The University of Siena PhD Course in
Genetics, Oncology and Clinical Medicine


PhD Graduate

Maria Antonietta MENCARELLI  

PhD Program years: 2010 - 2013




PUBLICATIONS DURING THE PHD PROGRAM

    1. Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
    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.
    Br J Ophthalmol. 2011 May;95(5):624-6.

    2. Investigation of modifier genes within copy number variations in Rett syndrome.
    Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.
    J Hum Genet. 2011 Jul;56(7):508-15.

    3. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.
    Orphanet J Rare Dis. 2011 Jun 9;6:38.

    4. iPS cells to model CDKL5-related disorders.
    Amenduni M, De Filippis R, Cheung AY, Disciglio V, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri A, Ellis J, Meloni I.
    Eur J Hum Genet. 2011 Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131.

    5. p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
    Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D.
    J Hum Genet. 2011 Sep;56(9):685-6.

    6. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
    Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.
    Nature. 2011 Aug 31;478(7367):97-102.

    7. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
    Mencarelli MA, Tassini M, Pollazzon M, Vivi A, Calderisi M, Falco M, Fichera M, Monti L, Buoni S, Mari F, Engelke U, Wevers RA, Hayek J, Renieri A.
    Am J Med Genet A. 2011 Oct;155A(10):2446-52.

    8. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
    De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli M, Hayek J, Renieri A, Costa M, Mari F.
    Clin Genet. 2011 Nov 17. doi: 10.1111/j.1399-0004.2011.01810.x. [Epub ahead of print]

    9. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
    Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R.
    Am J Med Genet A. 2012 Jul;158A(7):1793-7

    10. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
    Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.
    Eur J Med Genet. 2012 Jun

    11. New understandings of the genetic basis of isolated idiopathic central hypogonadism.
    Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes.
    Asian J Androl. 2012 Jan
    12. Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
    Livide G, Epistolato MC, Amenduni M, Disciglio V, Marozza A, Mencarelli MA, Toti P, Lazzi S, Hadjistilianou T, De Francesco S, D'Ambrosio A, Renieri A, Ariani F.
    Pathol Oncol Res. 2012 Jul

ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM
  1. 1. FOXG1 mutation leading to reduced chromatin affinity causes “Rett fruste” overlapping with EHMT1 phenotype.(2nd European Rett syndrome Conference Edinburgh, Scotland, 7-10 October 2010)

    2. Induced pluripotent stem cells as a human model to study disease mechanisms in Rett syndrome
    (2nd European Rett syndrome Conference Edinburgh, Scotland, 7-10 October 2010.)

    3. Clinical signs, disease categories and CNVs. (7th International DECIPHER Symposium, Hinxton, UK, May 23-25, 2011)

    4. iPS cells to model CDKL5-related disorders (ESHG 2011, Amsterdam 28-31 Maggio 2011)

    5. iPS cells to study Rett spectrum disorders (12th Annual Rett syndrome Symposium, Leesburg, VA, June 26-28, 2011)

    6. Difetti del trasportatore della creatina in una coorte di pazienti maschi con ritardo mentale (XIII Congresso Nazionale: Società Italiana di Genetica Umana, 14-17 Ottobre 2010 Firenze)

    7. Microriarrangiamenti in 95 pazienti con diagnosi di spettro autistico. (XIII Congresso Nazionale: Società Italiana di Genetica Umana, 14-17 Ottobre, 2010 Firenze)

    8. Cellule staminali pluripotenti indotte (iPS) come modello per lo studio delle varianti della sindrome di Rett (CDKL5 e FOXG1). (XIII Congresso Nazionale: Società Italiana di Genetica Umana, 14-17 Ottobre, 2010 Firenze)

    9. Ruolo dei polimorfismi dei geni MDM2 (SNP309T>G) e TP53 (R72P) nella modulazione della variabilità fenotipica del retinoblastoma. (XIII Congresso Nazionale: Società Italiana di Genetica Umana, 14-17 Ottobre 2010 Firenze)

    10. Mutazioni in FOXG1 che causano ridotta affinità per la cromatina sono responsabili della sindrome di Rett nella variante “Rett Fruste” con fenotipo sovrapponibile a quello da mutazioni in EHMT1. (XIII Congresso Nazionale: Società Italiana di Genetica Umana, 14-17 Ottobre 2010 Firenze)
          11. HLA genes in the susceptibility to Rett syndrome E. Dametto, A.P. Petta Bika, M. Boetto, S. Rendine, M.E. Fasano, F.                          Bertinetto, E. Grillo, M.A. Mencarelli, G. Livide, F. Ariani, A. Renieri and A. Amoroso The Joint 16th International HLA and                    Immunogenetics Conference/26th
          European Immunogenetics and Histocompatibility Conference/23rd British Society of Histocompatibilty and Immunogenetics            Conference Liverpool - 28 May-3 June 2012.

          12. Revealing the complex nature of a monogenic disease: exome sequencing of Rett syndrome. Ariani Francesca, Mencarelli              Maria Antonietta, Grillo Elisa, Bianciardi Laura, Meloni Ilaria, Di Marco Chiara, Lo Rizzo Caterina, Mari Francesca, Renieri                    Alessandra. ASHG Annual Meeting, San Francisco November 6-10, 2012

          13. Exome sequencing in two couples of discordant RTT girls. Grillo Elisa, Bianciardi Laura, Gragnoli Eleonora, Meloni Ilaria,                  Mencarelli Maria Antonietta, Di Marco Chiara, Hayek Giuseppe, Mari Francesca, Ariani Francesca, Renieri Alessandra 7th                    World Rett Syndrome Congress , New Orleans 22-26 June, 2012

          14. Advances in Cohen syndrome diagnosis using Next Generation Sequencing R. Tita, L. Dosa, V. Bizzarri, M. Baldassarri, E.                  Lapi, R. Tenconi, S. Buoni, L. Zelante, M. F.Bedeschi, B. De Vries, S. Lalani, A. Selicorni, F. Brancati, R. Grasso, S. Kuzbari, P. Sarda,              P. Blanchet, M. A. Mencarelli, I. Longo, M. Bruttini, F. Ariani, F. Mari, A. Renieri European Human Genetics Conference 2012:                Nürnberg, Germany, June 23-26, 2012

          15. Mirror effects for Autism Spectrum Disorder due to gene dosage at 10q11.22 affecting GPRIN2 gene, a regulator of neurite            outgrowth and PPYR1 gene involved in energy homeostais. V. Disciglio, M. Fichera, R. Ciccone, M. Mucciolo, E. Ndoni, A.                    Fernández Jaén, O. Galesi, M. Vinci, P. Failla, M.A. Mencarelli, C. Lo Rizzo, F. Mari, O. Zuffardi, C. Romano, A. Renieri. European            Human Genetics Conference 2012: Nürnberg, Germany, June 23-26, 2012

         16. EVIDENCE FOR A NEW GENE CONTIGUOUS SYNDROME AT 22q13, NOT INVOLVING SHANK3 GENE Disciglio V.1, Marozza             A.1, Mucciolo M., Mencarelli M.A., Fichera M., Romano C., Anderlid B.M., Clayton-Smith J., Metcalfe K., David A., Le Caignec               C., Tümer Z., Fryer A., Andrieux J., Novelli A., Pecile V., Mari F., Renieri A. 7th International Meeting on CNVs and Genes in                   Intellectual Disability and Autism, Troina, April 13 and 14, 2012

         17. V. Disciglio, M. Mucciolo, M.A. Mencarelli, C. Castagnini, M. Pollazzon, A. Marozza, F. Mari, A. Renieri. Fenotipi opposti di               BMI si associano al dosaggio genico della regione 16p11.2. XIV Congresso Nazionale: Società Italiana di Genetica Umana, 13-16             Novembre 2011 Milano

         18. Rondinella D., Epistolato M.C., Longo I., Parri V., Bruttini M., Mancini R., Cencini M., Ferretti C., Mencarelli M.A., Mari F.,                 Centini G., Renieri A. QF-PCR, karyotype and array-CGH in high risk pregnancies. XIV Congresso Nazionale: Società Italiana di             Genetica Umana, 13-16 Novembre 2011 Milano

         19. De Filippis R, Amenduni M, Disciglio V, Mucciolo M, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek J, Renieri A,                   Meloni I. Induced Pluripotent Stem Cells (iPSCs) to study Rett syndrome. XIV Congresso Nazionale: Società Italiana di Genetica           Umana, 13-16 Novembre 2011 Milano

         20. Mucciolo M., Disciglio V., Mencarelli M.A., Marozza A., Castagnini C., Dosa L., Lo Rizzo C., Di Marco C., Mari F. ,Renieri A.             Clinical signs, disease categories and CNVs. XIV Congresso Nazionale: Società Italiana di Genetica Umana, 13-16 Novembre 2011           Milano

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
  • University Hospital of Wales, Heath Park, Cardiff, UK
    2013: three months