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Items: 1 to 50 of 67

1.

ADA2 deficiency due to a novel structural variation in 22q11.1.

Grossi A, Cusano R, Rusmini M, Penco F, Schena F, Podda RA, Caorsi R, Gattorno M, Uva P, Ceccherini I.

Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28. No abstract available.

PMID:
30920658
2.

How teachers can help learners build storage and retrieval strength.

Desy J, Busche K, Cusano R, Veale P, Coderre S, McLaughlin K.

Med Teach. 2018 Apr;40(4):407-413. doi: 10.1080/0142159X.2017.1408900. Epub 2017 Dec 21.

PMID:
29262746
3.

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia.

Caocci G, Greco M, Arras M, Cusano R, Orrù S, Martino B, Abruzzese E, Galimberti S, Mulas O, Trucas M, Littera R, Lai S, Carcassi C, La Nasa G.

Leuk Res. 2017 Oct;61:1-5. doi: 10.1016/j.leukres.2017.08.005. Epub 2017 Aug 18.

PMID:
28841441
4.

KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation.

Littera R, Piredda G, Argiolas D, Lai S, Congeddu E, Ragatzu P, Melis M, Carta E, Michittu MB, Valentini D, Cappai L, Porcella R, Alba F, Serra M, Loi V, Maddi R, Orrù S, La Nasa G, Caocci G, Cusano R, Arras M, Frongia M, Pani A, Carcassi C.

PLoS One. 2017 Jul 7;12(7):e0180831. doi: 10.1371/journal.pone.0180831. eCollection 2017.

5.

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F.

N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528.

6.

Population- and individual-specific regulatory variation in Sardinia.

Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB.

Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10.

7.

Weighing the cost of educational inflation in undergraduate medical education.

Cusano R, Busche K, Coderre S, Woloschuk W, Chadbolt K, McLaughlin K.

Adv Health Sci Educ Theory Pract. 2017 Aug;22(3):789-796. doi: 10.1007/s10459-016-9708-3. Epub 2016 Aug 23.

PMID:
27552815
8.

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation.

Marongiu M, Deiana M, Marcia L, Sbardellati A, Asunis I, Meloni A, Angius A, Cusano R, Loi A, Crobu F, Fotia G, Cucca F, Schlessinger D, Crisponi L.

Dev Biol. 2016 Aug 1;416(1):200-211. doi: 10.1016/j.ydbio.2016.05.022. Epub 2016 May 19.

9.

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, Angius A, Cucca F, Cottoni F, Crisponi L.

Metabolism. 2015 Nov;64(11):1530-40. doi: 10.1016/j.metabol.2015.07.022. Epub 2015 Aug 1. Review.

PMID:
26350127
10.

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
11.

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A.

Orsini M, Costelli C, Malavasi V, Cusano R, Concas A, Angius A, Cao G.

Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Sep;27(5):3128-30. doi: 10.3109/19401736.2015.1007297. Epub 2015 Feb 18.

PMID:
25690053
12.

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana.

Orsini M, Costelli C, Malavasi V, Cusano R, Concas A, Angius A, Cao G.

Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(2):1539-41. doi: 10.3109/19401736.2014.953128. Epub 2014 Sep 4.

PMID:
25186028
13.

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Orsini M, Cusano R, Costelli C, Malavasi V, Concas A, Angius A, Cao G.

Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(2):838-9. doi: 10.3109/19401736.2014.919466. Epub 2014 May 27.

PMID:
24865923
14.

Genetic variants regulating immune cell levels in health and disease.

Orrù V, Steri M, Sole G, Sidore C, Virdis F, Dei M, Lai S, Zoledziewska M, Busonero F, Mulas A, Floris M, Mentzen WI, Urru SA, Olla S, Marongiu M, Piras MG, Lobina M, Maschio A, Pitzalis M, Urru MF, Marcelli M, Cusano R, Deidda F, Serra V, Oppo M, Pilu R, Reinier F, Berutti R, Pireddu L, Zara I, Porcu E, Kwong A, Brennan C, Tarrier B, Lyons R, Kang HM, Uzzau S, Atzeni R, Valentini M, Firinu D, Leoni L, Rotta G, Naitza S, Angius A, Congia M, Whalen MB, Jones CM, Schlessinger D, Abecasis GR, Fiorillo E, Sanna S, Cucca F.

Cell. 2013 Sep 26;155(1):242-56. doi: 10.1016/j.cell.2013.08.041.

15.

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.

Francalacci P, Morelli L, Angius A, Berutti R, Reinier F, Atzeni R, Pilu R, Busonero F, Maschio A, Zara I, Sanna D, Useli A, Urru MF, Marcelli M, Cusano R, Oppo M, Zoledziewska M, Pitzalis M, Deidda F, Porcu E, Poddie F, Kang HM, Lyons R, Tarrier B, Gresham JB, Li B, Tofanelli S, Alonso S, Dei M, Lai S, Mulas A, Whalen MB, Uzzau S, Jones C, Schlessinger D, Abecasis GR, Sanna S, Sidore C, Cucca F.

Science. 2013 Aug 2;341(6145):565-9. doi: 10.1126/science.1237947.

16.

Molecular characterization of an Italian series of sporadic GISTs.

Origone P, Gargiulo S, Mastracci L, Ballestrero A, Battistuzzi L, Casella C, Comandini D, Cusano R, Dei Tos AP, Fiocca R, Garuti A, Ghiorzo P, Martinuzzi C, Toffolatti L; Liguria GIST Unit, Bianchi Scarrà G.

Gastric Cancer. 2013 Oct;16(4):596-601. doi: 10.1007/s10120-012-0213-y. Epub 2013 Jan 5.

PMID:
23291969
17.

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J, Pippucci T, Merlini A, Marchetti C, Rhoden KJ, Galietta LJ, Lalatta F, Balbi P, Seri M.

Eur J Hum Genet. 2013 Jun;21(6):613-9. doi: 10.1038/ejhg.2012.224. Epub 2012 Oct 10.

18.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P.

Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.

PMID:
19728162
19.

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB.

Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944.

PMID:
19533801
20.

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.

Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M.

Eur J Neurol. 2008 May;15(5):520-4. doi: 10.1111/j.1468-1331.2008.02117.x.

PMID:
18394049
21.

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.

Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarrà GB.

Hum Mol Genet. 2006 Sep 15;15(18):2682-9. Epub 2006 Aug 7.

PMID:
16893909
22.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.

Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F.

Prenat Diagn. 2006 May;26(5):487-9. No abstract available.

PMID:
16652396
23.

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG.

Clin Gastroenterol Hepatol. 2006 May;4(5):653-9.

PMID:
16630773
24.

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Gangarossa S, Seri M, Pecci A, Di Bari F, Cusano R, Balduini C, Gasparini P, Savoia A.

Int J Mol Med. 2005 Sep;16(3):437-41.

PMID:
16077952
25.

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB.

Child Care Health Dev. 2005 May;31(3):351-4.

PMID:
15840155
26.

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.

Hum Mutat. 2005 Mar;25(3):322-3.

PMID:
15712338
27.

Novel MC1R variants in Ligurian melanoma patients and controls.

Pastorino L, Cusano R, Bruno W, Lantieri F, Origone P, Barile M, Gliori S, Shepherd GA, Sturm RA, Bianchi-Scarra G.

Hum Mutat. 2004 Jul;24(1):103. Erratum in: Hum Mutat. 2004 Sep;24(3):274. Scarra, Giovanna Bianchi [corrected to Bianchi-Scarra, Giovanna].

PMID:
15221796
28.

INK4/ARF germline alterations in pancreatic cancer patients.

Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, Queirolo P, Sertoli M, Pugliese V, Bianchi-Scarrà G.

Ann Oncol. 2004 Jan;15(1):70-8.

PMID:
14679123
29.

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer.

Giacopelli F, Rosatto N, Divizia MT, Cusano R, Caridi G, Ravazzolo R.

Gene Expr. 2003;11(2):95-104.

30.

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R.

Int J Mol Med. 2003 Jul;12(1):79-82.

PMID:
12792813
31.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A.

Medicine (Baltimore). 2003 May;82(3):203-15.

32.

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

Lo Nigro C, Cusano R, Gigli GL, Forabosco P, Valente M, Ravazzolo R, Diomedi M, Seri M.

Am J Med Genet A. 2003 Mar 1;117A(2):116-21.

PMID:
12567407
33.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G.

Am J Med Genet A. 2003 Mar 1;117A(2):112-5.

PMID:
12567406
34.

Weak linkage at 4p16 to predisposition for human neuroblastoma.

Perri P, Longo L, Cusano R, McConville CM, Rees SA, Devoto M, Conte M, Ferrara GB, Seri M, Romeo G, Tonini GP.

Oncogene. 2002 Nov 28;21(54):8356-60.

35.

MICA gene polymorphisms in an Italian paediatric series of juvenile Behçet disease.

Picco P, Porfirio B, Gattorno M, Buoncompagni A, Falcini F, Cusano R, Bordo D, Pistoia V, Ravazzolo R, Seri M.

Int J Mol Med. 2002 Nov;10(5):575-8.

PMID:
12373294
36.

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M.

Hum Genet. 2002 Sep;111(3):235-41. Epub 2002 Aug 1.

PMID:
12215835
37.

Linkage analysis in families with recurrent neuroblastoma.

Perri P, Longo L, McConville C, Cusano R, Rees SA, Seri M, Conte M, Romeo G, Devoto M, Tonini GP.

Ann N Y Acad Sci. 2002 Jun;963:74-84.

PMID:
12095931
38.

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Fava M, Borghini S, Cinti R, Cusano R, Seri M, Lerone M, De Giorgio R, Stanghellini V, Martucciello G, Ravazzolo R, Ceccherini I.

Int J Mol Med. 2002 Jul;10(1):101-6.

PMID:
12060859
39.

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M.

Hum Genet. 2002 Apr;110(4):351-5. Epub 2002 Mar 8.

PMID:
11941485
40.

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A.

Hum Genet. 2002 Feb;110(2):182-6. Epub 2001 Dec 14.

PMID:
11935325
41.

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.

Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R.

Prenat Diagn. 2001 Aug;21(8):668-71.

PMID:
11536268
42.

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R.

Hum Mutat. 2001 Aug;18(2):164-5.

PMID:
11462244
43.

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A.

Hum Mutat. 2001;18(1):85.

PMID:
11439001
44.

Fontaine-Farriaux craniosynostosis: second report in the literature.

Priolo M, De Toni T, Baffico M, Cama A, Seri M, Cusano R, Costabello L, Fondelli P, Capra V, Silengo M, Ravazzolo R, Lerone M.

Am J Med Genet. 2001 May 1;100(3):214-8.

PMID:
11343306
45.

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.

De Giorgio R, Seri M, Cogliandro R, Cusano R, Fava M, Caroli F, Panetta D, Forabosco P, Barbara G, Ravazzolo R, Ceccherini I, Corinaldesi R, Stanghellini V.

Clin Genet. 2001 Feb;59(2):131-3. No abstract available.

PMID:
11260216
46.

A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S.

Atherosclerosis. 2001 Feb 15;154(3):599-605.

PMID:
11257260
47.

Exclusion of candidate genes and chromosomal regions in familial neuroblastoma.

Tonini GP, McConville C, Cusano R, Rees SA, Dagnino M, Longo L, De Bernardi B, Conte M, Garaventa A, Romeo G, Devoto M, Seri M.

Int J Mol Med. 2001 Jan;7(1):85-9.

PMID:
11115614
48.

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M.

Eur J Hum Genet. 2000 Nov;8(11):895-9.

49.

Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR.

Patrone G, Puppo F, Cusano R, Scaranari M, Ceccherini I, Puliti A, Ravazzolo R.

Biotechniques. 2000 Nov;29(5):1012-4, 1016-7.

50.

A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.

Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra VB, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M.

Eur J Hum Genet. 2000 Oct;8(10):777-82.

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