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Alessandra Renieri

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Laura Massella; Andrea Onetti Muda; Alessandra Renieri; Antonella Crisafi; Chiara Fallerini; Tullio Faraggiana; Concetta Gangemi; Konstantinos Giannakakis; francesco emma
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome.
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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2013: Laura Massella; Andrea Onetti Muda; Alessandra Renieri; Antonella Crisafi; Chiara Fallerini; Tullio Faraggiana; Concetta Gangemi; Konstantinos Giannakakis; francesco emma
Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2013;8(5):749-55.
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.
2012: Sonia De Francesco; Alessandra Del Longo; Paolo Galluzzi; Theodora Hadjistilianou; Francesca Mari; Cristina Menicacci; Francis Munier; Elena Piozzi; Alessandra Renieri; Domenico Mastrangelo
13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.
European journal of ophthalmology 2012;22(5):857-60.
2012: C Halgren; C Hansen; K F Henriksen; H Hjalgrim; B Isidor; Maria Kirchhoff; S Kjaergaard; Cédric Le Caignec; Francesca Mari; M Mucciolo; M Nielsen; Alessandra Renieri; Claudia Ruivenkamp; Niels Tommerup; R Zannolli; B-M Anderlid; C M Anderson; J Andrieux; Mads Bak; Emilia K Bijlsma; Nicolette S den Hollander; A Dieux; Z El-Schich; Iben Bache
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Clinical genetics 2012;82(3):248-55.
2012: Nagaja Capitani; Andrea Matucci; A Pezzicoli; Alessandra Renieri; A Troilo; Alessandra Vultaggio; Amedeo Amedei; Francesca Ariani; Cosima T Baldari; M M D' Elios
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function.
International journal of immunopathology and pharmacology 2012;25(3):811-7.
2012: Elisa Grillo; Anna Hryniewiecka-Jaworska; Francesca Mari; Vlatka Mejaški Bošnjak; Béla Melegh; Mercedes Pineda; Giorgio Pini; Maria Pintaudi; Noémi Polgár; Kirstine Ravn; Judith Armstrong; Nadia Bahi-Buisson; Bruria Ben-Zeev; Thierry Bienvenu; Anne-Marie Bisgaard; Angus Clarke; Francesca Cogliati; Dana Craiu; Aleksandra Djukic; Milena Djuric; Silvia Russo; Edvige Veneselli; Aglaia Vignoli; Laurent Villard; Ana Roche-Martinez; Alessandra Renieri
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Human mutation 2012;33(7):1031-6.
2012: Gabriella Livide; Annabella Marozza; Maria Antonietta Mencarelli; Alessandra Renieri; Paolo Toti; Alfonso D'Ambrosio; Sonia De Francesco; Vittoria Disciglio; Maria Carmela Epistolato; Theodora Hadjistilianou; Stefano Lazzi; Mariangela Amenduni; Francesca Ariani
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
Pathology oncology research : POR 2012;18(3):703-12.
2012: Emilia K Bijlsma; M P Botella; A J Broekma; Roberto Canitano; C Castagnini; A Collins; J A Crolla; V Disciglio; L Dosa; M I Ferreri; B Gener; A C J Gijsbers; G Hayek; E Katzaki; Marjolein Kriek; Monique Losekoot; Francesca Mari; A Marozza; Maria Antonietta Mencarelli; M Mínguez; M Mucciolo; F T Papa; E A J Peeters; M Pollazzon; Alessandra Renieri; M I Tejada; J M van de Kamp; P Wheeler; Francesca Ariani; Claudia Ruivenkamp
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
European journal of medical genetics 2012;55(6-7):404-13.
2012: Giorgio Pini; Maria Pintaudi; Alessandra Renieri; Anna Romanelli; Maria Flora Scusa; Paola Visconti; Michele Zappella; Francesca Ariani; Roberta Battini; Alberto Benincasa; Fabrizio Bianchi; Stefania Bigoni; Ubaldo Bonuccelli; Paolo Borelli; O Calabrese; Manuela Casarano; Giovanni Cioni; RS Delamont; Pietro Di Marco; Veneselli Edvige; Ingegerd Witt Engerström; Beatrice Felloni; Giuseppe Gobbi; Stig Hansen; Peter O O Julu; Bodil Morin; Jytte Bieber Nielsen
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Neuropediatrics 2012;43(1):37-43.
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: Maria Antonietta Mencarelli; Lucia Monti; Marzia Pollazzon; Sabrina Buoni; Marco Calderisi; Udo Engelke; Michele Falco; Marco Fichera; Joseph Hayek; Francesca Mari; Maria Tassini; Antonio Vivi; Ron A Wevers; Alessandra Renieri
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
American journal of medical genetics. Part A 2011;155A(10):2446-52.
2011: Maria Carmela Epistolato; Theodora Hadjistilianou; Gabriella Livide; Annabella Marozza; Maria Antonietta Mencarelli; Alessandra Renieri; Paolo Toti; Antonio Acquaviva; Mariangela Amenduni; Francesca Ariani; Paola Berchialla; Francesco Cetta; Sonia De Francesco; Mario De Marchi; Vittoria Disciglio; Daniela Giachino
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Journal of human genetics 2011;56(9):685-6.
2011: Rosangela Artuso; Vittoria Disciglio; Keith W Dunaway; Elisa Grillo; Giuseppe Hayek; Janine M LaSalle; Francesca Mari; Maria Antonietta Mencarelli; Mafalda Mucciolo; Filomena T Papa; Marzia Pollazzon; Alessandra Renieri; Dag H Yasui; Michele Zappella; Francesca Ariani
Investigation of modifier genes within copy number variations in Rett syndrome.
Journal of human genetics 2011;56(7):508-15.
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.
2011: Paolo Frezzotti; Chiara Pescucci; Filomena Tiziana Papa; Michele Iester; Vincenzo Mittica; Ilaria Motolese; Sabrina Peruzzi; Rosangela Artuso; Ilaria Longo; Maria Antonietta Mencarelli; Pietro Mittica; Edoardo Motolese; Alessandra Renieri
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
The British journal of ophthalmology 2011;95(5):624-6.
2010: Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Rett syndrome: revised diagnostic criteria and nomenclature.
Annals of neurology 2010;68(6):944-50.
2010: Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
European journal of human genetics : EJHG 2010;18(10):1133-40.
2010: Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; Nicole Philip
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.
American journal of medical genetics. Part A 2010;152A(7):1711-7.
2010: Vera Uliana; Grosso Salvatore; Maddalena Cioni; Francesca Ariani; Filomena T Papa; Silvia Tamburello; Elisa Rossi; Eleni Katzaki; Mafalda Mucciolo; Annabella Marozza; Marzia Pollazzon; Maria Antonietta Mencarelli; Francesca Mari; Paolo Balestri; Alessandra Renieri
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.
European journal of medical genetics 2010;53(3):168-70.
2010: Carmen Gaudiano; Alessandro Malandrini; Marzia Pollazzon; Stefania Murru; Francesca Mari; Alessandra Renieri; Antonio Federico
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.
Brain & development 2010;32(5):421-4.
2010: Marzia Pollazzon; Tiina Suominen; Sini Penttilä; Alessandro Malandrini; Maria Alessandra Carluccio; Mauro Mondelli; Annabella Marozza; Antonio Federico; Alessandra Renieri; Peter Hackman; Maria Teresa Dotti; Bjarne Udd
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
Journal of neurology 2010;257(4):575-9.
2010: Maria Antonietta Mencarelli; A Spanhol-Rosseto; Rosangela Artuso; D Rondinella; R De Filippis; N Bahi-Buisson; J Nectoux; R Rubinsztajn; T Bienvenu; A Moncla; B Chabrol; L Villard; Z Krumina; J Armstrong; A Roche; M Pineda; E Gak; Francesca Mari; Francesca Ariani; Alessandra Renieri
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Journal of medical genetics 2010;47(1):49-53.
2010: Rosangela Artuso; Maria Antonietta Mencarelli; R Polli; Stefano Sartori; Francesca Ariani; M Pollazzon; A Marozza; M R Cilio; N Specchio; F Vigevano; M Vecchi; C Boniver; B Dalla Bernardina; A Parmeggiani; Sabrina Buoni; Giuseppe Hayek; Francesca Mari; Alessandra Renieri; A Murgia
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Brain & development 2010;32(1):17-24.
2009: Elena Marcocci; Vera Uliana; Mirella Bruttini; Rosangela Artuso; Margherita Cirillo Silengo; Marlenka Zerial; Franco Bergesio; Antonio Amoroso; SILVANA SAVOLDI; Marco Pennesi; Daniela Giachino; Giuseppe Rombolà; Giovanni Battista Fogazzi; Cristina Rosatelli; Ciro Dresch Martinhago; Mario Carmellini; Roberta Mancini; Giuseppina Di Costanzo; Ilaria Longo; Alessandra Renieri; Francesca Mari
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(5):1464-71.
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: M Pollazzon; Grosso Salvatore; F T Papa; E Katzaki; A Marozza; Maria Antonietta Mencarelli; Vera Uliana; Paolo Balestri; Francesca Mari; Alessandra Renieri
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 2009;52(2-3):131-3.
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: Marianna Bugiani; Yolanda Gyftodimou; Paraskevi Tsimpouka; Eleonora Lamantea; Eleni Katzaki; Pio d'Adamo; Sheena Nakou; Nelli Georgoudi; Maria Grigoriadou; Efthymia Tsina; Nikolaos Kabolis; Donatella Milani; Efthimia Pandelia; Haris Kokotas; Paolo Gasparini; Aglaia Giannoulia-Karantana; Alessandra Renieri; Massimo Zeviani; Michael B Petersen
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
American journal of medical genetics. Part A 2008;146A(17):2221-6.
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: Tiziana Squillaro; Giuseppe Hayek; Ernesto Farina; marilena cipollaro; Alessandra Renieri; Umberto Galderisi
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 2008;103(6):1877-85.
2008: Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consiglia Pacelli; Manuela Sironi; Uberto Pozzoli; Maria Grazia D'Angelo; Giovanni Meola; Andrea Martinuzzi; Claudia Crimella; Francesca Redaelli; Chris Panzeri; Alessandra Renieri; Giacomo P Comi; Anna Carla Turconi; Nereo Bresolin; Maria Teresa Bassi
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Human mutation 2008;29(4):522-31.
2008: Grosso Salvatore; Lucia Pucci; Paolo Curatolo; Giangennaro Coppola; Gabriella Bartalini; Rosanna Maria Di Bartolo; Renato Scarinci; Alessandra Renieri; Paolo Balestri
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.
Epilepsy research 2008;79(1):63-70.
2008: D Greco; Corrado Romano; S Reitano; C Barone; D D Benedetto; Lucia Castiglia; Marco Fichera; Ornella Galesi; M Zingale; Serafino Buono; Vera Uliana; Richard Caselli; Roberto Canitano; Giuseppe Hayek; Alessandra Renieri
Three new patients with dup(17)(p11.2p11.2) without autism.
Clinical genetics 2008;73(3):294-6.
2008: Federica Castelletti; Roberta Donadelli; Federica Banterla; Friedhelm Hildebrandt; Peter F Zipfel; Elena Bresin; Edgar Otto; Christine Skerka; Alessandra Renieri; Marta Todeschini; Jessica Caprioli; Rosa Maria Caruso; Rosangela Artuso; Giuseppe Remuzzi; Marina Noris
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(7):2538-43.
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: Elisa Scala; Ilaria Longo; Federica Ottimo; Caterina Speciale; Katia Sampieri; Eleni Katzaki; Rosangela Artuso; Maria Antonietta Mencarelli; Tatiana D'Ambrogio; Giuseppina Vonella; Michele Zappella; Giuseppe Hayek; Agatino Battaglia; Francesca Mari; Alessandra Renieri; Francesca Ariani
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
American journal of medical genetics. Part A 2007;143A(23):2775-84.
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: Paraskevi Vogiatzi; Carla Vindigni; Franco Roviello; Alessandra Renieri; Antonio Giordano
Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis.
Journal of cellular physiology 2007;211(2):287-95.
2007: Grosso Salvatore; A Brogna; Simone Bazzotti; Alessandra Renieri; Guido Morgese; Paolo Balestri
Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.
Brain & development 2007;29(4):239-42.
2007: Maria Antonietta Mencarelli; Richard Caselli; Chiara Pescucci; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Francesca Mari
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 2007;143A(8):858-65.
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: Richard Caselli; Caterina Speciale; Chiara Pescucci; Vera Uliana; Katia Sampieri; Mirella Bruttini; Ilaria Longo; Sonia De Francesco; Tiziano Pramparo; Orsetta Zuffardi; Renato Frezzotti; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Mari
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Journal of human genetics 2007;52(6):535-42.
2007: Tiziana Squillaro; Franca Cambi; Giuseppe Ciacci; Simone Rossi; Monica Ulivelli; Alessandro Malandrini; Maria Antonietta Mencarelli; Francesca Mari; Alessandra Renieri; Francesca Ariani
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.
Journal of human genetics 2007;52(3):201-4.
2007: Chiara Pescucci; Richard Caselli; Grosso Salvatore; Maria Antonietta Mencarelli; Francesca Mari; Maria Angela Farnetani; B Piccini; Rosangela Artuso; Mirella Bruttini; Manuela Priolo; Orsetta Zuffardi; stefania gimelli; Paolo Balestri; Alessandra Renieri
2q24-q31 deletion: report of a case and review of the literature.
European journal of medical genetics 2007;50(1):21-32.
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: Francesca Ariani; Ilaria Longo; Paolo Frezzotti; Chiara Pescucci; Francesca Mari; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2006;244(9):1077-82.
2006: Francesca Mari; Daniela Giachino; Luisa Russo; Giuseppe Pilia; Francesca Ariani; Elisa Scala; Francesca Chiappe; Katia Sampieri; Aldo Caporossi; Alessandra Renieri; Giacomo Lasorella
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2006;10(3):279-80.
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.
2006: Katia Sampieri; Theodora Hadjistilianou; Francesca Mari; Caterina Speciale; Maria Antonietta Mencarelli; Francesco Cetta; Siranoush Manoukian; Bernard Peissel; Daniela Giachino; Barbara Pasini; Antonio Acquaviva; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri; Mirella Bruttini
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
Journal of human genetics 2006;51(3):209-16.
2005: Michele Zappella; Francesca Mari; Alessandra Renieri
Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.
European journal of pediatrics 2005;164(11):710; author reply 711-2.
2005: Chiara Pescucci; Ilaria Longo; Francesca Mari; Elisa Scala; Mirella Bruttini; Richard Caselli; Alessandra Renieri
[Clinical and genetic features of the Alport 'syndromes'].
Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia 2005;22(5):466-76.
2005: Francesca Mari; Sara Azimonti; Ilaria Bertani; Fabrizio Bolognese; Elena Colombo; Richard Caselli; Elisa Scala; Ilaria Longo; Grosso Salvatore; Chiara Pescucci; Francesca Ariani; Giuseppe Hayek; Paolo Balestri; Anna Bergo; Gianfranco Badaracco; Michele Zappella; Vania Broccoli; Alessandra Renieri; Charlotte Kilstrup-Nielsen; Nicoletta Landsberger
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Human molecular genetics 2005;14(14):1935-46.
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: Giovanni M Frascà; Andrea Onetti Muda; Francesca Mari; Ilaria Longo; Elisa Scala; Chiara Pescucci; Dario Roccatello; Mirella Alpa; Rosanna Coppo; Giovanni Li Volti; Sandro Feriozzi; Franco Bergesio; Francesco Paolo Schena; Alessandra Renieri
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(3):545-51.
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: Maria Savino; Maria D'Apolito; Vincenza Formica; Filomena Baorda; Francesca Mari; Alessandra Renieri; Enrico Carabba; Enrico Tarantino; Elena Andreucci; Serena Belli; Lorenzo Lo Muzio; Bruno Dallapiccola; Leopoldo Zelante; Anna Savoia
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Human mutation 2004;24(5):441.
2004: Douglas G Mashek; Karin E Bornfeldt; Rosalind A Coleman; Johannes Berger; David A Bernlohr; Paul Black; Concetta C DiRusso; Steven A Farber; Wen Guo; Naohiro Hashimoto; Varsha K Khodiyar; Frans A Kuypers; Lois J Maltais; Daniel W Nebert; Alessandra Renieri; Jean E Schaffer; Andreas Stahl; Paul A Watkins; Vasilis Vasiliou; Tokuo T Yamamoto
Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family.
Journal of lipid research 2004;45(10):1958-61.
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.
2004: Renato Frezzotti; Alessandra Renieri; Paolo Frezzotti
Adult-onset primary glaucoma and molecular genetics: a review.
European journal of ophthalmology 2004;14(3):220-5.
2004: Chiara Pescucci; Francesca Mari; Ilaria Longo; Paraskevi Vogiatzi; Richard Caselli; Elisa Scala; Cataldo Abaterusso; Rosanna Gusmano; Marco Seri; Nunzia Miglietti; Elena Bresin; Alessandra Renieri
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
Kidney international 2004;65(5):1598-603.
2004: Simona Gambelli; Alessandro Malandrini; Federica Ginanneschi; Gianna Berti; Elena Cardaioli; Renato De Stefano; MB Franci; Claudio Salvadori; Francesca Mari; Mirella Bruttini; A Rossi; Antonio Federico; Alessandra Renieri
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.
European neurology 2004;51(3):144-7.
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: Francesca Di Leva; Adamo Pio D'Adamo; Luiaino Strollo; Gennaro Auletta; Antonella Caravelli; Massimo Carella; Francesca Mari; Walter Livi; Alessandra Renieri; Paolo Gasparini; Michele D'Urso; Elio Marciano; Annamaria Franzé
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
International journal of audiology 2003;42(8):475-80.
2003: Laura Massella; Andrea Onetti Muda; Tullio Faraggiana; Cristiano Bette; Alessandra Renieri; Gianfranco Rizzoni
Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.
Kidney international 2003;64(5):1787-91.
2003: Jean-Philippe jais; bertrand knebelmann; Iannis Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Karin Dahan; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Journal of the American Society of Nephrology : JASN 2003;14(10):2603-10.
2003: Mirella Bruttini; Ilaria Longo; Paolo Frezzotti; Rossella Ciappetta; Alessandro Randazzo; Nicola Orzalesi; Elena Fumagalli; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.
Archives of ophthalmology 2003;121(7):1034-8.
2003: Andrea Onetti Muda; Laura Massella; Konstantinos Giannakakis; Alessandra Renieri; Gianfranco Rizzoni; Tullio Faraggiana
Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome.
The Journal of investigative dermatology 2003;121(1):208-11.
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: Marco Seri; Alessandro Pecci; Filomena Di Bari; Roberto Cusano; Maria Savino; Emanuele Panza; Alessandra Nigro; Patrizia Noris; Simone Gangarossa; Bianca Rocca; Paolo Gresele; Nicola Bizzaro; Paola Malatesta; Pasi A Koivisto; Ilaria Longo; Roberto Musso; Carmine Pecoraro; Achille Iolascon; Umberto Magrini; Juan Rodriguez Soriano; Alessandra Renieri; Gian Marco Ghiggeri; Roberto Ravazzolo; Carlo L Balduini; Anna Savoia
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Medicine 2003;82(3):203-15.
2003: Chiara Pescucci; Ilaria Longo; Mirella Bruttini; Francesca Mari; Alessandra Renieri
Type-IV collagen related diseases.
Journal of nephrology 2003;16(2):314-6.
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: Alessandro Malandrini; Francesca Mari; Silvia Palmeri; Simona Gambelli; Gianna Berti; Mirella Bruttini; A M Bardelli; Kathy Williamson; Veronica van Heyningen; Alessandra Renieri
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Clinical genetics 2001;60(2):151-4.
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: Maria A Blasi; R Rinaldi; Alessandra Renieri; R Petrucci; Carmelilia De Bernardo; Mirella Bruttini; Paola Grammatico
Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
American journal of ophthalmology 2000;130(1):130-1.
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: Jean-Philippe jais; bertrand knebelmann; I Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; M Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; C Verellen; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; P Martin; Jens Michael Hertz; C Schröder; Marek Sanak; S Krejcova; M F Carvalho; Juan Saus; Corinne Antignac; H Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Journal of the American Society of Nephrology : JASN 2000;11(4):649-57.
2000: Alessandra Renieri; Nicola Giordano; Stephen A Geraci; Carlo Gennari
[Molecular genetics and bone diseases].
Annali dell'Istituto superiore di sanità 2000;36(1):89-98.
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.
2000: G M Frascá; Andrea Onetti Muda; Alessandra Renieri
Thin glomerular basement membrane disease.
Journal of nephrology 2000;13(1):15-9.
1999: M Fimiani; Marco Seri; P Rubegni; Roberto Cusano; Giovambattista De Aloe; Paola Forabosco; Marcella Devoto; Lucio Andreassi; Alessandra Renieri
Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions.
Archives of dermatological research 1999;291(12):637-42.
1999: F Vitelli; Marcello Villanova; Alessandro Malandrini; Mirella Bruttini; M Piccini; Luciano Merlini; Gianni Guazzi; Alessandra Renieri
Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.
Muscle & nerve 1999;22(10):1437-41.
1999: M Piccini; F Vitelli; Marco Seri; L J Galietta; Oscar Moran; Alessandro Bulfone; Sandro Banfi; Barbara R Pober; Alessandra Renieri
KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
Genomics 1999;60(3):251-7.
1999: F Vitelli; M Piccini; Francesco Caroli; B Franco; Alessandro Malandrini; Barbara R Pober; JJ Jonsson; V Sorrentino; Alessandra Renieri
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
Genomics 1999;55(3):335-40.
1999: M Piccini; G Casari; J Zhou; Mirella Bruttini; S L Volti; A Ballabio; Alessandra Renieri
Evidence for genetic heterogeneity in benign familial hematuria.
American journal of nephrology 1999;19(4):464-7.
1999: Yoav Segal; Bernard Peissel; Alessandra Renieri; Mario De Marchi; A Ballabio; Y Pei; Jing Zhou
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
American journal of human genetics 1999;64(1):62-9.
1998: Antonio Federico; Maria Teresa Dotti; Elena Cardaioli; Gabriella Grieco; Alessandro Malandrini; L Manneschi; K Plewnia; Alessandra Rufa; Alessandra Renieri; Mirella Bruttini; G F Perticoni
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
Journal of submicroscopic cytology and pathology 1998;30(4):521-6.
1998: Alessandro Malandrini; Lucia Galli; Marcello Villanova; Silvia Palmeri; E Parrotta; D DeFalco; M Cappelli; Gabriella Grieco; Alessandra Renieri; Gianni Guazzi
CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.
European neurology 1998;40(3):164-8.
1998: Gianna Mazzucco; Paola Barsotti; Andrea Onetti Muda; Mirella Fortunato; M Mihatsch; L Torri-Tarelli; Alessandra Renieri; Tullio Faraggiana; Mario De Marchi; Guido Monga
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.
Journal of the American Society of Nephrology : JASN 1998;9(6):1023-31.
1998: JJ Jonsson; Alessandra Renieri; Patrick G Gallagher; C E Kashtan; Elizabeth M Cherniske; Mirella Bruttini; M Piccini; F Vitelli; A Ballabio; Barbara R Pober
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Journal of medical genetics 1998;35(4):273-8.
1998: M Piccini; F Vitelli; Mirella Bruttini; Barbara R Pober; JJ Jonsson; Marcello Villanova; Massimo Zollo; Giuseppe Borsani; A Ballabio; Alessandra Renieri
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.
Genomics 1998;47(3):350-8.
1998: Tauro M Neri; Paola Francesca Zanelli; giuseppe de palma; Mario Savi; S Rossetti; Alberto Turco; G F Pignatti; L Galli; Mirella Bruttini; Alessandra Renieri; R Mingarelli; A Trivelli; A R Pinciaroli; M Ragaiolo; Gianfranco Rizzoni; Mario De Marchi
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Human mutation 1998;Suppl 1():S106-9.
1997: Andrea Onetti Muda; siavash rahimi; Alessandra Renieri; Gianfranco Rizzoni; Laura Massella; Tullio Faraggiana
Ultrastructural immunocytochemistry of collagenous and non-collagenous proteins in fast-frozen, freeze-substituted, and low-temperature-embedded renal tissue in Alport syndrome.
The Journal of pathology 1997;182(4):465-74.
1997: Alberto Turco; Alessandra Renieri; Mario De Marchi
Alport syndrome--is there a genotype-phenotype relationship?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1997;12(8):1551-3.
1997: Alessandra Renieri; Mirella Bruttini; M Piccini; M Bruno; M Cecconi; M Conti; R Coppo; Angela La Manna; A Trivelli; Mario De Marchi; A Ballabio
Molecular diagnosis of Alport syndrome: the experience in Siena.
Contributions to nephrology 1997;122():132-3.
1996: Alessandra Renieri; Mirella Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; Alberto Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; Adalberto Sessa; Gianfranco Rizzoni; K Tryggvason; Pier Franco Pignatti; M Savi; A Ballabio; Mario De Marchi
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
American journal of human genetics 1996;58(6):1192-204.
1996: Alessandra Renieri; Mario De Marchi
New approaches to the DNA diagnosis of Alport syndrome.
Contributions to nephrology 1996;117():183-97.
1995: M V Schiaffino; Maria Teresa Bassi; L Galli; Alessandra Renieri; Mirella Bruttini; F De Nigris; Arthur A B Bergen; S J Charles; J R Yates; Alfons Meindl
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
Human molecular genetics 1995;4(12):2319-25.
1995: Alessandra Renieri; L Galli; A Grillo; Mirella Bruttini; T Neri; P Zanelli; Gianfranco Rizzoni; L Massella; Adalberto Sessa; Mietta Meroni; L Peratoner; P Riegler; F Scolari; M Mileti; M Giani; M Cossu; M Savi; A Ballabio; M De Marchi
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
American journal of medical genetics 1995;59(3):380-5.
1995: Alberto Turco; S Rossetti; M O Biasi; Gianfranco Rizzoni; L Massella; N H Saarinen; Alessandra Renieri; Pier Franco Pignatti; Mario De Marchi
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
Clinical genetics 1995;48(5):261-3.
1995: Maria Teresa Bassi; M V Schiaffino; Alessandra Renieri; F De Nigris; L Galli; Mirella Bruttini; Marinella Gebbia; Arthur A B Bergen; R A Lewis; A Ballabio
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
Nature genetics 1995;10(1):13-9.
1995: M V Schiaffino; Maria Teresa Bassi; Elena I Rugarli; Alessandra Renieri; L Galli; A Ballabio
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.
Human molecular genetics 1995;4(3):373-82.
1995: Adalberto Sessa; A Pietrucci; S Carozzi; L Torri Tarelli; S Tazzari; F Giordano; Mietta Meroni; Graziana Battini; U Valente; Alessandra Renieri
Renal transplantation from living donor parents in two brothers with Alport syndrome. Can asymptomatic female carriers of the Alport gene be accepted as kidney donors?
Nephron 1995;70(1):106-9.
1994: Alessandra Renieri; L Galli; J Zhou; A Ballabio; Mario De Marchi
A Bg/II polymorphism in the COL4A6 gene.
Human molecular genetics 1994;3(10):1914.
1994: Alessandra Renieri; L Galli; Mario De Marchi; S Li Volti; F Mollica; A Lupo; Giuseppe Maschio; B Peissel; S Rossetti; Pier Franco Pignatti
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
Human molecular genetics 1994;3(1):201-2.
1994: B Peissel; S Rossetti; Alessandra Renieri; L Galli; Mario De Marchi; Graziana Battini; Mietta Meroni; Adalberto Sessa; S Schiavano; Pier Franco Pignatti
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Human mutation 1994;3(4):386-90.
1994: Alessandra Renieri; Mietta Meroni; Adalberto Sessa; Graziana Battini; P Serbelloni; L Torri Tarelli; Marco Seri; L Galli; Mario De Marchi
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.
Nephron 1994;67(4):444-9.
1994: Alessandra Renieri; Maria Teresa Bassi; L Galli; J Zhou; M Giani; Mario De Marchi; A Ballabio
Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
Human mutation 1994;4(3):195-8.
1994: L Massella; Gianfranco Rizzoni; R De Blasis; Paola Barsotti; Tullio Faraggiana; Alessandra Renieri; Marco Seri; L Galli; Mario De Marchi
De-novo COL4A5 gene mutations in Alport's syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1994;9(10):1408-11.
1993: Alessandra Renieri; Marco Seri; L Galli; P Cosci; E Imbasciati; L Massella; Gianfranco Rizzoni; Gabriella Restagno; A O Carbonara; emanuele stramignoni
Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
Human genetics 1993;92(4):417-20.
1993: Lorenzo Leoncini; Carla Vindigni; Tiziana Megha; I Funtò; L Pacenti; M Musarò; Alessandra Renieri; Marco Seri; J Anagnostopoulos; Piero Tosi
Epstein-Barr virus and gastric cancer: data and unanswered questions.
International journal of cancer. Journal international du cancer 1993;53(6):898-901.
1993: Mietta Meroni; Adalberto Sessa; Graziana Battini; L Torri Tarelli; T Bertani; Alessandra Renieri; Marco Seri; Mario De Marchi
Alport syndrome with type I membranoproliferative glomerulonephritis.
Nephron 1993;65(3):479-80.
1992: Alessandra Renieri; Marco Seri; J C Myers; T Pihlajaniemi; L Massella; Gianfranco Rizzoni; Mario De Marchi
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
Human molecular genetics 1992;1(2):127-9.
1992: Alessandra Renieri; Marco Seri; J C Myers; T Pihlajaniemi; Adalberto Sessa; Gianfranco Rizzoni; Mario De Marchi
Alport syndrome caused by a 5' deletion within the COL4A5 gene.
Human genetics 1992;89(1):120-1.
1992: Marco Seri; Barbara Magi; Carla Cellesi; P M Olia; Alessandra Renieri; M De Marchi
Molecular characterization of the P and I variants of alpha 1-antitrypsin.
International journal of clinical & laboratory research 1992;22(2):119-21.