Rinaldi A (1982): Combination of old and new strategies for the molecular mapping of the human X-chromosome. In B Bonné-Tamir (ed): “ Human Genetics, Part A: The Unfolding Genome”. Alan R Liss, New York, pp 103–124. Filippi G, Rinaldi A, Archidiacono N, Rocchi M, Balazs I, Siniscalco M (1983): Brief report: Linkage between G6PD and fragile X-syndrome. Am J Med Genet 15: 113–119. Filippi G, Pecile V, Archidiacono N, Baragino E, Auber G, Rocchi M (1983): X-chromosome replication patterns in a case of X;9 balanced translocation. J Med Genet 20: 467–468. Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, Latte B, Siniscalco M (1984): Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. Hum Genet 65: 295–299. Filippi G, Mannucci PM, Coppola R, Farris A, Rinaldi A, Siniscalco M (1984): Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection and differential mutation rate in the two sexes. Am J Hum Genet 36: 44–71. Szabo P, Purrello M, Rocchi M, Archidiacono N, Alhadeff B, Filippi G, Toniolo D, Martini G, Luzzatto L, Siniscalco M (1984): Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci USA 81: 7855–7859. Rocchi M, Cigui I, Archidiacono N, Pecile V, Procelli G, Filippi G (1984): A young girl with ring(18) mosaicism: Cytogenetic studies and PEP A mapping. Clin Genet 26: 156–160. Rocchi M, Pecile V, Archidiacono N, Monni G, Dumez Y, Filippi G (1985): Prenatal diagnosis of the fragile-X in male monozygotic twins: Discordant expression of the fragile site in amniocytes. Prenat Diagn 5: 229–231. Roth E Jr, Rinaldi A, Fiori GM, Filippi G (1983): The laboratory use of butylnitrite for the production of methemoglobin. Am J Hemat 20: 153–159. Filippi G (1985): Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly: A new syndrome:? Am J Med Genet 22: 821–824. Webster C, Filippi G, Rinaldi A, Mastropaolo C, Tondi M, Siniscalco M, Blau HM (1986): Linkage analysis of Duchenne phenotype and G6PD isotype in myoblasts from doubly heterozygous carriers. In C Emerson, DA Fischman, B Nadal-Ginard, MAG Siddigui (eds): “ Molecular Biology of Muscle Development”. Alan R Liss, New York, pp 911–919. Webster C, Filippi G, Rinaldi A, Mastropaolo C, Tondi M, Siniscalco M, Blau HM (1986): The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation: Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD. Hum Genet 74: 74–80. Filippi G (1986): Klinefelter's syndrome in Sardinia. Clinical report of 265 hypogonadic males detected at the time of military check-up. Clin Genet 30: 276–284. Rinaldi A, Purrello M, Filippi G, Siniscalco M (1986): G6PD as a tool and a target for studies on X-chromosome linkage. In A Yoshida, E Beutler (eds): “ Glucose-6-Phosphate-Dehydrogenase”. Academic Press, New York, pp 389–403. Purrello M, Alhadeff B, Shittington E, Buckton KE, Daniel A, Arnaud P, Rocchi M, Archidiacono N, Filippi G, Siniscalco M (1987): Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing over. Cytogenet Cell Genet 44: 32–40. Siniscalco M, Filippi G, Rinaldi A, Purello M (1987): Molecular approach to diagnostic and preventive medicine. In R Gallo, G Della Porta, A Albertini (eds): “ Monoclonals and DNA Probes in Diagnostic and Preventive Medicine”. Raven Press, New York, pp 1–22. Rocchi M, Archidiacono N, Filippi G (1987): X-linked mental retardation: I. Martin-Bell syndrome (Report of 18 families). J Genet Hum 35: 351–379. Archidiacono N, Rocchi M, Rinaldi A, Filippi G (1987): X-linked mental retardation: II. Renpenning syndrome and other types (Report of 14 families). J Genet Hum 35: 381–398. Filippi G, Pecile V, Rinaldi A, Siniscalco M (1988): Fragile-X mutation and Klinefelter syndrome: a reappraisal. Am J Med Genet 30: 99–107. Carothers AD, Filippi G (1988): Klinefelter's syndrome in Sardinia and Scotland: Comparative studies of parental age and other aetiological factors in 47,XXY. Hum Genet 81: 71–75. Filippi G (1988): The de Lange syndrome: Report of 15 cases. Clin Genet 35: 343–363. Pecile V, Petroni MG, Fertz MC, Filippi G (1990): Deficiency of distal 8p-: Report of two cases and review of the literature. Clin Genet 37: 271–278. Rocchi M, Archidiacono N, Rinaldi A, Filippi G, Bartolucci G, Sanni C, Fancello C, Siniscalco M (1990): Mental retardation in heterozygotes fragile-X mutation: Evidence in favor of an X-inactivation-dependent effect. Am J Hum Genet 46: 738–743. Mestroni L, Miani D, Di Lenarda A, Silvestri F, Bussani R, Filippi G, Camerini F (1990): Clinical and pathologic study of familial dilated cardiomyopathy. Am J Cardiol 65: 1449–1453. Siniscalco M, Oberlé I, Melis P, Alhadeff B, Murray J, Filippi G, Mattioni T, Chen YT, Furneaux H, Old LJ, Posner JB (1991): Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site. Am J Med Genet 38: 357–362. Pecile V, Filippi G (1991): Screening for fra(X) mutation and Klinefelter syndrome in mental institutions. Clin Genet 39: 189–193. Cianchetti C, Sannio-Fancello G, Fratta AL, Manconi F, Orano A, Pischedda MP, Pruna D, Spinicci G, Archidiacono N, Filippi G (1991): Neuropsychological, psychiatric and physical manifestations in 149 members from 18 fragile-X families. Am J Med Genet 40: 234–243. Filippi G, Arslanian A, Dagna-Bricarelli F, Pierluigi M, Grasso M, Rinaldi A, Rocchi M, Siniscalco M (1991): Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD deficiency: I: A working hypothesis on the nature of the FRAX mutations. Am J Med Genet 40: 387–394. Cianchetti C, Filippi G, Sannio-Fancello G, Fratta AL, Marrosu MG, Dagna Bricarelli F, Siniscalco M (1992): Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: II. Neuropsychological and behavioral data. Am J Med Genet 43: 103–110. Cianchetti C, Sannio-Fancello G, Fratta AL, Pischedda MP, Spinicci G, Marrosu MG, Filippi G (1992): Neuropsychological studies in families with fragile-X negative X-linked mental retardation. Am J Med Genet 43: 505–509. Cristofori G, Filippi G (1992): Saethre-Chotzen syndrome with trigonocephaly. Am J Med Genet 44: 611–614. Pierluigi M, Perfumo A, Giannotti A, Filippi G, Stagni L, Bargiacchi S, Dagna Bricarelli F (1993): Definizione del cariotipo in 610 famiglie con figlio Down. Pathologica 85(Suppl.): 61–62. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JF (1993): Clinical variability within Brachmann-de Lange syndrome: A proposed classification system. Am J Med Genet 47: 947–958. Sherman SL, Maddalena A, Howard-Peebles PN, Brown WT, Nolin S, Jenkins F, Schwartz C, Tarrelton J, Shapiro LR, Smits APT, Van Oost BA, Youings S, Jacobs PA, Marinez F, Barnicoat A, Hockey A, Staley L, Hagerman R, Kennerknecht I, Steinbach P, Barbi G, Filippi G, Grasso M, Taylor SAM, Robinson H, Webb T, Broome D, Dixon J, Ferreira P, Gustavson KH, Meyer JL, Pai GS (1994): Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. Am J Med Genet 51: 503–506. Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G (1995): X-linked ichthyosis without STS deficiency. Am J Med Genet 59: 143–148. Robledo R, Melis P, Marchi J, Laficara F, Rocchi M, Siniscalco M, Filippi G (1996): A +2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers. Am J Med Genet 64: 134–136. Robledo R, Melis P, Laficara F, Marchi J, Rinaldi A, Siniscalco M, Filippi G (1996): Further linkage evidence for the localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region. Am J Med Genet 64: 107–112. Grasso M, Perroni L, Dagna Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G (1996): Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe. Am J Med Genet 64: 283–286. Volume68, Issue110 January 1997Pages 94-97 ReferencesRelatedInformation