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Ilaria Meloni

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Laura Dosa; Ilaria Di Donato; Uros Hladnik; Alessandro Malandrini; Francesca Mari; Ilaria Meloni; Antonio Federico
Huntington's disease gene expansion associates with early onset nonprogressive chorea.
Francesca Ariani; Rosangela Artuso; Raimondo della Volpe; C Di Marco; Francesca Mari; Ilaria Meloni; Alessandro Rossi; Elisa Scala; H van Bokhoven; S Amitrano; Alessandra Renieri
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Elisa Grillo; Joseph Hayek; Silvia Leoncini; Caterina Lo Rizzo; Francesca Mari; Ilaria Meloni; Maria Antonietta Mencarelli; Alessandra Pecorelli; Francesca Ariani; Margherita Baldassarri; L Bianciardi; Veronica Bizzarri; Lucia Ciccoli; Claudio De Felice; Simone Furini; Cinzia Signorini; ottavia spiga; Alessandra Renieri
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

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All Publications

2013: Laura Dosa; Ilaria Di Donato; Uros Hladnik; Alessandro Malandrini; Francesca Mari; Ilaria Meloni; Antonio Federico
Huntington's disease gene expansion associates with early onset nonprogressive chorea.
Movement disorders : official journal of the Movement Disorder Society 2013;28(5):684.
2013: Francesca Ariani; Rosangela Artuso; Raimondo della Volpe; C Di Marco; Francesca Mari; Ilaria Meloni; Alessandro Rossi; Elisa Scala; H van Bokhoven; S Amitrano; Alessandra Renieri
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Clinical genetics 2013;83(3):288-90.
2013: Elisa Grillo; Joseph Hayek; Silvia Leoncini; Caterina Lo Rizzo; Francesca Mari; Ilaria Meloni; Maria Antonietta Mencarelli; Alessandra Pecorelli; Francesca Ariani; Margherita Baldassarri; L Bianciardi; Veronica Bizzarri; Lucia Ciccoli; Claudio De Felice; Simone Furini; Cinzia Signorini; ottavia spiga; Alessandra Renieri
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
PloS one 2013;8(2):e56599.
2012: R De Filippis; E Grillo; Joseph Hayek; Tjitske Kleefstra; Francesca Ariani; K Bjørgo; F Cardarelli; M Costa; Ilaria Meloni; Maria Antonietta Mencarelli; L Pancrazi; A Panighini; Alessandra Renieri; A Rosseto; Francesca Mari
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
Clinical genetics 2012;82(4):395-403.
2011: Mariangela Amenduni; Francesca Ariani; Aaron Y L Cheung; Roberta De Filippis; Vittoria Disciglio; James Ellis; Maria Carmela Epistolato; Youssef Hayek; Francesca Mari; Maria Antonietta Mencarelli; Alessandra Renieri; Ilaria Meloni
iPS cells to model CDKL5-related disorders.
European journal of human genetics : EJHG 2011;19(12):1246-55.
2011: Vera Uliana; Elena Marcocci; Mafalda Mucciolo; Ilaria Meloni; Claudia Izzi; Carlo Manno; Mirella Bruttini; Francesca Mari; Francesco Scolari; Alessandra Renieri; Leonardo Salviati
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
Pediatric nephrology (Berlin, Germany) 2011;26(5):717-24.
2009: Ilaria Meloni; V Parri; R De Filippis; Francesca Ariani; Rosangela Artuso; Mirella Bruttini; E Katzaki; Ilaria Longo; Francesca Mari; C Bellan; Carlos G Dotti; Alessandra Renieri
The XLMR gene ACSL4 plays a role in dendritic spine architecture.
Neuroscience 2009;159(2):657-69.
2009: Maria Antonietta Mencarelli; Tjitske Kleefstra; Eleni Katzaki; Filomena Tiziana Papa; Monika Cohen; Rolph Pfundt; Francesca Ariani; Ilaria Meloni; Francesca Mari; Alessandra Renieri
14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
European journal of medical genetics 2009;52(2-3):148-52.
2009: Katia Sampieri; Mariangela Amenduni; Filomena Tiziana Papa; Eleni Katzaki; Maria Antonietta Mencarelli; Annabella Marozza; Maria Carmela Epistolato; Paolo Toti; Stefano Lazzi; Mirella Bruttini; Roberta De Filippis; Sonia De Francesco; Ilaria Longo; Ilaria Meloni; Francesca Mari; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Ariani
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
Cancer science 2009;100(3):465-71.
2009: Alessandra Renieri; Francesca Mari; Maria Antonietta Mencarelli; Elisa Scala; Francesca Ariani; Ilaria Longo; Ilaria Meloni; Gabriele Cevenini; G Pini; Giuseppe Hayek; Michele Zappella
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
Brain & development 2009;31(3):208-16.
2008: Maria Antonietta Mencarelli; Eleni Katzaki; Filomena Tiziana Papa; Katia Sampieri; Richard Caselli; Vera Uliana; Marzia Pollazzon; Roberto Canitano; Rosa Mostardini; Grosso Salvatore; Ilaria Longo; Francesca Ariani; Ilaria Meloni; Josef Hayek; Paolo Balestri; Francesca Mari; Alessandra Renieri
Private inherited microdeletion/microduplications: implications in clinical practice.
European journal of medical genetics 2008;51(5):409-16.
2008: Filomena Tiziana Papa; Maria Antonietta Mencarelli; Richard Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Grosso Salvatore; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
American journal of medical genetics. Part A 2008;146A(15):1994-8.
2008: Francesca Ariani; Giuseppe Hayek; Dalila Rondinella; Rosangela Artuso; Maria Antonietta Mencarelli; Ariele Spanhol-Rosseto; Marzia Pollazzon; Sabrina Buoni; ottavia spiga; Sara Ricciardi; Ilaria Meloni; Ilaria Longo; Francesca Mari; Vania Broccoli; Michele Zappella; Alessandra Renieri
FOXG1 is responsible for the congenital variant of Rett syndrome.
American journal of human genetics 2008;83(1):89-93.
2008: Richard Caselli; Maria Antonietta Mencarelli; Filomena Tiziana Papa; Francesca Ariani; Ilaria Longo; Ilaria Meloni; Giuseppina Vonella; Maurizio Acampa; Alberto Auteri; Stefano Vicari; Alessandra Orsi; Giuseppe Hayek; Alessandra Renieri; Francesca Mari
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 2008;146A(9):1195-9.
2008: Katia Sampieri; Maria Antonietta Mencarelli; Maria Carmela Epistolato; Paolo Toti; Stefano Lazzi; Mirella Bruttini; Sonia De Francesco; Ilaria Longo; Ilaria Meloni; Francesca Mari; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Ariani
Genomic differences between retinoma and retinoblastoma.
Acta oncologica (Stockholm, Sweden) 2008;47(8):1483-92.
2008: Vera Uliana; Nicola Giordano; Richard Caselli; Filomena Tiziana Papa; Francesca Ariani; Claudio Marcocci; Elena Gianetti; Giuseppe Martini; Panayotis Papakostas; Fabio Rollo; Ilaria Meloni; Francesca Mari; Manuela Priolo; Alessandra Renieri; Ranuccio Nuti
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.
Clinical dysmorphology 2008;17(1):13-7.
2007: Vanna Micheli; Silvia Sestini; Veronica Parri; Marco Fichera; Corrado Romano; Francesca Ariani; Ilaria Longo; Francesca Mari; Mirella Bruttini; Alessandra Renieri; Ilaria Meloni
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.
Clinica chimica acta; international journal of clinical chemistry 2007;384(1-2):35-40.
2007: Richard Caselli; Maria Antonietta Mencarelli; F T Papa; Vera Uliana; S Schiavone; Mirella Strambi; Chiara Pescucci; Francesca Ariani; V Rossi; Ilaria Longo; Ilaria Meloni; Alessandra Renieri; Francesca Mari
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 2007;50(4):315-21.
2007: Katia Sampieri; Ilaria Meloni; Elisa Scala; Francesca Ariani; Richard Caselli; Chiara Pescucci; Ilaria Longo; Rosangela Artuso; Mirella Bruttini; Maria Antonietta Mencarelli; Caterina Speciale; Vincenza Causarano; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Francesca Mari
Italian Rett database and biobank.
Human mutation 2007;28(4):329-35.
2007: Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Journal of human genetics 2007;52(12):1011-7.
2007: Chiara Pescucci; Richard Caselli; Francesca Mari; Caterina Speciale; Francesca Ariani; Mirella Bruttini; Katia Sampieri; Maria Antonietta Mencarelli; Elisa Scala; Ilaria Longo; Rosangela Artuso; Alessandra Renieri; Ilaria Meloni
The Italian XLMR bank: a clinical and molecular database.
Human mutation 2007;28(1):13-8.
2006: Ilaria Longo; Elisa Scala; Francesca Mari; Richard Caselli; Chiara Pescucci; Maria Antonietta Mencarelli; Caterina Speciale; Mauro Giani; Elena Bresin; Domenica Angela Caringella; Zvi-Uri Borochowitz; Komudi Siriwardena; Ingrid Winship; Alessandra Renieri; Ilaria Meloni
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(3):665-71.
2005: Alessandra Renieri; Chiara Pescucci; Ilaria Longo; Francesca Ariani; Francesca Mari; Ilaria Meloni
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
Journal of cellular physiology 2005;204(1):8-20.
2005: Francesca Mari; Richard Caselli; Silvia Russo; Francesca Cogliati; Francesca Ariani; Ilaria Longo; Mirella Bruttini; Ilaria Meloni; Chiara Pescucci; K Schurfeld; P Toti; Maria Tassini; Lidia Larizza; Giuseppe Hayek; Michele Zappella; Alessandra Renieri
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
Clinical genetics 2005;67(3):258-60.
2005: Elisa Scala; Francesca Ariani; Francesca Mari; Richard Caselli; Chiara Pescucci; Ilaria Longo; Ilaria Meloni; Daniela Giachino; Mirella Bruttini; Giuseppe Hayek; Michele Zappella; Alessandra Renieri
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Journal of medical genetics 2005;42(2):103-7.
2005: Chiara Pescucci; Ilaria Meloni; Alessandra Renieri
Is Rett syndrome a loss-of-imprinting disorder?
Nature genetics 2005;37(1):10-1.
2004: Carla Battisti; Patrizia Formichi; Sergio Antonio Tripodi; Ilaria Meloni; Paola Mangiavacchi; Michele Zappella; Antonio Federico
Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis.
Brain & development 2004;26(6):384-8.
2004: Francesca Ariani; Francesca Mari; Chiara Pescucci; Ilaria Longo; Mirella Bruttini; Ilaria Meloni; Giuseppe Hayek; Raffaele Rocchi; Michele Zappella; Alessandra Renieri
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
Human mutation 2004;24(2):172-7.
2004: Ilaria Longo; Luisa Russo; Ilaria Meloni; Iolanda Ricci; Francesca Ariani; Chiara Pescucci; Carmela Tiziana Giordano; Roberto Canitano; Giuseppe Hayek; Michele Zappella; Giovanni Neri; Alessandra Renieri; Fiorella Gurrieri
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
European journal of human genetics : EJHG 2004;12(8):682-5.
2003: Chiara Pescucci; Ilaria Meloni; Mirella Bruttini; Francesca Ariani; Ilaria Longo; Francesca Mari; Roberto Canitano; Giuseppe Hayek; Michele Zappella; Alessandra Renieri
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
Clinical genetics 2003;64(6):497-501.
2003: Silvia Palmeri; Francesca Mari; Ilaria Meloni; Alessandro Malandrini; Francesca Ariani; M Villanova; A Pompilio; Ulrike Schwarze; Peter H Byers; Alessandra Renieri
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
Clinical genetics 2003;63(6):510-5.
2003: Alessandra Renieri; Ilaria Meloni; Ilaria Longo; Francesca Ariani; Francesca Mari; Chiara Pescucci; Franca Cambi
Rett syndrome: the complex nature of a monogenic disease.
Journal of molecular medicine (Berlin, Germany) 2003;81(6):346-54.
2003: Michele Zappella; Ilaria Meloni; Ilaria Longo; Roberto Canitano; Giuseppe Hayek; Lucia Rosaia; Francesca Mari; Alessandra Renieri
Study of MECP2 gene in Rett syndrome variants and autistic girls.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;119B(1):102-7.
2003: Nicola Giordano; L Gennari; Mirella Bruttini; Francesca Mari; Ilaria Meloni; C Baldi; S Capoccia; Stephen A Geraci; Daniela Merlotti; A Amendola; G Martini; R Nuti; C Gennari; Alessandra Renieri
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
Journal of medical genetics 2003;40(2):132-5.
2003: Ilaria Longo; Suzanna G M Frints; Jean-Pierre Fryns; Ilaria Meloni; Chiara Pescucci; Francesca Ariani; Martine Borghgraef; Martine Raynaud; Peter Marynen; C Schwartz; Alessandra Renieri; Guy Froyen
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
Journal of medical genetics 2003;40(1):11-7.
2002: Salvatore Li Volti; Teresio Avitabile; Giovanni Li Volti; Ilaria Meloni; Paola Forabosco; Filippo Marano; Sebastiano Bianca; Alessandra Renieri
Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(9):771-6.
2002: Ilaria Longo; Paola Porcedda; Francesca Mari; Daniela Giachino; Ilaria Meloni; Carla Deplano; Alfredo Brusco; Maurizio Bosio; Laura Massella; Giancarlo Lavoratti; Dario Roccatello; Giovanni Frascá; Gianna Mazzucco; Andrea Onetti Muda; Maura Conti; Federica Fasciolo; Christelle Arrondel; Laurence Heidet; Alessandra Renieri; Mario De Marchi
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Kidney international 2002;61(6):1947-56.
2002: Ilaria Meloni; F Vitelli; L Pucci; R B Lowry; R Tonlorenzi; E Rossi; M Ventura; G Rizzoni; C E Kashtan; Barbara R Pober; Alessandra Renieri
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).
Journal of medical genetics 2002;39(5):359-65.
2002: Ilaria Meloni; Michela Muscettola; Martine Raynaud; Ilaria Longo; Mirella Bruttini; Marie-Pierre Moizard; Marie Gomot; Jamel Chelly; Vincent des Portes; Jean-Pierre Fryns; Hans-Hilger Ropers; Barbara Magi; Cristina Bellan; Nila Volpi; Helger G Yntema; Sarah E Lewis; Jean E Schaffer; Alessandra Renieri
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics 2002;30(4):436-40.
2002: Marco Seri; Maria Savino; Domenico Bordo; Roberto Cusano; Bianca Rocca; Ilaria Meloni; Filomena Di Bari; Pasi A Koivisto; Martino Bolognesi; Gian Marco Ghiggeri; Raffaele Landolfi; Carlo L Balduini; Leopoldo Zelante; Roberto Ravazzolo; Alessandra Renieri; Anna Savoia
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
Human genetics 2002;110(2):182-6.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Floriana Della Ragione; Maria Luigia De Bonis; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj Hulten
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Brain & development 2001;23 Suppl 1():S246-50.
2001: Michele Zappella; Ilaria Meloni; Ilaria Longo; Giuseppe Hayek; Alessandra Renieri
Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
American journal of medical genetics 2001;104(1):14-22.
2001: Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa Pianigiani; Roberto Cusano; Marco Seri; Sergio Mondillo; Antonio Federico; A M Bardelli; Lucio Andreassi; Michele Fimiani; Alessandra Renieri
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
Human mutation 2001;18(1):85.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj A Hultén
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Journal of molecular medicine (Berlin, Germany) 2001;78(11):648-55.
2000: Ilaria Meloni; Mirella Bruttini; Ilaria Longo; Francesca Mari; Flavio Rizzolio; Patrizia D'Adamo; K Denvriendt; Jean-Pierre Fryns; Daniela Toniolo; Alessandra Renieri
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
American journal of human genetics 2000;67(4):982-5.
2000: Mirella Bruttini; F Vitelli; Ilaria Meloni; G Rizzari; M D Volpe; Gianna Mazzucco; M D Marchi; Alessandra Renieri
Mosaicism in Alport syndrome with genetic counselling.
Journal of medical genetics 2000;37(9):717-9.
2000: C De Bona; Michele Zappella; Giuseppe Hayek; Ilaria Meloni; F Vitelli; Mirella Bruttini; Roberto Cusano; P Loffredo; Ilaria Longo; Alessandra Renieri
Preserved speech variant is allelic of classic Rett syndrome.
European journal of human genetics : EJHG 2000;8(5):325-30.
2000: F Vitelli; Ilaria Meloni; S Fineschi; F Favara; C Tiziana Storlazzi; M Rocchi; Alessandra Renieri
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.
Cytogenetics and cell genetics 2000;88(3-4):259-63.