2010

Ragona F, Brazzo D, Giorgi ID, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, Granata T.
Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev. 2010 Jan;32(1):71-7.

2009

Belligni Elga F, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Cirillo Silengo M.
Subtelomeric FISH analysis in 76 patients with syndromic development delay intelectual disability. Riv Ital Pediatr. 2009 Apr 27;35(1):9.

Capra V, De Marco P, Merello E, Baffico AM, Baldi M, Divizia MT, Gimelli S, Mallet D, Raso A, Mascelli S, Tomà P, Rossi A, Pavanello M, Cama A, Magnani C. 
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. Eur J Med Genet. 2009 Jan-Feb;52(1):17-22.

Di Maria E, Bonvicini C. Bonomini C, Alberici A, Zanetti O, Gennarelli M. 
Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease. Journal of Alzheimer's Disease 2009;18(4):953-60

Di Maria E, Cammarata S, Parodi MI, Borghi R, Benussi L, Galli M, Galimberti D, Ghidoni R, Gonella D, Novello C, Pollero V, Perroni L, Odetti P, Scarpini E, Binetti G, Tabaton M. 
The H1 Haplotype of the Tau Gene (MAPT) is Associated with Mild Cognitive Impairment. J Alzheimers Dis. 2009 Nov 17

Di Nunzio S, Cecconi M, Passerini L, McMurchy AN, Baron U, Turbachova I, Vignola S, Valencic E, Tommasini A, Junker A, Cazzola G, Olek S, Levings MK, Perroni L, Roncarolo MG, Bacchetta R.
Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations. Blood. 2009 Nov 5;114(19):4138-41.

Faà V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC. 
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem. 2009 Oct 30;284(44):30024-31.

Ferretti M, Gattorno M, Chiocchetti A, Mesturini R, Orilieri E, Bensi T, Sormani MP, Cappellano G, Cerutti E, Nicola S, Biava A, Bardelli C, Federici S, Ceccherini I, Baldi M, Santoro C, Dianzani I, Martini A, Dianzani U. 
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis Rheum. 2009 Nov;60(11):3476-84.

Forzano F, Viassolo V, Castagnetta M, Cavani S, Battistuzzi L, Garbati E, Emiliozzi MC, Cecchi A, Faravelli F, Lituania M.
Prenatal diagnosis of Gollop-Wolfgang Complex. Prenat Diagn. 2009 Jul;29(7):724-6.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009 Mar;149A(3):417-26

Gattorno M, Caorsi R, Meini A, Cattalini M, Federici S, Zulian F, Cortis E, Calcagno G, Tommasini A, Consolini R, Simonini G, Pelagatti MA, Baldi M, Ceccherini I, Plebani A, Frenkel J, Sormani MP, Martini A.
Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics. 2009 Oct;124(4):e721-8.

Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, Piombo G, Pierluigi M, Faravelli F, Guerneri S, Coviello D, Lalatta F, Cavallari U, Bellotti D, Barlati S, Croci G, Franchi F, Savin E, Nocera G, Amico FP, Granata P, Casalone R, Nutini L, Lisi E, Torricelli F, Giussani U, Facchinetti B, Guanti G, Di Giacomo M, Susca FP, Pecile V, Romitti L, Cardarelli L, Racalbuto E, Police MA, Chiodo F, Rodeschini O, Falcone P, Donti E, Grimoldi MG, Martinoli E, Stioui S, Caufin D, Lauricella SA, Tanzariello SA, Voglino G, Lenzini E, Besozzi M, Larizza L, Dalprà L.
De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn. 2009 Mar;29(3):257-65.

Grasso M, Cecconi M, Boni S, Forzano F, Barbaresi M, Memo L, Perroni L, Faravelli F, Di Maria E.
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype. Mol Cell Probes. 2009 Oct 21.

Lombardi MS, Jaspers L, Spronkmans C, Gellera C, Taroni F, Di Maria E, Di Donato S, Kaemmerer WF.
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Experimental Neurology 217(2):312-319, 2009.

Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. Epilepsia. 2009 Mar 11

Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC.
The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol. 2009 Jan;62(1):13-7.

Mosca A, Paleari R, Leone D, Ivaldi G.
The relevance of hemoglobin F measurement in the diagnosis of thalassemias and releted hemoglobinopathies. Clinical biochemistry 42, 1797-1801, 2009

Phylipsen M, Amato A, Cappabianca MP, Traeger-Synodinos J, Kanavakis E, Basak N, Galanello R, Tuveri T, Ivaldi G, Harteveld CL, Giordano PC.
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and Turkish couple seeking prevention. Hematologica, 94(9): 1289-1292, 2009.

Ragona F, Brazzo D, Giorgi ID, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, Granata T.
Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev. 2010 Jan;32(1):71-7.

2008

• Gambineri E, Perroni L, Passerini L, et all. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1
• Sessarego N, Parodi A, Podestà M, Benvenuto F, Mogni M, Raviolo V, Lituania M, Kunkl A, Ferlazzo G, Bricarelli FD, Uccelli A, Frassoni F. Multipotent mesenchymal stromal cells from amniotic fluid: solid perspectives for clinical application. Haematologica. 2008 Mar;93(3):339-46
• Zhan H, Sinclair J, Adams S, Cale CM, Murch S, Perroni L, Davies G, Amrolia P, Qasim W. Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Pediatrics. 2008 Apr;121(4):e998-1002
• Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M, Corsello G. 10qter deletion: a new case. Am J Med Genet A. 2008 Sep 15;146A(18):2435-8
• Floridia G, Falbo V, Censi F, Tosto F, Salvatore M, Baroncini A, Battaglia P, Conti A, Donti E, La Starza R, Nitsch L, Pierluigi M, Piombo G, Susca F, Mancini M, Mecucci C, Calzolari E, Dagna Bricarelli F, Guanti G, Taruscio D. The Italian external quality assessment scheme in classical cytogenetics: four years of activity. Community Genet. 2008;11(5):295-303
• Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F.  Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. Am J Med Genet A. 2008 Mar 15;146A(6):784-6
• Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martini A. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008 Jun;58(6):1823-32
• Viassolo V, Previtali SC, Schiatti E, Magnani G, Minetti C, Zara F, Grasso M, Dagna-Bricarelli F, Di Maria E. Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. Clin Genet. 2008 Jul;74(1):54-60
• Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. J Mol Diagn. 2008 May;10(3):272-5
• Falbo V, Floridia G, Tosto F, Censi F, Salvatore M, Ravani A, Ferlini A, Melis MA, Grasso M, Bricarelli FD, Taruscio D.  The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey. Genet Test. 2008 Jun;12(2):279-88
• Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F. Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. Neurogenetics. 2008 May;9(2):139-42
• Corselli M, Parodi A, Mogni M, Sessarego N, Kunkl A, Dagna-Bricarelli F, Ibatici A, et all.  Clinical scale ex vivo expansion of cord blood-derived outgrowth endothelial progenitor cells is associated with high incidence of karyotype aberrations. Exp Hematol. 2008 Mar;36(3):340-9
• Wang Y, Mulligan C, Denyer G, Delom F, Dagna-Bricarelli F, Tybulewicz VL, et all. Quantitative proteomic characterisation of a mouse embryonic stem cell model of down syndrome. Mol Cell Proteomics. 2008 Nov 10
• Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F. Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. Am J Med Genet A. 2008 Nov 12

2007

• Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari  F, Forabosco A. Pure segmental trisomy 1q42-qter in a boy with a severe phenotype. Am J Med Genet A. 143(19), 2339-2342 (2007)
• Hastings RJ, Cavani S, Dagna-Bricarelli F, Patsalis PC, Kristoffersson U; ECA PWG Co-ordinators. Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations. Eur J Hum Genet. 15(5),525-7 (2007)
• De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J. Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. Br J Haematol. 137(4),337-41 (2007)
• Striano P, Coppola A, Madia F, Pezzella M, Zara F, Striano S. Life-Threatening Status Epilepticus Following Gabapentin Administration in a Patient with Benign Adult Familial Myoclonic Epilepsy. Epilepsia. 48(10),1995-8 (2007)
• Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia. 48(6), 1092-6 (2007)
• Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna-Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Natural gene-expression variation in down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet. 2007 81(2), 252-63
• Faravelli F, Murdolo M, Marangi G, Dagna-Bricarelli F, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of  familial recurrence in microdeletion syndromes. Am J Med Genet A. 143(11):1169-73 (2007)
• Striano P, Coppola A, Pezzella M, Ciampa C, Specchio N, Ragona F, Mancardi MM, Gennaro E, Beccaria F, Capovilla G, Rasmini P, Besana D, Coppola GG, Elia M, Granata T, Vecchi M, Vigevano F, Viri M, Gaggero R, Striano S, Zara F. An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology. 69(3),250-4 (2007)
• G. Ivaldi, D.Leone, C.Viaggi, D. Pascotto Variabilità delle frazioni emoglobiniche dalla nascita all'età adulta in condizioni fisiologiche e patologiche Biochim. Clin. 31(4), 276-279 (2007)
• Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. Am J Med Genet A. 143(22)2733-7(2007)
• Gulli R., Masnata B., Bonvicini C., Tura G.B., Manglaviti L., Vaggi M., Mollica M., Bellone E., Mandich P., Gennarelli M., Di Maria E. A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study. Psychiatric Genetics, 17,355-356 (2007)

2006

• Myers AK, Perroni L, Costigan C, Reardon W.
  Clinical and molecular findings in IPEX syndrome.
  Arch Dis Child. 2006 Jan;91(1):63-4
• Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F.
  Clinical and genetic findings in 26 Italian patients with Lafora disease.
  Epilepsia. 2006 Mar;47(3):640-3
• Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M.
  Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
  Am J Med Genet A. 2006 Apr 15;140(8):892-4
• Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C.
  Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
  Brain Dev. 2006 Apr;28(3):155-61
• Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F.
  6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
  Epilepsia. 2006 May;47(5):830-8
• De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG.
  Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
  Clin Gastroenterol Hepatol. 2006 May;4(5):653-9
• Buoni S, Zannolli R, Macucci F, Pucci L, Mogni M, Pierluigi M, Fois A. 
  Familial robertsonian 13;14 translocation with mental retardation and epilepsy.
  J Child Neurol. 2006 Jun;21(6):531-3
• Striano P, Lispi ML, Gennaro E, Madia F, Traverso M, Bordo L, Aridon P, Boneschi FM, Barone B, dalla Bernardina B, Bianchi A, Capovilla G, De Marco P, Dulac O, Gaggero R, Gambardella A, Nabbout R, Prud'homme JF, Day R, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri M, Minetti C, Zara F.
  Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
  Epilepsia. 2006 Jun;47(6):1029-34
• Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F.
  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal diagnosis
  Prenatal Diagnosis, 2006 May;26(5):487-9
• Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG.
  Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
  J Clin Invest. 2006 Jun;116(6):1713-22
• Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F.
  Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
  Am J Med Genet A. 2006 Sep 15;140(18):1944-9
• Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F.
  Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
  Neurology. 2006 Oct 10;67(7):1230-5
• Margherita Mancardi M, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F.
  Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
  Epilepsia. 2006 Oct;47(10):1629-35
• Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. 
  The natural history of Cri du Chat Syndrome. a report from the Italian Register.
  Eur J Med Genet. 2006 Sep-Oct;49(5):363-83

2005

• Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarra GB. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. 2005; 31(3):351-4
• Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A. 2005 30;134(3):247-53
• Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.  Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005 25(3):322-3
• Corsello G, Giuffrè M, Piccione M, Piro E, Cassata N, Cavani S, Malacarne M, Pierluigi M Rare chromosomal abnormalities : a mosaic of four cell lines with two rings involving chromosomes X ansìd 21.First report in a male newborn patient. Ital J Pediatr. 2005, 31:70-76
• Groet J, Mulligan C, Spinelli M, Serra A, McElwaine S, Cotter FE, Dagna-Bricarelli F, Saglio G, Basso G, Nizetic D. Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome. Blood. 2005 1;106(5):1887-8
• Dalpra L, Giardino D, Finelli P, Corti C, Valtorta C, Guerneri S, Ilardi P, Fortuna R, Coviello D, Nocera G, Amico FP, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Barlati S, Bellotti D, Caufin D, Police A, Cavani S, Piombo G, Pierluigi M, Larizza L. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories. Genet Med. 2005; 7(9):620-625
• Baykan B, Striano P, Gianotti S, Bebek N, Gennaro E, Gurses C, Zara F. Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. Epilepsia. 2005; 46(10):1695-7
• Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C. Global developmental delay, osteopenia and ectodermal defect: A new syndrome. Brain Dev. 2005,17
• De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio A.G. Mechanisms associations of a mild phenotype of IPEX Syndrome Clinical Gastroenterology and Hepatology 2005 (in press)
• Pantieri R, Pardini M, Cecconi M, Dagna-Bricarelli F, Vitali A, Piccini A, Russo R, Borghi R, Tabaton M. A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease. Neurol Sci. 2005 Dec;26(5):349-50

2004

• Assini A, Cammarata S, Vitali A, Colucci M, Giliberto L, Borghi R, Inglese ML, Volpe S, Ratto S, Dagna-Bricarelli F, Baldo C, Argusti A, Odetti P, Piccini A, Tabaton M. Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment. Neurology. 2004 14;63(5):828-31
• 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; 24(8):647-52
• Elwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Mensah A, Cavani S, Baldo C, Dagna-Bricarelli F, Hann I, Basso G, Cotter FE, Nizetic D. Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker. Br J Haematol. 2004; 125(6):729-42
• Guida V, Colosimo A, Fiorito M, Foglietta E, Bianco I, Ivaldi G, Fichera M, Dallapiccola B. Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias. Clin Chem. 2004; 50(7):1242-5
• Castelli R, Tempesta A, Bianchi A, Porro T, Ivaldi G, Cappellini MD. Unreliable estimation of HbA due to the presence of Camperdown haemoglobin [beta 104 (G6) Arg --> Ser]. Diabet Med. 2004; 21(4):377-9
• Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M,Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004;1;128(4):340-51
• Foppiani L, Baffico M, Lando G, Cappi C, De Cassan P, Patrosso MC, Vitali A, Penco S, Giusti M, Minuto F. Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21beta-hydroxylase deficiency. J Endocrinol Invest. 2004; 27(4):370-4
• Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn. 2004; 24(11):918-22
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