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Items: 1 to 20 of 222

1.

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
2.

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
3.

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
4.

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. 2017 Dec 13. doi: 10.1007/s00535-017-1423-1. [Epub ahead of print]

PMID:
29238877
5.

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
6.

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
7.

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.

8.

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
9.

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
10.

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. 2017 May 3. doi: 10.1111/bjh.14694. [Epub ahead of print] No abstract available.

PMID:
28466964
11.

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.

PMID:
28240786
12.

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.

13.

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.

14.

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
15.

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.

16.

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
17.

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.

18.

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.

19.

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.

20.

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.

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