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Items: 1 to 50 of 223

1.

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V.

Neurogenetics. 2018 Jul 3. doi: 10.1007/s10048-018-0552-x. [Epub ahead of print]

PMID:
29971521
2.

Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.

Diquigiovanni C, Bergamini C, Evangelisti C, Isidori F, Vettori A, Tiso N, Argenton F, Costanzini A, Iommarini L, Anbunathan H, Pagotto U, Repaci A, Babbi G, Casadio R, Lenaz G, Rhoden KJ, Porcelli AM, Fato R, Bowcock A, Seri M, Romeo G, Bonora E.

Int J Cancer. 2018 Apr 19. doi: 10.1002/ijc.31548. [Epub ahead of print]

PMID:
29672841
3.

INPP4B overexpression and c-KIT downregulation in human achalasia.

Bonora E, Bianco F, Stanzani A, Giancola F, Astolfi A, Indio V, Evangelisti C, Martelli AM, Boschetti E, Lugaresi M, Ioannou A, Torresan F, Stanghellini V, Clavenzani P, Seri M, Moonen A, Van Beek K, Wouters M, Boeckxstaens GE, Zaninotto G, Mattioli S, De Giorgio R.

Neurogastroenterol Motil. 2018 Apr 11:e13346. doi: 10.1111/nmo.13346. [Epub ahead of print]

PMID:
29644781
4.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM.

Am J Hum Genet. 2018 Jan 17. pii: S0002-9297(17)30504-9. doi: 10.1016/j.ajhg.2017.12.015. [Epub ahead of print]

PMID:
29394990
5.

Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.

Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P.

J Gastroenterol. 2018 Aug;53(8):945-958. doi: 10.1007/s00535-017-1423-1. Epub 2017 Dec 13.

PMID:
29238877
6.

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.

Tortora G, Wischmeijer A, Berretta P, Alfonsi J, Di Marco L, Barbieri A, Marconi C, Isidori F, Rossi C, Leone O, Di Bartolomeo R, Seri M, Pacini D.

Interact Cardiovasc Thorac Surg. 2017 Nov 1;25(5):813-817. doi: 10.1093/icvts/ivx242.

PMID:
29049801
7.

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S.

Eur J Med Genet. 2018 Jan;61(1):1-7. doi: 10.1016/j.ejmg.2017.10.002. Epub 2017 Oct 9.

PMID:
29024829
8.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. No abstract available.

9.

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

Pelleri MC, Gennari E, Locatelli C, Piovesan A, Caracausi M, Antonaros F, Rocca A, Donati CM, Conti L, Strippoli P, Seri M, Vitale L, Cocchi G.

Genomics. 2017 Oct;109(5-6):391-400. doi: 10.1016/j.ygeno.2017.06.004. Epub 2017 Jun 23.

PMID:
28648597
10.

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Graziano C, Gusson E, Severi G, Isidori F, Wischmeijer A, Brugnara M, Seri M, Rossi C.

Ophthalmic Genet. 2017 Dec;38(6):590-592. doi: 10.1080/13816810.2017.1318927. Epub 2017 May 4. No abstract available.

PMID:
28471317
11.

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Noris P, Marconi C, De Rocco D, Melazzini F, Pippucci T, Loffredo G, Giangregorio T, Pecci A, Seri M, Savoia A.

Br J Haematol. 2018 Jun;181(5):698-701. doi: 10.1111/bjh.14694. Epub 2017 May 3. No abstract available.

PMID:
28466964
12.

Mutations of RUNX1 in families with inherited thrombocytopenia.

De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P.

Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. No abstract available.

13.

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.

Marconi C, Canobbio I, Bozzi V, Pippucci T, Simonetti G, Melazzini F, Angori S, Martinelli G, Saglio G, Torti M, Pastan I, Seri M, Pecci A.

J Hematol Oncol. 2017 Jan 18;10(1):18. doi: 10.1186/s13045-016-0382-y.

14.

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A.

Haematologica. 2016 Nov;101(11):1333-1342. Epub 2016 Jun 30.

15.

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.

Palombo F, Al-Wardy N, Ruscone GA, Oppo M, Kindi MN, Angius A, Al Lamki K, Girotto G, Giangregorio T, Benelli M, Magi A, Seri M, Gasparini P, Cucca F, Sazzini M, Al Khabori M, Pippucci T, Romeo G.

J Hum Genet. 2017 Feb;62(2):259-264. doi: 10.1038/jhg.2016.120. Epub 2016 Oct 13.

PMID:
27734841
16.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

17.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F.

Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9.

PMID:
27612164
18.

Synthesis and characterization of benzodithiophene and benzotriazole-based polymers for photovoltaic applications.

Gedefaw D, Tessarolo M, Bolognesi M, Prosa M, Kroon R, Zhuang W, Henriksson P, Bini K, Wang E, Muccini M, Seri M, Andersson MR.

Beilstein J Org Chem. 2016 Aug 1;12:1629-37. doi: 10.3762/bjoc.12.160. eCollection 2016.

19.

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Pelleri MC, Cicchini E, Locatelli C, Vitale L, Caracausi M, Piovesan A, Rocca A, Poletti G, Seri M, Strippoli P, Cocchi G.

Hum Mol Genet. 2016 Jun 15;25(12):2525-2538. Epub 2016 Apr 22.

20.

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Pippucci T, Licchetta L, Baldassari S, Palombo F, Menghi V, D'Aurizio R, Leta C, Stipa C, Boero G, d'Orsi G, Magi A, Scheffer I, Seri M, Tinuper P, Bisulli F.

Neurol Genet. 2015 May 14;1(1):e5. doi: 10.1212/NXG.0000000000000005. eCollection 2015 Jun.

21.

Prucalopride exerts neuroprotection in human enteric neurons.

Bianco F, Bonora E, Natarajan D, Vargiolu M, Thapar N, Torresan F, Giancola F, Boschetti E, Volta U, Bazzoli F, Mazzoni M, Seri M, Clavenzani P, Stanghellini V, Sternini C, De Giorgio R.

Am J Physiol Gastrointest Liver Physiol. 2016 May 15;310(10):G768-75. doi: 10.1152/ajpgi.00036.2016. Epub 2016 Feb 18.

22.

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Marconi C, Di Buduo CA, Barozzi S, Palombo F, Pardini S, Zaninetti C, Pippucci T, Noris P, Balduini A, Seri M, Pecci A.

Thromb Haemost. 2016 May 2;115(5):1076-9. doi: 10.1160/TH15-11-0884. Epub 2016 Jan 14. No abstract available.

PMID:
26769223
23.

Enhanced Ultraviolet Stability of Air-Processed Polymer Solar Cells by Al Doping of the ZnO Interlayer.

Prosa M, Tessarolo M, Bolognesi M, Margeat O, Gedefaw D, Gaceur M, Videlot-Ackermann C, Andersson MR, Muccini M, Seri M, Ackermann J.

ACS Appl Mater Interfaces. 2016 Jan 27;8(3):1635-43. doi: 10.1021/acsami.5b08255. Epub 2016 Jan 11.

PMID:
26751271
24.

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.

Neri I, Virdi A, Tortora G, Baldassari S, Seri M, Patrizi A.

J Dermatol Sci. 2016 Jan;81(1):63-6. doi: 10.1016/j.jdermsci.2015.10.012. Epub 2015 Nov 2. Review. No abstract available.

PMID:
26596219
25.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.

Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. No abstract available.

PMID:
26297558
26.

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M.

Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015.

27.

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

Godino L, Pompilii E, D'Anna F, Morselli-Labate AM, Nardi E, Seri M, Rizzo N, Pilu G, Turchetti D.

Eur J Hum Genet. 2016 Mar;24(3):331-7. doi: 10.1038/ejhg.2015.116. Epub 2015 May 27.

28.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.

Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M.

EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399.

29.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Erratum in: Hum Mol Genet. 2017 Oct 1;26(19):3868.

30.

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M.

Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14.

PMID:
25597765
31.

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, Stanghellini V, Cogliandro RF, Lindberg G, Mungan Z, Cefle K, Ozcelik T, Palanduz S, Ozturk S, Gedikbasi A, Gori A, Pippucci T, Graziano C, Volta U, Caio G, Barbara G, D'Amato M, Seri M, Katsanis N, Romeo G, De Giorgio R.

Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6.

32.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

33.

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.

Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL.

Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2.

34.

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Magi A, Tattini L, Palombo F, Benelli M, Gialluisi A, Giusti B, Abbate R, Seri M, Gensini GF, Romeo G, Pippucci T.

Bioinformatics. 2014 Oct 15;30(20):2852-9. doi: 10.1093/bioinformatics/btu401. Epub 2014 Jun 24.

PMID:
24966365
35.

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations.

European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI), van Os J, Rutten BP, Myin-Germeys I, Delespaul P, Viechtbauer W, van Zelst C, Bruggeman R, Reininghaus U, Morgan C, Murray RM, Di Forti M, McGuire P, Valmaggia LR, Kempton MJ, Gayer-Anderson C, Hubbard K, Beards S, Stilo SA, Onyejiaka A, Bourque F, Modinos G, Tognin S, Calem M, O'Donovan MC, Owen MJ, Holmans P, Williams N, Craddock N, Richards A, Humphreys I, Meyer-Lindenberg A, Leweke FM, Tost H, Akdeniz C, Rohleder C, Bumb JM, Schwarz E, Alptekin K, Üçok A, Saka MC, Atbaşoğlu EC, Gülöksüz S, Gumus-Akay G, Cihan B, Karadağ H, Soygür H, Cankurtaran EŞ, Ulusoy S, Akdede B, Binbay T, Ayer A, Noyan H, Karadayı G, Akturan E, Ulaş H, Arango C, Parellada M, Bernardo M, Sanjuán J, Bobes J, Arrojo M, Santos JL, Cuadrado P, Rodríguez Solano JJ, Carracedo A, García Bernardo E, Roldán L, López G, Cabrera B, Cruz S, Díaz Mesa EM, Pouso M, Jiménez E, Sánchez T, Rapado M, González E, Martínez C, Sánchez E, Olmeda MS, de Haan L, Velthorst E, van der Gaag M, Selten JP, van Dam D, van der Ven E, van der Meer F, Messchaert E, Kraan T, Burger N, Leboyer M, Szoke A, Schürhoff F, Llorca PM, Jamain S, Tortelli A, Frijda F, Vilain J, Galliot AM, Baudin G, Ferchiou A, Richard JR, Bulzacka E, Charpeaud T, Tronche AM, De Hert M, van Winkel R, Decoster J, Derom C, Thiery E, Stefanis NC, Sachs G, Aschauer H, Lasser I, Winklbaur B, Schlögelhofer M, Riecher-Rössler A, Borgwardt S, Walter A, Harrisberger F, Smieskova R, Rapp C, Ittig S, Soguel-dit-Piquard F, Studerus E, Klosterkötter J, Ruhrmann S, Paruch J, Julkowski D, Hilboll D, Sham PC, Cherny SS, Chen EY, Campbell DD, Li M, Romeo-Casabona CM, Emaldi Cirión A, Urruela Mora A, Jones P, Kirkbride J, Cannon M, Rujescu D, Tarricone I, Berardi D, Bonora E, Seri M, Marcacci T, Chiri L, Chierzi F, Storbini V, Braca M, Minenna MG, Donegani I, Fioritti A, La Barbera D, La Cascia CE, Mulè A, Sideli L, Sartorio R, Ferraro L, Tripoli G, Seminerio F, Marinaro AM, McGorry P, Nelson B, Amminger GP, Pantelis C, Menezes PR, Del-Ben CM, Gallo Tenan SH, Shuhama R, Ruggeri M, Tosato S, Lasalvia A, Bonetto C, Ira E, Nordentoft M, Krebs MO, Barrantes-Vidal N, Cristóbal P, Kwapil TR, Brietzke E, Bressan RA, Gadelha A, Maric NP, Andric S, Mihaljevic M, Mirjanic T.

Schizophr Bull. 2014 Jul;40(4):729-36. doi: 10.1093/schbul/sbu069. Epub 2014 May 24. Review.

36.

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC, Maestrini E, Seri M, Romeo G.

EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. Erratum in: EMBO Mol Med. 2014 Dec;6(12):1639.

37.

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G.

Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.

PMID:
24727570
38.

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).

Magini P, Bisulli F, Baldassari S, Stipa C, Naldi I, Licchetta L, Menghi V, Tinuper P, Seri M, Pippucci T.

Epilepsy Res. 2014 Jul;108(5):972-7. doi: 10.1016/j.eplepsyres.2014.03.005. Epub 2014 Mar 26.

PMID:
24721199
39.

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

Moghadam KK, Pizza F, Tonon C, Lodi R, Carelli V, Poli F, Franceschini C, Barboni P, Seri M, Ferrari S, La Morgia C, Testa C, Cornelio F, Liguori R, Winkelmann J, Lin L, Mignot E, Plazzi G.

Sleep Med. 2014 May;15(5):582-5. doi: 10.1016/j.sleep.2013.09.028. Epub 2014 Feb 12.

PMID:
24709307
40.

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari S, Seri M, Gonçalves Silva GE, Tinuper P, Pippucci T.

Epilepsia. 2014 Jun;55(6):841-8. doi: 10.1111/epi.12560. Epub 2014 Mar 1.

41.

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M.

Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19.

PMID:
24556213
42.

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C.

Am J Med Genet A. 2014 Mar;164A(3):685-90. doi: 10.1002/ajmg.a.36361. Epub 2013 Dec 20.

PMID:
24376033
43.

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T, Parmeggiani A, Palombo F, Maresca A, Angius A, Crisponi L, Cucca F, Liguori R, Valentino ML, Seri M, Carelli V.

PLoS One. 2013 Dec 16;8(12):e82154. doi: 10.1371/journal.pone.0082154. eCollection 2013.

44.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

PMID:
24186861
45.

EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF.

Genome Biol. 2013;14(10):R120.

46.

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, Parmeggiani G, Seri M, Baroncini A.

Prenat Diagn. 2014 Jan;34(1):71-4.

PMID:
24166136
47.

ANKRD26-related thrombocytopenia and myeloid malignancies.

Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL.

Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. No abstract available.

48.

Double-bundle "all-inside" posterior cruciate ligament reconstruction.

Slullitel D, Galan H, Ojeda V, Seri M.

Arthrosc Tech. 2012 Aug 3;1(2):e141-8. doi: 10.1016/j.eats.2012.05.006. Print 2012 Dec.

49.

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.

Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P.

Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Erratum in: Epilepsia. 2013 Sep;54(9):1709.

50.

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL.

Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29.

PMID:
23554019

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