Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E.
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy
of the Telomeric End of Chromosome 16.
Ann Hum Genet. 2007 May 29; [Epub ahead of print]
De Leon MP, Benatti P, Gregorio CD, Losi L, Pedroni M, Ponti G, Genuardi M,
Viel A, Lucci-Cordisco E, Rossi G, Roncucci L.
Genotype-phenotype correlations in individuals with a founder mutation in the
MLH1 gene and hereditary non-polyposis colorectal cancer.
Scand J Gastroenterol. 2007 Jun;42(6):746-53.
Pedroni M, Roncari B, Maffei S, Losi L, Scarselli A, Di Gregorio C, Marino M,
Roncucci L, Benatti P, Ponti G, Rossi G, Menigatti M, Viel A, Genuardi M, de Leon
MP.
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
Dis Markers. 2007;23(3):179-87.
Ricci U, Melean G, Robino C, Genuardi M.
A single mutation in the FGA locus responsible for false homozygosities and
discrepancies between commercial kits in an unusual paternity test case.
J Forensic Sci. 2007 Mar;52(2):393-6.
De Giorgi V, Salvini C, Sestini S, Vignoli M, Sestini R, Papi F, Lotti T.
Triple synchronous cutaneous melanoma: a clinical, dermoscopic, and genetic case study.
Dermatol Surg. 2007; 33:488-91
Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. (2007): The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Int J Mol Med. 19:429-35.
Giusti B, Gori AM, Marcucci R, Sestini I, Saracini C, Sticchi E, Gensini F,
Fatini C, Abbate R, Gensini GF.
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms
in Atrial Fibrillation Susceptibility.
PLoS ONE. 2007 Jun 6;2:e495.
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. (2007):13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet. 44:e60.
Lucci-Cordisco E, Boccuto L, Neri G, Genuardi M.
The use of microsatellite instability, immunohistochemistry and other variables
in determining the clinical significance of MLH1 and MSH2 unclassified variants
in Lynch syndrome.
Cancer Biomark. 2006;2(1-2):11-27. Review.
Fatini C, Sticchi E, Gensini F, Gori AM, Marcucci R, Lenti M, Michelucci A,
Genuardi M, Abbate R, Gensini GF.
Lone and secondary nonvalvular atrial fibrillation: Role of a genetic
susceptibility.
Int J Cardiol. 2006 Nov 17; [Epub ahead of print]
Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarra GB.
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Hum Mol Genet. 2006;15:2682-9.
Mannelli M, Simi L, Ercolino T, Gagliano MS, Becherini L, Vinci S, Sestini R,
Gensini F, Pinzani P, Mascalchi M, Guerrini L, Pratesi C, Nesi G, Torti F,
Cipollini F, Bernini GP, Genuardi M.
SDH mutations in patients affected by paraganglioma syndromes: a personal
experience.
Ann N Y Acad Sci. 2006 Aug;1073:183-9.
Fatini C, Sticchi E, Gensini F, Genuardi M, Tondi F, Gensini GF, Riviello C,
Parretti E, Mello G, Abbate R.
Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the
recurrence of negative pregnancy events, and the maternal-fetal flow.
J Hypertens. 2006 Sep;24(9):1823-9.
Fatini C, Sticchi E, Genuardi M, Sofi F, Gensini F, Gori AM, Lenti M,
Michelucci A, Abbate R, Gensini GF.
Analysis of minK and eNOS genes as candidate loci for predisposition to
non-valvular atrial fibrillation.
Eur Heart J. 2006 Jul;27(14):1712-8. Epub 2006 Jun 7.
Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E,
Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C,
Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M.
Activating PTPN11 mutations play a minor role in pediatric and adult solid
tumors.
Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9.
Marroni F, Pastrello C, Benatti P, Torrini M, Barana D, Cordisco EL, Viel A,
Mareni C, Oliani C, Genuardi M, Bailey-Wilson JE, Ponz de Leon M, Presciuttini S.
A genetic model for determining MSH2 and MLH1 carrier probabilities based on
family history and tumor microsatellite instability.
Clin Genet. 2006 Mar;69(3):254-62.
Pastrello C, Baglioni S, Tibiletti MG, Papi L, Fornasarig M, Morabito A,
Agostini M, Genuardi M, Viel A.
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer
patients with MSH2 intragenic deletion.
Eur J Hum Genet. 2006 Jan;14(1):63-8.
Zuffardi O, Ciccone R, Giglio S, Pramparo T (2006): Inversion Chromosomes in Genomic Disorders: The Genomic Base of Diseas edited by J. R. Lupski and P. Stankiewicz Humana Press, Totowa, NJ (2006).
Morganti M, Ciantelli M, Giglioni B, Putignano AL, Nobili S, Papi L, Landini
I, Napoli C, Valanzano R, Cianchi F, Boddi V, Tonelli F, Cortesini C, Mazzei T,
Genuardi M, Mini E.
Relationships between promoter polymorphisms in the thymidylate synthase gene and
mRNA levels in colorectal cancers.
Eur J Cancer. 2005 Sep;41(14):2176-83.
Fedi S, Gensini F, Gori AM, Abbate R, Borsini W.
Homocysteine and tissue factor pathway inhibitor levels in patients with Fabry's
disease.
J Thromb Haemost. 2005 Sep;3(9):2117-9.
Losi L, Di Gregorio C, Pedroni M, Ponti G, Roncucci L, Scarselli A, Genuardi
M, Baglioni S, Marino M, Rossi G, Benatti P, Maffei S, Menigatti M, Roncari B,
Ponz de Leon M.
Molecular genetic alterations and clinical features in early-onset colorectal
carcinomas and their role for the recognition of hereditary cancer syndromes.
Am J Gastroenterol. 2005 Oct;100(10):2280-7.
Simi L, Sestini R, Ferruzzi P, Gagliano MS, Gensini F, Mascalchi M, Guerrini
L, Pratesi C, Pinzani P, Nesi G, Ercolino T, Genuardi M, Mannelli M.
Phenotype variability of neural crest derived tumours in six Italian families
segregating the same founder SDHD mutation Q109X.
J Med Genet. 2005 Aug;42(8):e52.
Fatini C, Pratesi G, Sofi F, Gensini F, Sticchi E, Lari B, Pulli R, Dorigo W, Azas L, Pratesi C, Gensini GF, Abbate R.
ACE DD genotype: a predisposing factor for abdominal aortic aneurysm.
Eur J Vasc Endovasc Surg. 2005 Mar;29(3):227-32.
Mello G, Parretti E, Fatini C, Riviello C, Gensini F, Marchionni M, Scarselli
GF, Gensini GF, Abbate R.
Low-molecular-weight heparin lowers the recurrence rate of preeclampsia and
restores the physiological vascular changes in angiotensin-converting enzyme DD
women.
Hypertension. 2005 Jan;45(1):86-91. Epub 2004 Nov 22.
Ercoli A, Ferrandina G, Genuardi M, Zannoni GF, Cicchillitti L, Raspaglio G,
Carrara S, Mancuso S, Scambia G.
Microsatellite instability is not related to response to cisplatin-based
chemotherapy in cervical cancer.
Int J Gynecol Cancer. 2005 Mar-Apr;15(2):308-11.
Baglioni S, Melean G, Gensini F, Santucci M, Scatizzi M, Papi L, Genuardi M.
A kindred with MYH-associated polyposis and pilomatricomas.
Am J Med Genet A. 2005 Apr 15;134(2):212-4.
Lucci-Cordisco E, Zollino M, Baglioni S, Mancuso I, Lecce R, Gurrieri F,
Crucitti A, Papi L, Neri G, Genuardi M.
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary
non-polyposis colorectal cancer.
Clin Genet. 2005 Feb;67(2):178-82.
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Lagana C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. (2005) Reciprocal translocations: a trap for cytogenetists? Hum Genet. 117:571-82.
Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O. (2005) 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. Am J Med Genet 133:189-192.
Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT,
Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C,
Joncourt F, Parry DM, Rouleau GA, Evans DG.
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
J Med Genet. 2005 42:540-6. Review.
Sestini R, Putignano AL, Ammannati F, Papi L.
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex
fluorescent PCR.
Genet Test. 2005 9:14-9.
Bagnoli S, Putignano AL, Melean G, Baglioni S, Sestini R, Milla M, d'Albasio
G, Genuardi M, Pacini F, Trallori G, Papi L.
Susceptibility to refractory ulcerative colitis is associated with polymorphism
in the hMLH1 mismatch repair gene.
Inflamm Bowel Dis. 2004 Nov;10(6):705-8.
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala
E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S,
Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F,
Calzolari E.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD)
risk: an Italian multicentric prenatal survey.
Prenat Diagn. 2004 Aug;24(8):647-52.
Baglioni S, Genuardi M.
Simple and complex genetics of colorectal cancer susceptibility.
Am J Med Genet C Semin Med Genet. 2004 Aug 15;129(1):35-43. Review.
Genuardi M.
Inherited cancer predisposition.
Am J Med Genet C Semin Med Genet. 2004 Aug 15;129(1):1-4. No abstract available.
Gori AM, Marcucci R, Fatini C, Gensini F, Sticchi E, Sodi A, Cappelli S,
Menchini U, Gensini GF, Abbate R, Prisco D.
Impaired fibrinolysis in retinal vein occlusion: a role for genetic determinants
of PAI-1 levels.
Thromb Haemost. 2004 Jul;92(1):54-60.
Sticchi E, Fatini C, Gensini F, Battaglini B, Liotta AA, Abbate R.
High-speed detection of the G894T polymorphism in exon 7 of the eNOS gene by
real-time fluorescence PCR with the Light-Cycler.
Biochem Genet. 2004 Apr;42(3-4):121-7.
Fatini C, Sofi F, Gensini F, Sticchi E, Lari B, Pratesi G, Pulli R, Dorigo W,
Pratesi C, Gensini GF, Abbate R.
Influence of eNOS gene polymorphisms on carotid atherosclerosis.
Eur J Vasc Endovasc Surg. 2004 May;27(5):540-4.
Fatini C, Sofi F, Sticchi E, Gensini F, Gori AM, Fedi S, Lapini I, Rostagno
C, Comeglio M, Brogi D, Gensini G, Abbate R.
Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b,
T-786C) and hyperhomocysteinemia on the predisposition to acute coronary
syndromes.
Am Heart J. 2004 Mar;147(3):516-21.
Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F,
Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M,
Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde
R, Wijnen JT, Brocker-Vriends AH, Vasen H.
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations:
impact on counseling and surveillance.
Gastroenterology. 2004 Jul;127(1):17-25.
Caliumi C, De Toma G, Bossini A, Cianci R, Bosman C, Genuardi M, Cerci S,
Letizia C.
A rare combination consisting of aldosterone-producing adenoma and adrenal
myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene.
J Renin Angiotensin Aldosterone Syst. 2004 Mar;5(1):45-8.
Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger
A, Benatti P, Pedroni M, Colibazzi T, Bellacosa A, Neri G, Ponz de Leon M, Viel
A, Genuardi M.
A founder MLH1 mutation in families from the districts of Modena and
Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer
associated with protein elongation and instability.
J Med Genet. 2004 Mar;41(3):e34. No abstract available.
Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L, Genuardi M, Viel
A, Fornasarig M, Lucci-Cordisco E, Anti M, Ponti G, Borghi F, Lamberti I,
Roncucci L.
Genetic testing among high-risk individuals in families with hereditary
nonpolyposis colorectal cancer.
Br J Cancer. 2004 Feb 23;90(4):882-7.
Ponz de Leon M, Benatti P, Borghi F, Pedroni M, Scarselli A, Di Gregorio C,
Losi L, Viel A, Genuardi M, Abbati G, Rossi G, Menigatti M, Lamberti I, Ponti G,
Roncucci L.
Aetiology of colorectal cancer and relevance of monogenic inheritance.
Gut. 2004 Jan;53(1):115-22.
Pramparo T, Giglio S, Gregato G, De Gregori M, Grazia Patricelli M, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. (2004) Inverted duplications: how many of them are mosaic? Eur J Hum Genet. 12(9):713-7.
Giorda R, Cerritello A, Bonaglia MC, Bova S, Lanzi G, Repetti E, Giglio S, Baschirotto C, Pramparo T, Avolio L, Bragheri R, Maraschio P, Zuffardi O. (2004) Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet. 41(6):E71.
Melean G, Sestini R, Ammannati F, Papi L.
Genetic insights into familial tumors of the nervous system.
Am J Med Genet C Semin Med Genet. 2004 129:74-84. Review.
Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bruni V, Scarselli G.
Premature ovarian failure and fragile X premutation: a study on 45 women.
Eur J Obstet Gynecol Reprod Biol. 2004 112:189-91.
Rizzo M, Gensini F, Fatini C, Manetti P, Pucci N, Capalbo A, Vono MC, Galanti G.
ACE I/D polymorphism and cardiac adaptations in adolescent athletes.
Med Sci Sports Exerc. 2003 Dec;35(12):1986-90.
Lucci-Cordisco E, Zito I, Gensini F, Genuardi M.
Hereditary nonpolyposis colorectal cancer and related conditions.
Am J Med Genet A. 2003 Nov 1;122(4):325-34. Review.
Mello G, Parretti E, Gensini F, Sticchi E, Mecacci F, Scarselli G, Genuardi
M, Abbate R, Fatini C.
Maternal-fetal flow, negative events, and preeclampsia: role of ACE I/D
polymorphism.
Hypertension. 2003 Apr;41(4):932-7. Epub 2003 Mar 24.
Concolino D, Iembo MA, Marotta R, Rossi E, Moricca MT, Giglio S, Strisciuglio P. (2003) Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. Am J Med Genet. 123 (A) :201-203.
Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A. (2003) De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. Am J Med Genet. 117 :207-211.
Soragna D, Papi L, Ratti MT, Sestini R, Tupler R, Montalbetti L.
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation
in the TREM2 gene.
J Neurol Neurosurg Psychiatry. 2003 74:825-6.
Erratum in: J Neurol Neurosurg Psychiatry. 2003 74:1165.
Mantripragada KK, Buckley PG, Benetkiewicz M, De Bustos C, Hirvela C, Jarbo
C, Bruder CE, Wensman H, Mathiesen T, Nyberg G, Papi L, Collins VP, Ichimura K,
Evans G, Dumanski JP.
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.
Int J Oncol. 2003 22:615-22.
Fatini C, Gensini F, Sticchi E, Battaglini B, Prisco D, Fedi S, Brunelli T,
Marcucci R, Conti AA, Gensini GF, Abbate R.
ACE DD genotype: an independent predisposition factor to venous thromboembolism.
Eur J Clin Invest. 2003 Aug;33(8):642-7.
Gensini F, Padeletti L, Fatini C, Sticchi E, Gensini GF, Michelucci A.
Angiotensin-converting enzyme and endothelial nitric oxide synthase polymorphisms
in patients with atrial fibrillation.
Pacing Clin Electrophysiol. 2003 Jan;26(1 Pt 2):295-8.
Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M,
Pucciarelli S, Rovella V, Quaia M, Ponz de Leon M, Boiocchi M, Genuardi M.
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
Hum Mutat. 2002 Nov;20(5):368-74.
Ceccaroni M, Genuardi M, Legge F, Lucci-Cordisco E, Carrara S, D'Amico F,
Greggi S, Scambia G.
BRCA1-related malignancies in a family presenting with von Recklinghausen's
disease.
Gynecol Oncol. 2002 Sep;86(3):375-8.
Resta N, Stella A, Susca FC, Di Giacomo M, Forleo G, Miccolis I, Rossini FP,
Genuardi M, Piepoli A, Grammatico P, Guanti G.
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.
Hum Mutat. 2002 Jul;20(1):78-9.
Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. (2002) Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet. 111:235-41.
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. (2002) Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet. 71:276-85.
Fatini C, Gensini F, Sticchi E, Battaglini B, Angotti C, Conforti ML,
Generini S, Pignone A, Abbate R, Matucci-Cerinic M.
High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and
endothelial nitric oxide synthase (Glu298Asp) in patients with systemic
sclerosis.
Am J Med. 2002 May;112(7):540-4.
Abbate R, Sofi F, Gensini F, Fatini C, Sticchi E, Fedi S.
Thrombophilias as risk factors for disorders of pregnancy and fetal damage.
Pathophysiol Haemost Thromb. 2002 Sep-Dec;32(5-6):318-21. Review.
