Attività scientifica

Il personale della U.O.C. Laboratorio di Genetica Medica svolge, in collaborazione con gruppi nazionali ed internazionali, una intensa attività di ricerca scientifica. Ciò è reso evidente dai lavori scientifici pubblicati su riviste internazionali. Sono raccolte in questa area i lavori scientifici pubblicati dal laboratorio di genetica medica dal 2007 ad oggi.

  1. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
    Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Genet Med. 2022 Feb
  2. Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance. Pascolini G, Gnazzo M, Novelli A, Grammatico P.
    Am J Med Genet A. 2022 Feb 7
  3. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Pascolini G, Passarelli C, Lipari M, Chandramouli B, Chillemi G, Di Giosaffatte N, Novelli A, Grammatico P.Clin Genet. 2022 Mar
  4. Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
    Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F. Clin Exp Rheumatol. 2022 May
  5. First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes. Pascolini G, Calvani M, Grammatico P. Ital J Pediatr. 2022 Jun
  6. Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman. Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Prenat Diagn. 2022 Jul
  7. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P. Genes (Basel). 2022 Jul
  8. Longitudinal dynamics of SARS-CoV-2 anti-receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination. Bordi L, Sberna G, Piscioneri CN, Cocchiara RA, Miani A, Grammatico P, Mariani B, Parisi G. Int J Infect Dis. 2022 Sep
  9. Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants. D'Angelantonio D, Majore S, Di Netta T, Zotta F, Parise G, Savino E, Rosignoli S, Bizzarri B, Signore F, Grammatico P, Bottillo I. Arch Pediatr. 2022 Sep
  1. Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation. Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P. J Mol Neurosci. 2021 Jul 5.
  2. Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti. Crocchiolo R, Mele L, Testi M, Scollo Chiara M, Murgia B, Rossi A, Vecchiato C, Grammatico P, Mininni D, Longhi E, Manfroi S, Giuliodori S, Castellani L, Carella G, Lai S, Azzaro Maria P, Mazzi B, Perotti L, Penta R, Lombardo C, Tognellini R, Andreani M, Albergoni Maria P, Nesci S, Cappuzzo V, Chiusolo P, Garino E, Cappucci G, Ceschini N, Bevilacqua E, Guizzardi E, Tagliaferri Cinzia M, Piazza A, Carcassi C, Miotti V.HLA. 2021 Aug.
  3. Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X. Pontecorvi P, Megiorni F, Camero S, Ceccarelli S, Bernardini L, Capalbo A, Anastasiadou E, Gerini G, Messina E, Perniola G, Benedetti Panici P, Grammatico P, Pizzuti A, Marchese C.Biology (Basel). 2021 May 21.
  4. True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. Nicolazzo C, Barault L, Caponnetto S, De Renzi G, Belardinilli F, Bottillo I, Bargiacchi S, Macagno M, Grammatico P, Giannini G, Cortesi E, Di Nicolantonio F, Gazzaniga P.Cancer Lett. 2021 Jun 1.
  5. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW.Genet Med. 2021 Jun.
  6. Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome. Pontecorvi P, Bernardini L, Capalbo A, Ceccarelli S, Megiorni F, Vescarelli E, Bottillo I, Preziosi N, Fabbretti M, Perniola G, Benedetti Panici P, Pizzuti A, Grammatico P, Marchese C. Sci Rep. 2021 Jan 11
  7. Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P. Clin Genet. 2021 Apr.
  8. Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry. Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P. Am J Med Genet A. 2021 Mar
  9. Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments. Nicolazzo C, Gelibter A, Bottillo I, Belardinilli F, Pisegna S, De Renzi G, Marinelli D, Grammatico P, Cortesi E, Giannini G, Gazzaniga P. Diagnostics (Basel). 2021 Nov 25
  1. Bottillo I, Valiante M, Menale L, Paiardini A, Papi L, Janson G, Sestini R, Iorio A, De Simone P, Frascione P, Grammatico P. A novel CDKN2A in-frame deletion associated with pacreatic cancer-melanoma syndrome. Dermatol Online J. 2020 Aug 15.
  2. Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. Am J Hum Genet. 2020 Aug 3.
  3. Pascolini G, Agolini E, Fleischer N, Pierantoni R, Loddo S, Novelli A, Bernardini L, Majore S, Grammatico P. Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurol Sci. 2020 Jun 11.
  4. Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. Am J Med Genet A. 2020 Jul.
  5. Malapelle U, Pepe F, Pisapia P, Sgariglia R, Nacchio M, De Luca C, Lacalamita R, Tommasi S, Pinto R, Palomba G, Palmieri G, Vacirca D, Barberis M, Bottillo I, Grammatico P, Grillo LR, Costa V, Smeraglio R, Bruzzese D, Troncone G. Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel. Front Oncol. 2020 Mar 11
  6. Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clin Genet. 2020 Mar. 
  7. Pascolini G, Valiante M. Bottillo I, Laino L, Fleisher N. Ferraris A, Grammatico P. Striking phenotypic overlap between Nocolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Eur. J. Med. Genet. 2020 Mar
  8. Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M. Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy. Biochim Biophys Acta Mol Basis Dis. 2020 Feb 24.
  9. Pascolini G, Agolini E, Novelli A, Majore S, Grammatico P. The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype. Clin Genet. 2020 Jan 29.
  10. Lipari M, Wypasek E, Karpiński M, Tomkiewicz-Pajak L, Laino L, Binni F, Giannarelli D, Rubiś P, Petkow-Dimitrow P, Undas A, Grammatico P, Bottillo I. Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. Pol Arch Intern Med. 2020 Jan 9.
  11. Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M. Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes (Basel). 2020 Dec 17.
  12.  De Simone P, Bottillo I, Valiante M, Iorio A, De Bernardo C, Majore S, D'Angelantonio D, Valentini T, Sperduti I, Piemonte P, Eibenschutz L, Ferrari A, Carbone A, Buccini P, Paiardini A, Silipo V, Frascione P, Grammatico P. A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes. Int J Mol Sci. 2020 Dec 11
  13. Barbanera Y, Arcioni F, Lancioni H, La Starza R, Cardinali I, Matteucci C, Nofrini V, Roetto A, Piga A, Grammatico P, Caniglia M, Mecucci C, Gorello P. Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study. PLoS One. 2020 Oct 22
  1. Pascolini G, Fleischer N, Ferraris A, Majore S, Grammatico P. The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers. J Hum Genet. 2019 Aug.
  2. Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L. TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Hum Mutat. 2019 Jun 27.
  3. Fusco C, Morlino S, Micale L, Ferraris A, Grammatico P, Castori M. Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders. Genes (Basel).2019 Jun 10.
  4. Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, Bottillo I, Wang X, Shao L. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. Endocrine. 2019 Jun.
  5. Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. Rheumatology (Oxford). 2019 Feb 19.
  6. Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. Psychiatr Genet. 2019 Feb 4.
  7. Catalano M, Preziosi N, Iaquinta G, Testi M, Grammatico P. A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor. HLA. 2019 Jan 20.
  8. Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A. LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. Am J Med Genet A. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18.
  9. Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. Ann Hematol. 2019 Mar;98(3):809.
  1. Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A. LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. Am J Med Genet A. 2018 Dec 18.
  2. D'Andrea E, Lagerberg T, De Vito C, Pitini E, Marzuillo C, Massimi A, Vacchio MR, Grammatico P, Villari P. Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. Eur J Hum Genet. Sep 26 2018.
  3. Zhang R, Wang J, Wang Q, Han Y, Liu X, Bottillo I, Lang Y, Shao L. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report. BMC Med Genet. 2018 Sep 20.
  4. Piedimonte C, Penge R, Morlino S, Sperduti I, Terzani A, Giannini MT, Colombi M, Grammatico P, Cardona F, Castori M.Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder. Am J Med Genet B Neuropsychiatr Genet. Sep 2018.
  5. Scherl KC, Leonetti E, Laino L ì Gigantino V, Grammatico P, Bizzari M, Franco R, Oosterhuis WJ, Looijenga LHJ, Ricci G, Catizone A. c-MET receptor as potential biomarker and target molecule for Testicular Germ Cell Tumours. Oncotarget. Aug 7 2018.
  6. Matteocci A, Mancuso T, Pirelli F, Hailemariam T, Moscetti A, Castagna K, Collaretti A, Rogai L, Nespoli G, Grammatico P, Pierelli L.Two novel RHD alleles encoding truncated, nonfunctional D polypeptides. Transfusion. Aug 2018.
  7. Lu J, Zhao X, Paiardini A, Lang Y, Bottillo I, Shao L. Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. BMC Nephrol. 2018 Jul 13.
  8. Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. Ann Hematol. Jul 6 2018.
  9. Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. Eur J Hum Genet. 2018 Jun 11.
  10. Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. May 2018.
  11. Bottillo I, La Starza R, Radio FC, Molica C, Pedace L, Pierini T, De Bernardo C, Stingeni L, Bargiacchi S, Paiardini A, Janson G, Mecucci C, Grammatico P. A novel germline mutation in CDK4 codon 24 associated to familial melanoma. Clin Genet. Apr 2018.
  12. D'Andrea E, Lagerberg T, De Vito C, Pitini E, Marzuillo C, Massimi A, Vacchio MR, Grammatico P, Villari P. Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. Eur J Hum Genet. Apr 2018
  13. Pascolini G, Valiante M, Majore S, Cariola F, Laino L, Calvani M, Grammatico P. Incidental finding of an Xq microdeletion in a girl with Trichorhinophalangeal Syndrome Type I harboring a novel TRPS1 Nonsense mutation. Minerva Pediatr. Apr 12 2018
  14. Shao L, Cui L, Lu J, Lang Y, Bottillo I, Zhao X. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. FEBS Open Bio. 2018 Feb 10.
  15. Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. Biochim Biophys Acta Mol Basis Dis. 2018 Feb.
  16. Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. Jan 2018.
  1. Gerbino A, Bottillo I, Milano S, Lipari M, Zio R, Morlino S, Mola MG, Procino G, Re F, Zachara E, Grammatico P, Svelto M, Carmosino M. Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects. Cell Physiol Biochem2017 Dec 4.
  2. Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D. Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct.
  3. Piceci F, Morlino S, Castori M, Buffone E, De Luca A, Grammatico P, Guida V. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Clin Genet. 2017 May.
  4. Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2017 Apr 6
  5. Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network., Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. COL6A5 variants in familial neuropathic chronic itch. Brain. 2017 Mar 1.
  1. Chiabrando D, Castori M, di Rocco M, Voigt M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Hübner CA, Altruda F, Silengo L, Tolosano E and Kurth I. Mutations in the heme exporter flvcr1 cause sensory neurodegeneration with loss of pain perception. PLOS Genetics Dec 6 2016.
  2. Cosentino I, Zeri F, Swann PG, Majore S, Radio FC, Palumbo P, Grammatico P, Petitti V. Hyperfeerritinemia-cataract syndrome: lung term ophtalmic observation in an Italian family. Ophtalmic Genet Sep 2016
  3. Piceci F, Morlino S, Castori M, Buffone E, De Luca A, Grammatico P, Guida V. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Clin Genet 2016, Aug 9
  4. Castori M, Morlino S, Sana ME, Paradisi M, Tadini G, Angioni A, Malacarne M, Grammatico P, Iascone M, Forzano F. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. Clin Exp Dermatol Aug 2016.
  5. Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female wih Danon disease: a case report and literature review. Cardiovasc Pathol 2016 Jul 25.
  6. Cazzato D, Castori M, Lombardi R, Caravello F, Dallabella E, Petrucci A, Grammatico P, Dordoni C, Colombi M. Small fiber neuropathy is a common feature of Ehlers-Danlos Syndrome. Neurology, 2016 July 12.
  7. Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Clinical and molecular characterization of a boy woth intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL RAPL1 intragenic rearrangement. Eur J Paediatr Neurol 2016 Jul 11.
  8. Castori M, Servadei F, Laino L, Pascolini G, Fabbri R, Cifani AE, Scassellati Sforzolini G, Silvestri E, Grammatico P. Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses. Am J Med Genet A. Mar 2016.
  9. Bottillo I, D’Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Majore S, Castori M, Zachara E, Re F, Grammatico P. Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomiopathy. Data Brief, Mar, 2016.
  10. Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P. Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. Feb 15 2016
  11. Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L. Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res A Clin Mol Teratol. Jan 2016
  1. Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S.SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. Eur J Med Genet. 58(2),66-70,2015 Feb.
  2. Castori M, Morlino S, Ghibellini G, Celletti C, Camerota F, Grammatico P. Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. Am J Med Genet C Semin Med Genet. 169(1),84-96, 2015 Mar.
  3. Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet. 169(1),43-53,2015 Mar.
  4. Marrocco G, Grammatico P, Vallasciani S, Gulia C, Zangari A, Marrocco F, Bateni ZH, Porrello A, Piergentili R. Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients. J Pediatric Urol 11(1),12-19, 2015
  5. Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nurnberg P, IAscone M, Grammatico P. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distintive facial appearance: delineation of cerebro-dermato-osseous-dysplasia. Am J Med Genet A, 167(4),842-851,2015. 
  6. Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P. Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet 169(1),54-75,2015. 
  7. Caruso M, Ferranti F, Corano Scheri K, Dobrowolny G, Ciccarone F, Grammatico P. Catizone A, Ricci G. R-Spondin 1/Dickkopf-1/Beta-Catenin Machinery Is involved in testicular embryonic angiogenesis. PloS ONE Apr 24;10(4): e0124213.,2015                
  8. Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LDV, Nguyen TTM, Thierry P, White SM , Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nature Genetics, Jun;47(6):661-7,2015 
  9. Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes. Blood Cells Mol Dis. Jun;55(1):71-5,2015
  10. Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P. Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. Birth Defects Res A Clin Mol Teratol. 2015 Jun
  1. Tremante E, Ginebri A Lo Monaco E, Benassi B, Frascione P, Grammatico P, Cappellacci S, Catricalà C, Arcelli D, Di Filippo F, Natali PG, Mottolese M, Visca P, Benevolo M, and Giacomini P. A melanoma immune response signature including Human Leukocyte Antigen (HLA)-E,". Pigment Cell Melanoma Res
  2. Castori M, Morlino S, Grammatico P.Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet A. 164A(3):588-90,2014
  3. Barzi C, Vecchiato C, Catalano M, Grammatico P, Moscetti A. Detection of a novel HLA-B allele, HLA-B*08:111, in an Italian bone marrow donor.Tissue Antigens. Jan;83(1):57-9,2014165) De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S,Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A. Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Haematologica. 99(66):1022-31,2014
  4. Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M. Novel SMAD4 mutation causing Myhre syndrome. Am J Med Genet A. 164(7):1835-1840,2014
  5. Pedace L, Cozzolino AM, Barboni L, De Bernardo C, Grammatico P, De Simone P, Buccini P, Ferrari A, Catricalà C, Colombo T, Donati P, Morrone A. A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma. Cancer Genet. Apr;207(4):168-9,2014.
  6. Basile E, Ramieri V, Papoff P, Castori M, Grammatico P, Bianca C, Angeletti D, Cascone P.Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. J Craniofac Surg. May;25(3):e304-7,2014
  1. Resta N, Stella A, Lenato G, Pierannunzio D, Capocaccia R, Bagnulo R, Lastella P, Susca F, Bozzao C, Sabba C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco M, Tibiletti MG, Di Gregorio C, Ponz de Leon M. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers Syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013 Feb 14
  2. Puntervoll HE,Yang XR, Vetti HH, Bachmann IM, Avril MF, Catricalà C, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Jouary T, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Newton-Bishop J, Goldstein AM, Akslen LA & Molven A. Malignant Melanoma Families with CDK4 Germline Mutations. J Med Genet. 2013 Feb 5.
  3. Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clin Genet. 2013 Feb 21. doi: 10.1111/cge.12106.
  4. Majore S, Ricerca BM, Radio FC, Binni F, Cosentino I, Gallusi G, De Bernardo C, Morrone A, Grammatico P. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction? Blood Cells Mol Dis Jan;50(1):31-2,2013.
  5. Castori M. Diabetic embryopathy: a developmental perspective from fertilization to adulthood. Mol Syndromol. Feb;4(1-2):74-86, 2013
  6. Guarino N, Scommegna S, Majore S, Rapone AM, Ungaro L, Morrone A, Grammatico P, Marrocco GA. Vaginoplasty for disorders of sex development. Front Endocrinol (Lausanne). 2013 Mar 11;4:29.
  7. Celletti C, Castori M, La Torre G, Camerota F. Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type. Biomed Res Int. 2013;2013:580460. doi: 10.1155/2013/580460. Epub 2013 Jul 14.
  8. Lambert de Rouvroit C, Charlier C, Lederer D, De Glas V, De Vuyst E, Dargent JL, Grammatico P, Binni F, Rousseau C, Hennecker JL, Nikkels AF, Poumay Y. In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype. J Dermatol Sci. 2013 Aug;71(2):138-40
  9. TremanteE, Ginebri A Lo MonacoE, Benassi B, Frascione P, Grammatico P, Cappellacci S, Catricalà C, ArcelliD, Di Filippo F, NataliPG, Mottolese M, ViscaP, Benevolo M, and Giacomini P. A melanoma immune response signature including Human Leukocyte Antigen (HLA)-E,". Accettato agosto 2013 Pigment Cell & Melanoma Research
  10. Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Clinical and Genetic Study of Two Patients with Zimmermann-Laband Syndrome and Literature Review. Eur J Med Genet. 2013 Aug 27. doi:pii: S1769-7212(13)00177-8. 10.1016/j.ejmg.2013.08.004.
  11. Granata G, Padua L, Celletti C, Castori M, Saraceni VM, Camerota F. Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers-Danlos syndrome. Clin Neurophysiol. 2013 Aug;124(8):1689-94.
  12. Bottillo I, Morrone A, Grammatico P. Pharmacogenetics in the Era of next generation sequencing. Eur J Pharmacoviogilance 1: : 109. doi:10.4172/2329-6887.1000109, 2013
  13. Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, Morrone A, De Bernardo C, Grammatico P. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. Blood Cells, Molecules and Diseases, accettato settembre 2013.
  14. Castori M Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. G Ital Dermatol Venereol. 2013 Feb;148(1):13-36. Review.
  1. Putignani L, Raffa S, Pescosolido R, Rizza T, Del Chierico F, Leone L, Aimati L, Signore F, Carrozzo R, Callea F, Torrisi MR, Grammatico P. Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer. Mitochondrion. 2012 Feb 18.
  2. Castori M, Morrone A, Kanitakis J, Grammatico P. Genetic skin diseases predisposing to basal cell carcinoma. Eur J Dermatol. 2012 Mar 2.
  3. Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. Am J Med Genet A. 158(A), 1164-9, 2012
  4. Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M. Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. J Neurol Sci. 2012 May 1.
  5. Castori M. Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Gynecologic and obstetric implicationes of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients. Am J Med Genet A. Jul 27 2012
  6. Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Managment of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet A. 158A(8):2055-2070, 2012
  7. Gharbiya M, Moramarco A, Castori M, Parisi F, Celletti C, Marenco M, Mariani I, Grammatico P, Camerota F. Ocular features in joint hypermobility syndrome/ Ehlers-Danlos syndrome hypermobility type: a clinical and in vivo confocal mycroscopy study. Am J Ophtalmology May 23, 2012.
  8. Majore S, Ricerca BM, Radio FC, Binni F, Cosentino I, Gallusi G, De Bernardo C, Morrone A, Grammatico P. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction? Blood Cells Mol Dis Sep 11 2012.
  1. Celletti C, Castori M, Galli M,Rigoldi C, Grammatico P, Albertini G, Camerota F. Evaluation of balance and improvement of proprioception by ripetitive muscle vibration in a 15-year-old girl with joint hypermobility syndrome. Arthritis Care Res 2011, May 63(5):775-9. IF: 4,152
  2. Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC. Human RSPO1/R-spondin1 is espresse during early ovary development and augments β-catenin signaling. Plosone Jan 28;6(1):e16366, 2011. IF: 4,351
  3. Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Ferraro C, De Bernardo C, Castori M, Grammatico P. Molecular Characterization of 11 Italian Patients with Darier Disease. European Journal of Dermatology, 2011;21(3)334-8. IF: 2,25
  4. Pedace L, Castiglia D, De Simone P, Castori M, De Luca N, Amantea A, Binni F, Majore S, Zambruno G, Catricalà C, Grammatico P. AXIN2 Germline mutations are rare in familial melanoma. Genes, Chromosomes and Cancer, May;50(5):370-3 2011. IF: 3,858
  5. Giancotti A, Castori M, Spagnuolo A, Binni F, D'Ambrosio V, Pasquali G, Pizzuti A, Grammatico P Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis. Am J Med Genet A. 2011 Jul;155A(7):1756-8. IF: 2,404
  6. 48) Castori M, Celletti C, Camerota F, Grammatico P. Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome. Clin Exp Rheumatol. 2011 May-Jun;29(3):597-8. IF: 2,396
  7. Celletti C, Castori M, Grammatico P, Camerota F.Evaluation of lower limb disability in joint hypermobility syndrome. Rheumatol Int. 2011 Jul 27. IF: 1,431
  8. Danese C, Castori M, Celletti C, Amato S, Lo Russo C, Grammatico P, Camerota F. Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. Am J Med Genet A. 2011 Sep;155(9):2314-6. IF: 2,404
  9. Castori M, Sarazani S, Binni F, Pezzella FR, Cruciani G, Grammatico P.Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis. Am J Med Genet A. 2011 Sep;155(9):2253-6. IF: 2,404
  10. Pedace L, De Simone P, Castori M, Sperduti I, Silipo V, Eibenschutz L, De Bernardo C, Buccini P, Moscarella E, Panetta C, Ferrari A, Grammatico P, Catricalà C. Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. Cancer Epidemiol. 2011 Sep 3. [Epub ahead of print]. IF: 1,182
  11. Castori M, Sperduti I, Celletti C, Camerota F, Grammatico P. Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type) Clin Exp Rheumatol. 2011 Nov-Dec;29(6):998-1005. IF: 2,396
  12. Celletti C, Castori M, La Torre G, Grammatico P, Morico G, Camerota F. Reassessment of oral frenula in Ehlers-Danlos syndrome: a study of 32 patients with hypermobility type. Am J Med Genet A. 2011 Dec; 155A(12):3157-9. IF: 2,404
  13. Cozzolino A.M., Pedace L., De Bernardo C., Castori M., De Simone P., Preziosi N., Sperduti I., Panetta C., Mogini V., Morrone A., Catricalà C., Grammatico P. Analysis of the miR-34a Locus in 62 Patients with Familial Cutaneous Melanoma Negative for CDKN2A/CDK4 Screening. Familial Cancer Dec 2011. IF: 2,139
  1. Castori M, Annessi G, Castiglia D, Buffa V, Paradisi A, Cascone P, Zambruno G, Grammatico P, Paradisi M. Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae and blepharophimosis: a novel epidermal nevus syndrome. Am J Med Genet A. 2010 Jan;152A(1):25-31. IF: 2,404
  2. Cialfi S, Oliviero C, Ceccarelli S, Marchese C, Barbieri L, Biolcati G, Uccelletti D, Palleschi C, Barboni L, De Bernardo C, Grammatico P, Magrelli A, Salvatore M, Taruscio D, Frati L, Gulino A, Screpanti I, Talora C. Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. Br J Dermatol. Mar;162(3):518-26, 2010. IF: 4,206
  3. Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A, Mar;152A(3):556-64, 2010. IF: 2,404
  4. Castori M, Camerota F, Celletti C, Grammatico P, Padua L. Quality of life in the classic and hypermobility types of Elhers-Danlos Syndrome. Annals of  Neurology  Jan;67(1):145-6, 2010. IF: 9,317
  5. Giordano F, Abballe A, De Felip E, di Domenico A, Ferro F, Grammatico P, Ingelido AM, Marra V, Marrocco G, Vallasciani S, Figà-Talamanca I. Maternal exposures to Endocrine Disrupting Chemicals (EDCs) and Hypospadias in the offspring. Birth Defects Res A Clin Mol Teratol. Apr;88(4):241-50, 2010. IF: 1,908
  6. Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Novel and Recurrent p14ARF Mutations in Italian Familial Melanoma. Clin Genet. Jun;77(6):581-6, 2010. IF: 3,304
  7. Iannicelli M,Brancati F, Mougou-Zerelli S, Mazzotta A,Thomas S,Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D’Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, the International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation, May;31(5):E1319-31, 2010. IF: 6,887
  8. Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome. Eur J Med Genet. May-Jun;53(3):149-52, 2010. IF: 1,568
  9. Castori M, Silvestri E, Cappellacci S, Binni F, Sforzolini GS, Grammatico P. Sirenomelia and VACTERL association in the offspring of a woman with diabetes. Am J Med Genet A. Jul;152A(7):1803-7, 2010. IF: 2,404
  10. Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L. Identification of the second CFTR mutation in patients with congenital bulateral absence of vas deferens undergoing ART protocols Asian Journal of Andrology:12(6):819-826,2010. IF: 1,688
  11. Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P. Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. Am J Med Genet A. Aug;152A(8):2043-7.2010. IF: 2,404
  12. Castori M, Camerota F, Celletti C, Grammatico P, Padua L. Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. Am J Med Genet A. 2010 Sep;152A(9):2406-8. IF: 2,404
  13. Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RC, Grammatico P. Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. Am J Med Genet A. Nov;152A(11):2810-5,2010. IF: 2,404
  14. Castori M, Cascone P, Brinelli M, Iannetti G, Grammatico P. The Nosology of Richieri-Costa/Guion-Almeida Syndrome(s) Am J Med Genet A. 2010 Dec 22 (Epub ahead of print) IF: 2,404
  15. Camerota F, Celletti C, Castori M, Grammatico P, Padua. Neuropathic pain is a common features in Ehlers-Danlos syndrome. J Pain Symptom Manage Dec 7, 2010. IF: 2,423
  1. Castori M, Rinaldi R, Barboni L, Tanzilli P, Bamshad M, Grammatico P. Juvenile Macular Dystrophy and Forearm Pronation-Supination Restriction Presenting with Features of Distal Arthrogryposis Type 5. Am J Med Genet A. 149A (3):482-6, 2009. IF: 2,404
  2. Castori M, Majore S, Binni F, Grammatico P. Paradoxical association of extensive nevus flammeus together with unilaterale lower limb and brest hypoplasia. Am J Med Genet A 149A(2):266-7,2009. IF: 2,404
  3. Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, Nelson LM, Beck-Peccoz P, Persani L. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Human Mutation 30(5):804-810,2009. IF: 6,887
  4. Andreani M, Radio FC, Testi M, De Bernardo C, Troiano M, Majore S, Bertucci P, Polchi P, Lucarelli G, Grammatico P. Association of Hepcidin promoter c.-528A>G variant in iron overload inthalassemia major. Hematologica 94(9):1293-1296,2009. I.F.: 6,416
  5. Ricerca BM, Radio FC, De Marinis L, De Bernardo C, Castori M, Sacco E, Grammatico P, Majore S. Natural history of TRF2-related hereditary hemochromatosis in a 47-yr-old Italian patient. European Journal of Haematology,83(5):494-6, 2009. I.F. 2,345
  6. Lètocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Féerec C, Grammatico P. A novel missense mutation SLC40A1 results in resistance to hepcidin and confirms phenotypic heterogeneity of the ferroportin disease. British Journal of Haematology 147(3):379-85,2009. I.F. 4,597
  7. Castori M, Barboni L, Duncan PJ, Paradisi M, Laino L, De Bernardo C, Robinson DO, Grammatico P.  Darier disease, multiple bone cysts and anidridi due to double de novo heterozygous mutations in ATP2A2 and PAX6. Am J Med Genet 149A(8):1768-72,2009. IF: 2,404
  8. Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P. A nove heterozygous SOX2 mutation causing anophtalmia/microphtalmia with genital anomalies. Eur J Med Genet 52(4):273-276,2009. IF: 1,568
  9. Crocchiolo R, Zino E, Vago L, Oneto R, Bruno B, Pollichieni S, Sacchi N, Sormani MP, Marcon J, Lamparelli T, Fanin R, Garbarino L, Miotti V, Bandini G, Bosi A, Ciceri F, Bacigalupo A, Fleischhauer K; Gruppo Italiano Trapianto di Midollo Osseo, Cellule Staminali Ematopoietiche (CSE) e Terapia Cellulare; Italian Bone Marrow Donor Registry. Collaboratori: Scalari P, Bontempelli M, Prinoth O, Carcassi C, Marcenò R, Porfirio, Rombolà G, Garbarino L, Lombardo, Ferrioli G, Poli F, Scalamogna M, Fleischhauer K, Mazzi B, Rossi F, Mascaretti L, Albergoni, Salvaneschi L, Salvaneschi M, Valentini, Nesci S, Papola F, Scatena, Mariotti, Perrone, Laurenti, Grammatico P, Mariani M, Favoino B, Miotti V, Guizzardi, Pontiero, Leoni P, Rambaldi A, Casini M, Angelucci E, Baronciani D, La Nasa G, Milone G, Guidi S, Bosi A, Bacigalupo A, Van Lint MT, Dini G, Corradini P, Milani R, Morra E, Marenco P, Lambretenghi Deliliers G, Onida F, Ciceri F, Marcatti M, Castagna L, Pioltelli P, Selleri C, Zanesco L, Scimè R, Musso M, Alessandrino EP, Locatelli F, Visani G, Di Bartolomeo P, Papineschi F, Favre C, Iori AP, Foà R, Locasciulli A, Majolino I, Majolino P, Leone G, Arcese W, Cerretti R, Carella AM, Cascavilla N, Lauria F, Mazza P, Fanin R, Cerno M, Benedetti F. Nonpermissive HLA-DPB1 disparity is a significant independent risk factor for mortality after unrelated hematopoietic stem cell transplantation. Blood. 2009 Aug 13;114(7):1437-44. Epub 2009 Jun 10. IF: 10,555
  10. Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P. Fontaine-Ferraux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal and central nervous system anomalies. Am J Med Genet A, 149A(10)2193-9,2009. IF: 2,404
  1. Tomaselli S, Megiorni F, De Bernardo C, Megiulli G, Marrocco G, Inzana F, Grammatico B, Felici A, Mazzilli MC, Majore S and Grammatico P. Syndromic true hermaphroditism due to an R-spondin1 (R-SPO1) homozygous mutation. Hum Mutat. 2008 Feb;29(2):220-226 I.F. 7,033
  2. Putignani L, Raffa S, Pescosolido R, Aimati L, Signori F, Torrisi MT, Grammatico P.Alterations of expression levels of the oxidative phosphorilation system (OXPHOS) in breast cancer cell mitochondria. Breast Cancer Res Treat. 110(3):439-452,2008. I.F.: 5,684
  3. Castori M, Rinaldi R, Angelo C, Zambruno G, Grammatico P, Happle R. Phocomatosis cesioflammea with unilateral lipohypoplasia. Am J Med Genet A. Feb 15;146A(4):492-495,2008. I.F.: 2,555
  4. Baldinotti F, Majore S, Fogli A, Marrocco G, Ghiri P, Vuerich M, Tumini S, Boscherini B, Vetri MG, Scommegna S, Rinaldi R, Simi P, Grammatico P. Molecular characterization of six unrelated Italian patients with 5&[alpha]-reductase type 2 deficiency. J Androl. 2008 Jan-Feb;29(1):20-8. Epub 2007 Jul 3. I.F.: 2,396
  5. Castori M, Majore S, Grammatico P, Zambruno G. Association of Segmental Neurofibromatosis 1 and Oculo-Auriculo-Vertebral Spectrum in a 24-Year-Old Female. Eur J Dermatol. 2008 Jan-Feb;18(1):22-5. Epub 2007 Dec 18. I.F.: 1,968
  6. Majore S, , De Simone P, Crisi A, Eibenschutz L, Binni F, Antigoni I, De Bernardo C, Catricalà C, Grammatico P CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. Pigment Cell Melanoma Res. 2008 Apr;21(2):209-11. I.F. 4,634
  7. Castori M, Rinaldi R, Capocaccia P, Roggini M, Grammatico P. VACTERL association and maternal diabetes: a possibile causal relationship? Birth Birth Defects Res A Clin Mol Teratol. Mar;82(3):169-72 2008 Jan 7; [Epub ahead of print] IF: 2,17
  8. Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. A single nucleotide variant in the FMR1 CGG repeat results in a “pseudodeletion” and is not associated with the fragile X sindrome phenotype. J Mol Diagn. 10(3):272-275, 2008. I.F.: 3,643
  9. Castori M, Rinaldi R, Cappellacci S, Grammatico P. Tibial Developmental Field Defect is the most Common Lower Limb Malformation Pattern in VACTERL Association. Am J Med Genet A. May 15;146A(10):1259-66,2008. I.F.: 2,555
  10. Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mancini B, Mazzilli MC, Grammatico P Identification of a novel duplication in the APC gene using multiple ligation probe amplification (MLPA) in a patient with classic FAP. Cancer Genet Cytogenet. 2008 Apr 15;182(2):130-5. I.F: 1,482
  11. Castori M, Covaciu C, Rinaldi R, Grammatico P, Paradisi M. A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser sindrome. J Am Acad Dermatol 59, n. 5, S92-S98, 2008. I.F.: 4,081
  1. Bernardini A, Capalbo A, D’Avanzo MG, Torrente I, Grammatico P, Dell’Edera D, Cavalcanti DP, Novelli A, Dalla piccola B. Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation. Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. I.F.: 1,782
  2. A. Borriello, A. Locasciulli, A.M. Bianco3, M. Criscuolo, V. Conti, P. Grammatico, S. Cappellacci, A Zatterale, F. Morgese, V. Cucciolla, D. Delia, F. Della Ragione, A. Savoia. A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. Leukemia. 2007 Jan;21(1):72-78 I.F. 8,634   
  3. Castori M, Silvestri E, Grammatico P, Dallapiccola B. A triploid fetus further expands etiological heterogenity in holoprosencephaly-diencephalic hamartoblastoma (HDH). Am J Med Genet A. 2007 Jun 15;143(12):1391-3. I.F.: 2,555
  4. Castori M, Rinaldi R, Bianchi A, Caponetti A, Assumma M, Grammatico P. Pai syndromee: first patient with agenesis of the corpus callosum and literature review. Birth Defects Res A Clin Mol Teratol. 79 (10): 673-9, 2007. I.F.: 2,17
  5. D’Elia AV, Pellizzari L, Fabbro D, Pianta A, Dovizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, Damante G A deletion 3' to the PAX6 gene in familial aniridia cases. Mol Vis. 2007 Jul 23;13:1245-50. I.F.: 2,464
  6. Marrocco G, Bruner E, Vallasciani SA, Majore S, Grammatico P. do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population. Journal of Pediatric Urology, 3,477-479,2007.
Sapienza Università di Roma - Azienda Ospedaliera San Camillo Forlanini
Circonvallazione Gianicolense n. 87 - Padiglione Morgagni – I piano
00152 Roma