DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN GENETICA ONCOLOGIA E MEDICINA CLINICA

UNIVERSITA' DEGLI STUDI  DI SIENA

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Publications from 2005 to 2010

 
Renieri Alessandra     
 
  • MAKRYTHANASIS P, KAPRANOV P, BARTOLONI L, REYMOND A, DEUTSCH S, GUIGÓ R, DENOEUD F, DRENKOW J, ROSSIER C, ARIANI F, CAPRA V, EXCOFFIER L, RENIERI A., GINGERAS TR, ANTONARAKIS SE (2009). Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. HUMAN MUTATION, vol. 30; p. 866-879, ISSN: 1059-7794
  • MARCOCCI E, ULIANA V, BRUTTINI M, ARTUSO R, SILENGO MC, ZERIAL M, BERGESIO F, AMOROSO A, SAVOLDI S, PENNESI M, GIACHINO D, ROMBOLÀ G, FOGAZZI GB, ROSATELLI C, MARTINHAGO CD, CARMELLINI M, MANCINI R, DI COSTANZO G, LONGO I, RENIERI A., MARI F (2009). Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 24; p. 1464-1471, ISSN: 0931-0509
  • GAUDIANO C, MALANDRINI A, POLLAZZON M, MURRU S, MARI F, RENIERI A., FEDERICO A (2009). Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family. BRAIN & DEVELOPMENT, ISSN: 0387-7604
  • KATZAKI E, PAPA FT, MUCCIOLO M, ULIANA V, RENIERI A. (2009). Is HSD17B1 a new sex reversal gene in human?. MOLECULAR AND CELLULAR ENDOCRINOLOGY, ISSN: 0303-7207
  • 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 (2009). Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 149A; p. 417-426, ISSN: 1552-4825
  • SQUILLARO T, ALESSIO N, CIPOLLARO M, RENIERI A., GIORDANO A, GALDERISI U (2010). Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA. FASEB JOURNAL, ISSN: 0892-6638
  • RODRIGUEZ JD, BHAT SS, MELONI I, LADD S, LESLIE ND, DOYNE EO, RENIERI A., DUPONT BR, STEVENSON RE, SCHWARTZ CE, SRIVASTAVA AK (2010). Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 152A; p. 713-717, ISSN: 1552-4825
  • FREZZOTTI P, PESCUCCI C, PAPA FT, IESTER M, MITTICA V, MOTOLESE I, PERUZZI S, ARTUSO R, LONGO I, MENCARELLI MA, MITTICA P, MOTOLESE E, RENIERI A. (2010). Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. BRITISH JOURNAL OF OPHTHALMOLOGY, ISSN: 0007-1161
  • KATZAKI E, MORIN G, POLLAZZON M, PAPA FT, BUONI S, HAYEK J, ANDRIEUX J, LECERF L, POPOVICI C, RECEVEUR A, MATHIEU-DRAMARD M, RENIERI A., MARI F, PHILIP N (2010). Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 152A; p. 1711-1717, ISSN: 1552-4825
  • PARRI V, KATZAKI E, ULIANA V, SCIONTI F, TITA R, ARTUSO R, LONGO I, BOSCHLOO R, VIJZELAAR R, SELICORNI A, BRANCATI F, DALLAPICCOLA B, ZELANTE L, HAMEL CP, SARDA P, LALANI SR, GRASSO R, BUONI S, HAYEK J, SERVAIS L, DE VRIES BB, GEORGOUDI N, NAKOU S, PETERSEN MB, MARI F, RENIERI A., ARIANI F (2010). High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 18; p. 1133-1140, ISSN: 1018-4813
  • PINTAUDI M, CALEVO MG, VIGNOLI A, PARODI E, AIELLO F, BAGLIETTO MG, HAYEK Y, BUONI S, RENIERI A., RUSSO S, COGLIATI F, GIORDANO L, CANEVINI M, VENESELLI E (2010). Epilepsy in Rett syndrome: Clinical and genetic features. EPILEPSY & BEHAVIOR, ISSN: 1525-5050
  • ARTUSO R, MENCARELLI MA, POLLI R, SARTORI S, ARIANI F, POLLAZZON M, MAROZZA A, CILIO MR, SPECCHIO N, VIGEVANO F, VECCHI M, BONIVER C, BERNARDINA BD, PARMEGGIANI A, BUONI S, HAYEK G, MARI F, RENIERI A., MURGIA A (2009). Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria. BRAIN & DEVELOPMENT, ISSN: 0387-7604
  • ULIANA V, GROSSO S, CIONI M, ARIANI F, PAPA FT, TAMBURELLO S, ROSSI E, KATZAKI E, MUCCIOLO M, MAROZZA A, POLLAZZON M, MENCARELLI MA, MARI F, BALESTRI P, RENIERI A. (2010). 3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 53; p. 168-170, ISSN: 1769-7212
  • MARI F, HERMANNS P, GIOVANNUCCI-UZIELLI ML, GALLUZZI F, SCOTT D, LEE B, RENIERI A., UNGER S, ZABEL B, SUPERTI-FURGA A (2009). Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 17; p. 1141-1147, ISSN: 1018-4813
  • MENCARELLI M, SPANHOL-ROSSETO A, ARTUSO R, RONDINELLA D, DE FILIPPIS R, BAHI-BUISSON N, NECTOUX J, RUBINSZTAJN R, BIENVENU T, MONCLA A, CHABROL B, VILLARD L, KRUMINA Z, ARMSTRONG J, ROCHE A, PINEDA M, GAK E, MARI F, ARIANI F, RENIERI A. (2009). Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. JOURNAL OF MEDICAL GENETICS, ISSN: 0022-2593
  • MENCARELLI MA, KLEEFSTRA T, KATZAKI E, PAPA FT, COHEN M, PFUNDT R, ARIANI F, MELONI I, MARI F, RENIERI A. (2009). 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 52; p. 148-152, ISSN: 1769-7212
  • SQUILLARO T, CAMBI F, CIACCI G, ROSSI S, ULIVELLI M, MALANDRINI A, MENCARELLI MA, MARI F, RENIERI A., ARIANI F (2007). Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease. JOURNAL OF HUMAN GENETICS, vol. 53 (3); p. 201-204, ISSN: 1435-232X
  • SCALA E, LONGO I, OTTIMO F, SPECIALE C, SAMPIERI K, KATZAKI E, ARTUSO R, MENCARELLI MA, D'AMBROGIO T, VONELLA G, ZAPPELLA M, HAYEK G, BATTAGLIA A, MARI F, RENIERI A., ARIANI F (2007). MECP2 deletions and genotype-phenotype correlation in Rett syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 143A (23); p. 2775-2784, ISSN: 1552-4825
  • MENCARELLI MA, KATZAKI E, PAPA FT, SAMPIERI K, CASELLI R, ULIANA V, POLLAZZON M, CANITANO R, MOSTARDINI R, GROSSO S, LONGO I, ARIANI F, MELONI I, HAYEK J, BALESTRI P, MARI F, RENIERI A. (2008). Private inherited microdeletion/microduplications: implications in clinical practice. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 51(5); p. 409-416, ISSN: 1769-7212
  • PAPA FT, MENCARELLI MA, CASELLI R, KATZAKI E, SAMPIERI K, MELONI I, ARIANI F, LONGO I, MAGGIO A, BALESTRI P, GROSSO S, FARNETANI MA, BERARDI R, MARI F, RENIERI A. (2008). A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 15; p. 1994-1998, ISSN: 1552-4825
  • SAMPIERI K, MENCARELLI MA, CARMELA EPISTOLATO M, TOTI P, LAZZI S, BRUTTINI M, DE FRANCESCO S, LONGO I, MELONI I, MARI F, ACQUAVIVA A, HADJISTILIANOU T, RENIERI A., ARIANI F (2008). Genomic differences between retinoma and retinoblastoma. ACTA ONCOLOGICA, vol. 47(8); p. 1483-1492, ISSN: 0284-186X
  • SQUILLARO T, HAYEK G, FARINA E, CIPOLLARO M, RENIERI A., GALDERISI U (2008). A case report: bone marrow mesenchymal stem cells from a Rett syndrome patient are prone to senescence and show a lower degree of apoptosis. JOURNAL OF CELLULAR BIOCHEMISTRY, vol. 103(6); p. 1877-1885, ISSN: 0730-2312
  • ULIANA V, GIORDANO N, CASELLI R, PAPA FT, ARIANI F, MARCOCCI C, GIANETTI E, MARTINI G, PAPAKOSTAS P, ROLLO F, MELONI I, MARI F, PRIOLO M, RENIERI A., NUTI R (2008). Expanding the phenotype of 22q11 deletion syndrome: the MURCS association. CLINICAL DYSMORPHOLOGY, vol. 17 (1); p. 13-17, ISSN: 0962-8827
  • CASELLI R, SPECIALE C, PESCUCCI C, ULIANA V, SAMPIERI K, BRUTTINI M, LONGO I, DE FRANCESCO S, PRAMPARO T, ZUFFARDI O, FREZZOTTI R, ACQUAVIVA A, HADJISTILIANOU T, RENIERI A., MARI F (2007). Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. JOURNAL OF HUMAN GENETICS, vol. 52(6); p. 535-542, ISSN: 1435-232X
  • CASELLI R, MENCARELLI MA, PAPA FT, ULIANA V, SCHIAVONE S, STRAMBI M, PESCUCCI C, ARIANI F, ROSSI V, LONGO I, MELONI I, RENIERI A., MARI F (2007). A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 50(4); p. 315-321, ISSN: 1769-7212
  • ZAPPELLA M, MARI F, RENIERI A. (2005). Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome. EUROPEAN JOURNAL OF PEDIATRICS, vol. 164 (11); p. 710, ISSN: 0340-6199
  • CASELLI R, PAPA F.T, ARIANI F, MELONI I, RENIERI A. (2007). X-linked mental retardation: a diagnostic, clinical and molecular update. In: D. RIVA, S. BULGHERONI, C. PANTALEONI. Mental Retardation. p. 79-91, MONTROUGE: John Libbey Eurotext
  • SCALA E, ARIANI F, MARI F, CASELLI R, PESCUCCI C, LONGO I, MELONI I, GIACHINO D, BRUTTINI M, HAYEK G, ZAPPELLA M, RENIERI A. (2005). CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. JOURNAL OF MEDICAL GENETICS, vol. 42 (2); p. 103-107, ISSN: 0022-2593
  • ARIANI F, HAYEK G, RONDINELLA D, ARTUSO R, MENCARELLI MA, SPANHOL-ROSSETO A, POLLAZZON M, BUONI S, SPIGA O, RICCIARDI S, MELONI I, LONGO I, MARI F, BROCCOLI V, ZAPPELLA M, RENIERI A. (2008). FOXG1 is responsible for the congenital variant of Rett syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, vol. 83(1); p. 89-93, ISSN: 0002-9297
  • SAMPIERI K, MELONI I, SCALA E, ARIANI F, CASELLI R, PESCUCCI C, LONGO I, ARTUSO R, BRUTTINI M, MENCARELLI MA, SPECIALE C, CAUSARANO V, HAYEK G, ZAPPELLA M, RENIERI A., MARI F (2007). Italian Rett database and biobank. HUMAN MUTATION, vol. 28 (4); p. 329-335, ISSN: 1059-7794
  • PESCUCCI C, CASELLI R, MARI F, SPECIALE C, ARIANI F, BRUTTINI M, SAMPIERI K, MENCARELLI MA, SCALA E, LONGO I, ARTUSO R, RENIERI A., MELONI I, XLMR ITALIAN NETWORK (2007). The Italian XLMR bank: a clinical and molecular database. HUMAN MUTATION, vol. 28 (1); p. 8-13, ISSN: 1059-7794
  • PESCUCCI C, CASELLI R, GROSSO S, MENCARELLI MA, MARI F, FARNETANI MA, PICCINI B, ARTUSO R, BRUTTINI M, PRIOLO M, ZUFFARDI O, GIMELLI S, BALESTRI P, RENIERI A. (2007). 2q24-q31 deletion: report of a case and review of the literature. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 50 (1); p. 21-32, ISSN: 1769-7212
  • CASELLI R, MENCARELLI MA, PAPA FT, ARIANI F, LONGO I, MELONI I, VONELLA G, ACAMPA M, AUTERI A, VICARI S, ORSI A, HAYEK G, RENIERI A., MARI F (2008). Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 146A(9); p. 1195-1199, ISSN: 1552-4825
  • BUGIANI M, GYFTODIMOU Y, TSIMPOUKA P, LAMANTEA E, KATZAKI E, D'ADAMO P, NAKOU S, GEORGOUDI N, GRIGORIADOU M, TSINA E, KABOLIS N, MILANI D, PANDELIA E, KOKOTAS H, GASPARINI P, GIANNOULIA-KARANTANA A, RENIERI A., ZEVIANI M, PETERSEN MB (2008). Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 146A(17); p. 2221-2226, ISSN: 1552-4825
  • CASTELLETTI F, DONADELLI R, BANTERLA F, HILDEBRANDT F, ZIPFEL PF, BRESIN E, OTTO E, SKERKA C, RENIERI A., TODESCHINI M, CAPRIOLI J, CARUSO RM, ARTUSO R, REMUZZI G, NORIS M (2008). Mutations in FN1 cause glomerulopathy with fibronectin deposits. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 105 (7); p. 2538-2543, ISSN: 0027-8424
  • GRECO D, ROMANO C, REITANO S, BARONE C, BENEDETTO DD, CASTIGLIA L, FICHERA M, GALESI O, ZINGALE M, BUONO S, ULIANA V, CASELLI R, CANITANO R, HAYEK G, RENIERI A. (2008). Three new patients with dup(17)(p11.2p11.2) without autism. CLINICAL GENETICS, vol. 73 (3); p. 294-296, ISSN: 0009-9163
  • GROSSO S, PUCCI L, CURATOLO P, COPPOLA G, BARTALINI G, DI BARTOLO R, SCARINCI R, RENIERI A., BALESTRI P (2008). Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations A review. EPILEPSY RESEARCH, ISSN: 0920-1211
  • MELONI I, PARRI V, DE FILIPPIS R, ARIANI F, ARTUSO R, BRUTTINI M, KATZAKI E, LONGO I, MARI F, BELLAN C, DOTTI CG, RENIERI A. (2008). The XLMR gene ACSL4 plays a role in dendritic spine architecture. NEUROSCIENCE, ISSN: 0306-4522
  • LONGO I, SCALA E, MARI F, CASELLI R, PESCUCCI C, MENCARELLI MA, SPECIALE C, GIANI M, BRESIN E, CARINGELLA DA, BOROCHOWITZ ZU, SIRIWARDENA K, WINSHIP I, RENIERI A., MELONI I (2006). Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 21 (3); p. 665-671, ISSN: 0931-0509
  • MARI F, GIACHINO D, RUSSO L, PILIA G, ARIANI F, SCALA E, CHIAPPE F, SAMPIERI K, CAPOROSSI A, RENIERI A., LASORELLA G (2006). Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. JOURNAL OF AAPOS, vol. 10 (3); p. 279-280, ISSN: 1091-8531
  • POLLAZZON M, SUOMINEN T, PENTTILÄ S, MALANDRINI A, CARLUCCIO MA, MONDELLI M, MAROZZA A, FEDERICO A, RENIERI A., HACKMAN P, DOTTI MT, UDD B (2009). The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
  • SAMPIERI K, AMENDUNI M, PAPA FT, KATZAKI E, MENCARELLI MA, MAROZZA A, EPISTOLATO MC, TOTI P, LAZZI S, BRUTTINI M, DE FILIPPIS R, DE FRANCESCO S, LONGO I, MELONI I, MARI F, ACQUAVIVA A, HADJISTILIANOU T, RENIERI A., ARIANI F (2009). Array comparative genomic hybridization in retinoma and retinoblastoma tissues. CANCER SCIENCE, vol. 100; p. 465-471, ISSN: 1347-9032
  • GROSSO S, BROGNA A, BAZZOTTI S, RENIERI A., MORGESE G, BALESTRI P (2007). Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. BRAIN & DEVELOPMENT, vol. 29 (4); p. 239-242, ISSN: 0387-7604
  • KATZAKI E, PESCUCCI C, ULIANA V, PAPA FT, ARIANI F, MELONI I, PRIOLO M, SELICORNI A, MILANI D, FISCHETTO R, CELLE ME, GRASSO R, DALLAPICCOLA B, BRANCATI F, BORDIGNON M, TENCONI R, FEDERICO A, MARI F, RENIERI A., LONGO I (2007). Clinical and molecular characterization of Italian patients affected by Cohen syndrome. JOURNAL OF HUMAN GENETICS, vol. 52 (12); p. 1007-1011, ISSN: 1435-232X
  • MENCARELLI MA, CASELLI R, PESCUCCI C, HAYEK G, ZAPPELLA M, RENIERI A., MARI F (2007). Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 143 (8); p. 858-865, ISSN: 1552-4825
  • MICHELI V, SESTINI S, PARRI V, FICHERA M, ROMANO C, ARIANI F, LONGO I, MARI F, BRUTTINI M, RENIERI A., MELONI I (2007). RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. CLINICA CHIMICA ACTA, vol. 384 (1-2); p. 35-40, ISSN: 0009-8981
  • VOGIATZI P, VINDIGNI C, ROVIELLO F, RENIERI A., GIORDANO A (2007). Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis. JOURNAL OF CELLULAR PHYSIOLOGY, vol. 211 (2); p. 287-295, ISSN: 0021-9541
  • ARIANI F, LONGO I, FREZZOTTI P, PESCUCCI C, MARI F, CAPOROSSI A, FREZZOTTI R, RENIERI A. (2006). Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma. GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, vol. 244 (9); p. 1077-1082, ISSN: 0721-832X
  • SQUILLARO T, HAYEK G, FARINA E, CIPOLLARO M, RENIERI A., GALDERISI U (2007). A case report: Bone marrow mesenchymal stem cells from a rett syndrome patient are prone to senescence and show a lower degree of apoptosis. JOURNAL OF CELLULAR BIOCHEMISTRY, vol. Epub ahead of print, ISSN: 0730-2312
  • RENIERI A., PESCUCCI C, LONGO I, ARIANI F, MARI F, MELONI I (2005). Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. JOURNAL OF CELLULAR PHYSIOLOGY, vol. 204 (1); p. 8-20, ISSN: 0021-9541
  • PESCUCCI C, MELONI I, RENIERI A. (2005). Is Rett syndrome a loss-of-imprinting disorder?. NATURE GENETICS, vol. 37 (1); p. 31-40, ISSN: 1061-4036
  • POLLAZZON M, GROSSO S, PAPA FT, KATZAKI E, MAROZZA A, MENCARELLI MA, ULIANA V, BALESTRI P, MARI F, RENIERI A. (2009). A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 52; p. 131-133, ISSN: 1769-7212
  • ARNOLDI A, TONELLI A, CRIPPA F, VILLANI G, PACELLI C, SIRONI M, POZZOLI U, D'ANGELO MG, MEOLA G, MARTINUZZI A, CRIMELLA C, REDAELLI F, PANZERI C, RENIERI A., COMI GP, TURCONI AC, BRESOLIN N, BASSI MT (2008). A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. HUMAN MUTATION, ISSN: 1059-7794
  • FRASCA GM, ONETTI-MUDA A, MARI F, LONGO I, SCALA E, PESCUCCI C, ROCCATELLO D, ALPA M, COPPO R, LI VOLTI G, FERIOZZI S, BERGESIO F, SCHENA FP, RENIERI A., ITALIAN RENAL IMMUNOPATHOLOGY GROUP. (2005). Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis - A collaborative study of the Italian Renal Immunopathology Group. NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 20 (3); p. 545-551, ISSN: 0931-0509
  • MARI F, AZIMONTI S, BERTANI I, BOLOGNESE F, COLOMBO E, CASELLI R, SCALA E, LONGO I, GROSSO S, PESCUCCI C, ARIANI F, HAYEK G, BALESTRI P, BERGO A, BADARACCO G, ZAPPELLA M, BROCCOLI V, RENIERI A., KILSTRUP-NIELSEN C, LANDSBERGER N. (2005). CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early seizure variant of Rett sindrome. HUMAN MOLECULAR GENETICS, vol. 14 (14); p. 1935-1946, ISSN: 0964-6906
  • MARI F, CASELLI R, RUSSO S, COGLIATI F, ARIANI F, LONGO I, BRUTTINI M, MELONI I, PESCUCCI C, SCHURFELD K, TOTI P, TASSINI M, LARIZZA L, HAYEK G, ZAPPELLA M, RENIERI A. (2005). Germline mosaicism in Rett syndrome identified by prenatal diagnosis. CLINICAL GENETICS, vol. 67 (3); p. 258-260, ISSN: 0009-9163
  • PESCUCCI C, LONGO I, MARI F, SCALA E, BRUTTINI M, CASELLI R, RENIERI A. (2005). Clinical and genetic features of the Alport 'syndromes'. GIORNALE ITALIANO DI NEFROLOGIA, vol. 22 (5); p. 466-476, ISSN: 0393-5590
  • SAMPIERI K, HADJISTILIANOU T, MARI F, SPECIALE C, MENCARELLI MA, CETTA F, MANOUKIAN S, PEISSEL B, GIACHINO D, PASINI B, ACQUAVIVA A, CAPOROSSI A, FREZZOTTI R, RENIERI A., BRUTTINI M (2006). Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. JOURNAL OF HUMAN GENETICS, vol. 51 (3); p. 209-216, ISSN: 1435-232X
  • BUCALOSSI A, TORALDO F, TOZZI M, LENOCI M, CASTAGNINI C, ARTUSO R, RENIERI A., MAROTTA G (2010). Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION, ISSN: 1083-8791
  • BUONI S, ZANNOLLI R, FELICE CD, NICOLA AD, GUERRI V, GUERRA B, CASALI S, PUCCI B, CORBINI L, MARI F, RENIERI A., ZAPPELLA M, HAYEK J (2010). EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome. CLINICAL NEUROPHYSIOLOGY, ISSN: 1388-2457
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