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Items: 1 to 50 of 198

1.

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.

Cesaro S, Pegoraro A, Sainati L, Lucidi V, Montemitro E, Corti P, Ramenghi U, Nasi C, Menna G, Zecca M, Danesino C, Nicolis E, Pasquali F, Perobelli S, Tridello G, Farruggia P, Cipolli M.

J Pediatr. 2020 Feb 6. pii: S0022-3476(19)31720-2. doi: 10.1016/j.jpeds.2019.12.041. [Epub ahead of print]

PMID:
32037152
2.

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.

Khan AW, Minelli A, Frattini A, Montalbano G, Bogni A, Fabbri M, Porta G, Acquati F, Pinto RM, Bergami E, Mura R, Pegoraro A, Cesaro S, Cipolli M, Zecca M, Danesino C, Locatelli F, Maserati E, Pasquali F, Valli R.

Mol Cytogenet. 2020 Jan 2;13:1. doi: 10.1186/s13039-019-0466-9. eCollection 2020.

3.

18F-fluorodexyglucose Position Emission Tomography identifies altered brain metabolism in patients with Cri du Chat syndrome.

Cistaro A, Quartuccio N, Piccardo A, Fania P, Spunton M, Liava A, Danesino C, Albani G, Guala A.

J Nucl Med. 2019 Dec 13. pii: jnumed.119.236893. doi: 10.2967/jnumed.119.236893. [Epub ahead of print]

PMID:
31836684
4.

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

Hodgson J, Swietlik EM, Salmon RM, Hadinnapola C, Nikolic I, Wharton J, Guo J, Liley J, Haimel M, Bleda M, Southgate L, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, Lawrie A, MacKenzie Ross RV, Moledina S, Montani D, Olschewski A, Olschewski H, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Trembath RC, Vonk Noordegraaf A, Wort SJ, Wilkins MR, Yu PB, Li W, Gräf S, Upton PD, Morrell NW.

Am J Respir Crit Care Med. 2019 Oct 29. doi: 10.1164/rccm.201906-1141OC. [Epub ahead of print]

PMID:
31661308
5.

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

Spunton M, Guala A, Liverani ME, Medolago L, Tognon F, Casado F, Del Valle M, Porras J, Larrea I, Porta G, Albani G, Nevado J, Danesino C.

Am J Med Genet A. 2019 Aug;179(8):1525-1530. doi: 10.1002/ajmg.a.61259. Epub 2019 Jun 12.

PMID:
31187941
6.

Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Liverani ME, Spano A, Danesino C, Malacarne M, Cavani S, Spunton M, Guala A.

Pediatr Rep. 2019 Feb 26;11(1):7839. doi: 10.4081/pr.2019.7839. eCollection 2019 Feb 26.

7.

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.

Cipolli M, Tridello G, Micheletto A, Perobelli S, Pintani E, Cesaro S, Maserati E, Nicolis E, Danesino C; Italian Registry Organization.

BMJ Open. 2019 Jan 17;9(1):e022617. doi: 10.1136/bmjopen-2018-022617.

8.

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

Ruiz-Llorente L, Chiapparino E, Plumitallo S, Danesino C, Bayrak-Toydemir P, Pagella F, Manfredi G, Bernabeu C, Jovine L, Olivieri C.

Gene. 2019 May 15;696:33-39. doi: 10.1016/j.gene.2019.02.016. Epub 2019 Feb 11.

PMID:
30763665
9.

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.

Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E.

Br J Haematol. 2019 Mar;184(6):974-981. doi: 10.1111/bjh.15729. Epub 2018 Dec 26.

PMID:
30585299
10.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J, Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Soubrier F, Trégouët DA, Prokopenko I, Kittles R, Gräf S, Nichols WC, Trembath RC, Desai AA, Morrell NW, Wilkins MR; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium.

Lancet Respir Med. 2019 Mar;7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0. Epub 2018 Dec 5.

11.

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.

Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A.

Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. No abstract available.

PMID:
30198570
12.

Rapunzel syndrome: how to orient the diagnosis.

Finale E, Franceschini P, Danesino C, Barbaglia M, Guala A.

Pediatr Rep. 2018 Jun 27;10(2):7689. doi: 10.4081/pr.2018.7689. eCollection 2018 May 24.

13.

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.

Greco A, Plumitallo S, Scelsi L, Maggi G, Sobrero M, Turco A, Raineri C, Arseni N, Cappelletti D, Visconti LO, Pagella F, Spinozzi G, Ghio S, Olivieri C, Danesino C.

Pulm Circ. 2018 Oct-Dec;8(4):2045894018782664. doi: 10.1177/2045894018782664. Epub 2018 May 25.

14.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW.

Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.

15.

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

Plumitallo S, Ruiz-Llorente L, Langa C, Morini J, Babini G, Cappelletti D, Scelsi L, Greco A, Danesino C, Bernabeu C, Olivieri C.

Gene. 2018 Mar 20;647:85-92. doi: 10.1016/j.gene.2018.01.007. Epub 2018 Jan 4.

PMID:
29305977
16.

Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.

Bezzerri V, Bardelli D, Morini J, Vella A, Cesaro S, Sorio C, Biondi A, Danesino C, Farruggia P, Assael BM, D'amico G, Cipolli M.

Am J Hematol. 2018 Aug;93(4):527-536. doi: 10.1002/ajh.25025. Epub 2018 Feb 9.

17.

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Pichiecchio A, Sacco S, De Filippi P, Caverzasi E, Ravaglia S, Bastianello S, Danesino C.

J Neurol. 2017 Oct;264(10):2110-2118. doi: 10.1007/s00415-017-8601-1. Epub 2017 Aug 30.

PMID:
28856460
18.

Neoplasia in Cri du Chat Syndrome from Italian and German Databases.

Guala A, Spunton M, Kalantari S, Kennerknecht I, Danesino C.

Case Rep Genet. 2017;2017:5181624. doi: 10.1155/2017/5181624. Epub 2017 Apr 24.

19.

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.

Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C.

ScientificWorldJournal. 2016;2016:3125283. doi: 10.1155/2016/3125283. Epub 2016 Nov 28.

20.

Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia.

Colombo G, Bortolotti F, Chiapponi V, Buttini F, Sonvico F, Invernizzi R, Quaglia F, Danesino C, Pagella F, Russo P, Bettini R, Colombo P, Rossi A.

Int J Pharm. 2016 Nov 30;514(1):229-237. doi: 10.1016/j.ijpharm.2016.07.002.

21.

Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.

Nacci L, Valli R, Maria Pinto R, Zecca M, Cipolli M, Morini J, Cesaro S, Boveri E, Rosti V, Corti P, Ambroni M, Pasquali F, Danesino C, Maserati E, Minelli A.

Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21.

PMID:
27553422
22.

Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.

Minelli A, Nacci L, Valli R, Pietrocola G, Ramenghi U, Locatelli F, Brescia L, Nicolis E, Cipolli M, Danesino C.

Blood Cells Mol Dis. 2016 Sep;60:33-5. doi: 10.1016/j.bcmd.2016.06.007. Epub 2016 Jun 22. No abstract available.

23.

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.

Bresolin S, De Filippi P, Vendemini F, D'Alia M, Zecca M, Meyer LH, Danesino C, Locatelli F, Masetti R, Basso G, Te Kronnie G.

Oncotarget. 2016 May 17;7(20):28914-9. doi: 10.18632/oncotarget.8016.

24.

Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.

Invernizzi R, Quaglia F, Klersy C, Pagella F, Ornati F, Chu F, Matti E, Spinozzi G, Plumitallo S, Grignani P, Olivieri C, Bastia R, Bellistri F, Danesino C, Benazzo M, Balduini CL.

Lancet Haematol. 2015 Nov;2(11):e465-73. doi: 10.1016/S2352-3026(15)00195-7. Epub 2015 Oct 27.

25.

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti MC, Biondi A, Fagioli F, Moretta L, Griffiths GM, Luzzatto L, Aricò M.

J Allergy Clin Immunol. 2016 Jan;137(1):188-196.e4. doi: 10.1016/j.jaci.2015.06.048. Epub 2015 Sep 2.

26.

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.

Guala A, Peruzzi C, Gennaro E, Pennese L, Danesino C.

Am J Med Genet A. 2015 May;167A(5):1165-7. doi: 10.1002/ajmg.a.36990. No abstract available.

PMID:
25885068
27.

Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.

Morini J, Babini G, Mariotti L, Baiocco G, Nacci L, Maccario C, Rößler U, Minelli A, Savio M, Gomolka M, Kulka U, Ottolenghi A, Danesino C.

Radiat Prot Dosimetry. 2015 Sep;166(1-4):95-100. doi: 10.1093/rpd/ncv152. Epub 2015 Apr 12.

PMID:
25870433
28.

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients.

Guala A, Spunton M, Mainardi PC, Emmig U, Acucella G, Danesino C.

Am J Med Genet A. 2015 May;167A(5):1168-70. doi: 10.1002/ajmg.a.36992. Epub 2015 Mar 28. No abstract available.

PMID:
25820652
29.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17.

PMID:
25783438
30.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.

J Neurol. 2015;262(4):968-78. doi: 10.1007/s00415-015-7664-0. Epub 2015 Feb 12.

PMID:
25673129
31.

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.

Massa M, Canzonieri C, Campanelli R, Ornati F, Fois G, Pagella F, Matti E, Buscarini E, Danesino C, Rosti V, Olivieri C.

Int J Hematol. 2015 Jan;101(1):23-31. doi: 10.1007/s12185-014-1698-4. Epub 2014 Dec 3.

PMID:
25465912
32.

Genotype-phenotype correlation in Pompe disease, a step forward.

De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C.

Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z.

33.

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

Parenti G, Fecarotta S, la Marca G, Rossi B, Ascione S, Donati MA, Morandi LO, Ravaglia S, Pichiecchio A, Ombrone D, Sacchini M, Pasanisi MB, De Filippi P, Danesino C, Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G.

Mol Ther. 2014 Nov;22(11):2004-12. doi: 10.1038/mt.2014.138. Epub 2014 Jul 23.

34.

Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography.

Velthuis S, Buscarini E, Mager JJ, Vorselaars VM, van Gent MW, Gazzaniga P, Manfredi G, Danesino C, Diederik AL, Vos JA, Gandolfi S, Snijder RJ, Westermann CJ, Post MC.

Eur Respir J. 2014 Jul;44(1):150-9. doi: 10.1183/09031936.00133713. Epub 2014 Mar 6.

35.

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.

Nacci L, Danesino C, Sainati L, Longoni D, Poli F, Cipolli M, Perobelli S, Nicolis E, Cannioto Z, Morini J, Valli R, Pasquali F, Minelli A.

Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1. No abstract available.

PMID:
24484588
36.

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Maggi L, Salerno F, Bragato C, Saredi S, Blasevich F, Maccagnano E, Pasanisi B, Danesino C, Mora M, Morandi L.

Acta Myol. 2013 Oct;32(2):85-90.

37.

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.

Cesaro S, De Filippi P, Di Meglio A, Leszl A, Donska S, Zaccaron A, Cagioni C, Galavotti R, Danesino C, Aprili F, Cugno C, te Kronnie G, Zecca M, Bresolin S.

Int J Hematol. 2014 Feb;99(2):208-12. doi: 10.1007/s12185-013-1489-3. Epub 2013 Dec 12.

PMID:
24338706
38.

Narrow-band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients.

Pagella F, Pusateri A, Chu F, Caputo M, Danesino C, Matti E.

Laryngoscope. 2013 Dec;123(12):2967-8. doi: 10.1002/lary.24338. Epub 2013 Sep 19. No abstract available.

PMID:
23929661
39.

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, Danesino C, Perego M, Olivieri C.

Genet Med. 2014 Jan;16(1):3-10. doi: 10.1038/gim.2013.62. Epub 2013 May 30.

PMID:
23722869
40.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.

Boeri L, Radi O, Canzonieri C, Buscarini E, Scatigno A, Minelli A, Ornati F, Pagella F, Danesino C, Olivieri C.

Mol Syndromol. 2013 Mar;4(3):119-24. doi: 10.1159/000347029. Epub 2013 Feb 28.

41.

Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis.

Draghi F, Presazzi A, Danesino GM, de Matthaeis N, Rapaccini GL, Danesino C.

J Ultrasound. 2012 Sep;15(3):164-70. doi: 10.1016/j.jus.2012.04.001. Epub 2012 Apr 20.

42.

Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association.

Velthuis S, Buscarini E, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Schonewille WJ, Westermann CJJ, Snijder RJ, Mager JJ, Post MC.

Chest. 2013 Aug;144(2):542-548. doi: 10.1378/chest.12-1599.

PMID:
23429940
43.

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds.

Pagella F, Matti E, Chu F, Pusateri A, Tinelli C, Olivieri C, Canzonieri C, Boeri L, Ornati F, Danesino C.

Acta Otolaryngol. 2013 Feb;133(2):174-80. doi: 10.3109/00016489.2012.718097. Epub 2012 Oct 15.

PMID:
23066781
44.

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

Guala A, Massa P, Foscolo AM, Olivero F, Van Maldergem L, Danesino C.

Clin Dysmorphol. 2013 Jan;22(1):29-32. doi: 10.1097/MCD.0b013e3283590b04. No abstract available.

PMID:
23011585
45.

Incidence of Shwachman-Diamond syndrome.

Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. No abstract available.

PMID:
22887728
46.

Early onset of a nasal perivascular epithelioid cell neoplasm not related to tuberous sclerosis complex.

Gana S, Morbini P, Giourgos G, Matti E, Chu F, Danesino C, Pagella F.

Acta Otorhinolaryngol Ital. 2012 Jun;32(3):198-201.

47.

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

Ravaglia S, De Filippi P, Pichiecchio A, Ponzio M, Saeidi Garaghani K, Poloni GU, Bini P, Danesino C.

Mol Genet Metab. 2012 Sep;107(1-2):104-10. doi: 10.1016/j.ymgme.2012.05.016. Epub 2012 May 30.

PMID:
22704482
48.

Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.

Necchi V, Minelli A, Sommi P, Vitali A, Caruso R, Longoni D, Frau MR, Nasi C, De Gregorio F, Zecca M, Ricci V, Danesino C, Solcia E.

Haematologica. 2012 Jul;97(7):1057-63. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22.

49.

Epidermal growth factor receptor overexpression/amplification in adenocarcinomas arising in the gastrointestinal tract.

Rossi E, Villanacci V, Danesino C, Donato F, Nascimbeni R, Bassotti G.

Rev Esp Enferm Dig. 2011 Dec;103(12):632-9. English, Spanish.

PMID:
22217347
50.

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.

De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V, Carlo-Stella C, Zavras N, Cagioni C, Zuffardi O, Pagliara D, Danesino C, Locatelli F.

Pediatr Blood Cancer. 2012 Sep;59(3):580-2. doi: 10.1002/pbc.23401. Epub 2011 Dec 19.

PMID:
22183880

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