Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants (130 views visite)
Sci Rep (ISSN: 2045-2322linking), 2019 Jul 19; 9(1): 10519-10519.
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Paper type Tipo di articolo: Journal Article
Impact factor: 5.078, 5-year impact factor Impact factor a 5 anni: 5.078
Url: Not available. Non disponibile.
Keywords Parole chiave: Abnormalities, Multiple Genetics , Amino Acid Substitution , Benzothiazoles Metabolism , Co-Repressor Proteins Genetics Metabolism , External Abnormalities , Dominant , Humans , Hypospadias Genetics , Models, Molecular , Muscle Hypotonia Genetics , Mutation, Missense , Nipples Abnormalities , Point Mutation , Protein Conformation , Protein Denaturation , Protein Domains , Protein Stability , Recombinant Proteins Metabolism , Scalp Abnormalities , Transcription Factor Ap-2 Metabolism
Affiliations Affiliazioni:
*** IBB - CNR ***
IRCCS SDN, Via Gianturco 113, 80143, Napoli, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy., Universita degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy. luigi.vitagliano@unina.it.,
Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Università degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy.
References Riferimenti:
Not available. Non disponibili.
Sci Rep (ISSN: 2045-2322linking), 2019 Jul 19; 9(1): 10519-10519.
Export to Esporta in BibTeX Export to Esporta in EndNote
Paper type Tipo di articolo: Journal Article
Impact factor: 5.078, 5-year impact factor Impact factor a 5 anni: 5.078
Url: Not available. Non disponibile.
Keywords Parole chiave: Abnormalities, Multiple Genetics , Amino Acid Substitution , Benzothiazoles Metabolism , Co-Repressor Proteins Genetics Metabolism , External Abnormalities , Dominant , Humans , Hypospadias Genetics , Models, Molecular , Muscle Hypotonia Genetics , Mutation, Missense , Nipples Abnormalities , Point Mutation , Protein Conformation , Protein Denaturation , Protein Domains , Protein Stability , Recombinant Proteins Metabolism , Scalp Abnormalities , Transcription Factor Ap-2 Metabolism
Affiliations Affiliazioni:
*** IBB - CNR ***
IRCCS SDN, Via Gianturco 113, 80143, Napoli, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy., Universita degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy., Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy. luigi.vitagliano@unina.it.,
Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Università degli Studi della Campania "Luigi Vanvitelli", Viale Abramo Lincoln 5, 81100, Caserta, Italy.
References Riferimenti:
Not available. Non disponibili.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/structural basis of SEN insurgence is hitherto unknown. With the aim of unravelling the molecular basis of the SEN syndrome associated with KCTD1 mutations we here expressed and characterized several disease causing mutants. A preliminary dissection of the protein provides insights into the role that individual domains play in KCTD1 stability. The characterization of SEN-causing mutants indicates that, although the mutation sites are located in distant regions of the BTB domain or of the pre-BTB region, all of them are unable to interact with the transcription factor AP-2alpha, a well-known KCTD1 biological partner. Notably, all mutations, including the one located in the pre-BTB region, produce a significant destabilization of the protein. The structural role of the pre-BTB region in KCTD1 and other proteins of the family is corroborated by its sequence conservation in orthologs and paralogs. Interestingly, SEN-causing mutations also favor the tendency of KCTD1 to adopt structural states that are characterized by the ability to bind the beta-amyloid fluorescent dye thioflavin T. The formation of aggregation-prone species may have important implications for the disease etiology. Collectively, these findings provide an intriguing picture of the functional and structural alterations induced by KCTD1 mutations that ultimately lead to disease.
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/structural basis of SEN insurgence is hitherto unknown. With the aim of unravelling the molecular basis of the SEN syndrome associated with KCTD1 mutations we here expressed and characterized several disease causing mutants. A preliminary dissection of the protein provides insights into the role that individual domains play in KCTD1 stability. The characterization of SEN-causing mutants indicates that, although the mutation sites are located in distant regions of the BTB domain or of the pre-BTB region, all of them are unable to interact with the transcription factor AP-2alpha, a well-known KCTD1 biological partner. Notably, all mutations, including the one located in the pre-BTB region, produce a significant destabilization of the protein. The structural role of the pre-BTB region in KCTD1 and other proteins of the family is corroborated by its sequence conservation in orthologs and paralogs. Interestingly, SEN-causing mutations also favor the tendency of KCTD1 to adopt structural states that are characterized by the ability to bind the beta-amyloid fluorescent dye thioflavin T. The formation of aggregation-prone species may have important implications for the disease etiology. Collectively, these findings provide an intriguing picture of the functional and structural alterations induced by KCTD1 mutations that ultimately lead to disease.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
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Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
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Berisio R, Corti N, Pfister P, Yonath A, Böttger EC
* 23S rRNA 2058A→G alteration mediates ketolide resistance in combination with deletion in L22 (310 visite)
Antimicrob Agents Ch (ISSN: 0066-4804, 1098-6596), 2006 Nov; 50(11): 3816-3823.
Impact Factor: 4.153
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Santamaria F, Montella S, Camera L, Palumbo C, Greco L, Boner AL
* Lung structure abnormalities, but normal lung function in pediatric bronchiectasis (373 visite)
Chest (ISSN: 0012-3692), 2006 Sep; 130(2): 480-486.
Impact Factor: 3.924
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Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M, De Robertis V, Buonadonna AL, Caruso G, Gentile M
* Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus (338 visite)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2006 May; 27(5): 509-516.
Impact Factor: 2.288
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Fiory F, Alberobello AT, Miele C, Oriente F, Esposito I, Corbo V, Ruvo M, Tizzano B, Rasmussen TE, Gammeltoft S, Formisano P, Beguinot F
* Tyrosine phosphorylation of phosphoinositide-dependent kinase 1 by the insulin receptor is necessary for insulin metabolic signaling (439 visite)
Mol Cell Biol (ISSN: 0270-7306, 1098-5549), 2005 Dec; 25(24): 10803-10814.
Impact Factor: 7.093
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Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (292 visite)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
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Picone D, Di Fiore A, Ercole C, Franzese M, Sica F, Tomaselli S, Mazzarella L
* The role of the hinge loop in domain swapping - The special case of bovine seminal ribonuclease (347 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2005 Apr 8; 280(14): 13771-13778.
Impact Factor: 5.854
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Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F
* Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (317 visite)
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.
Impact Factor: 10.131
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Langella E, Improta R, Barone V
* Checking the pH-induced conformational transition of prion protein by molecular dynamics simulations: Effect of protonation of histidine residues (334 visite)
Biophysical Journal (ISSN: 0006-3495, 1542-0086), 2004 Dec; 87(6): 3623-3632.
Impact Factor: 4.585
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Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F
* Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function (329 visite)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2004 May 15; 380: 51-56.
Impact Factor: 4.278
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Milardi D, Grasso DM, Verbeet MP, Canters GW, La Rosa C
* Thermodynamic analysis of the contributions of the copper ion and the disulfide bridge to azurin stability: Synergism among multiple depletions (312 visite)
Arch Biochem Biophys (ISSN: 0003-9861), 2003 Jun 1; 414(1): 121-127.
Impact Factor: 2.338
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Dathan N, Zaccaro L, Esposito S, Isernia C, Omichinski JG, Riccio A, Pedone C, Di Blasio B, Fattorusso R, Pedone PV
* The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys(2)-His(2) zinc finger motif (475 visite)
Nucleic Acids Res (ISSN: 0305-1048, 1362-4962, 1362-4962electronic), 2002 Nov 15; 30(22): 4945-4951.
Impact Factor: 7.051
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Rossi M, Manfredi V, Ruvo M, Fassina G, Verdoliva A
* Sequence-simplification and chimeric assembly: New models of peptide antigen modification (358 visite)
Mol Immunol (ISSN: 0161-5890), 2002 Nov; 39(7-8): 443-451.
Impact Factor: 2.414
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Masullo M, Cantiello P, Paola B, Fiengo A, Vitagliano L, Zagari A, Arcari P
* Valine114 Replacements In The Archaeal Elongation Factor 1a Enhanced Its Ability To Interact With Aminoacyl-Trna And Kirromycin (327 visite)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2002; 41(49): 14482-14488.
Impact Factor: 4.064
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De Falco S, Ruvoletto MG, Verdoliva A, Ruvo M, Raucci A, Marino M, Senatore S, Cassani G, Alberti A, Pontisso P, Fassina G
* Cloning and Expression of a Novel Hepatitis B Virus-binding Protein from HepG2 Cells (573 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2001 Sep 28; 276(39): 36613-36623.
Impact Factor: 7.258
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Orru S, Vitagliano L, Esposito L, Mazzarella L, Marino G, Ruoppolo M
Effect of deamidation on folding of ribonuclease (339 visite)
Protein Sci (ISSN: 0961-8368, 1469-896xelectronic), 2000 Dec; 9(12): 2577-2582.
Impact Factor: 3.869
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Oliva R, Falcigno L, D'Auria G, Zanotti G, Paolillo L
Conformation and calcium-binding properties of a bicyclic nonapeptide (330 visite)
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2000; 56(1): 27-36.
Impact Factor: 2.405
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Martínez JC, Viguera AR, Berisio R, Wilmanns M, Mateo PL, Filimonov VV, Serrano L
Thermodynamic analysis of α-spectrin SH3 and two of its circular permutants with different loop lengths: Discerning the reasons for rapid folding in proteins (353 visite)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 1999 Jan 12; 38(2): 549-559.
Impact Factor: 4.493
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Capasso S, Di Donato A, Esposito L, Sica F, Sorrentino G, Vitagliano L, Zagari A, Mazzarella L
Deamidation in proteins: The crystal structure of bovine pancreatic ribonuclease with an isoaspartyl residue at position 67 (401 visite)
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 1996; 257(3): 492-496.
Impact Factor: 5.673
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Lastoria S, Piccolo S, Varrella P, Acampa W, Mainolfi C, Vergara E, Wang H, Muto P, Salvatore M
Comparative results of Tc-99m MIBI and Tc-99m MDP scintimammography in patients with breast abnormalities (182 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 1995; 36(5SUPPL.): N/D-N/D.
Impact Factor: 3.491
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d'Onofrio G, Salvati AM, Berti P, Cappabianca MP, Marsili G, Quarantelli M, Zini G, Casini C, De Philippis C, Mango G
Analysis of leucocyte populations with the Coulter S-Plus STKR as a screening tool for haematological abnormalities (280 visite)
Clin Lab Haematol (ISSN: 0141-9854), 1991; 13(1): 51-66.
Impact Factor: 0.362
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66 Records (61 escludendo Abstract e Conferenze).
Impact factor totale: 254.616 (237.86 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 262.694 (239.533 escludendo Abstract e Conferenze).
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Gandhi S, Marr K, Mancini M, Caprio MG, Jakimovski D, Chandra A, Hagemeier J, Hojnacki D, Kolb C, Weinstock-guttman B, Zivadinov R
* No association between variations in extracranial venous anatomy and clinical outcomes in multiple sclerosis patients over 5 years (174 visite)
Bmc Neurol (ISSN: 1471-2377linking, 1471-2377electronic), 2019 Jun 11; 19(1): 121-121.
Impact Factor: 2.17
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Della Corte L, Fabozzi A, Giampaolino P, Saccone G, Pizzuti LM, Romeo V, Maurea S, Bifulco G
* A case of 20-week abortion in a rare communicating rudimentary horn of a misinterpreted unicornuate uterus, incorrectly diagnosed as bicornuate: A serious hazard! (146 visite)
Eur J Obstet Gynecol Reprod Biol (ISSN: 0301-2115linking), 2019 Apr; 235: 133-135.
Impact Factor: 1.809
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Caprio MG, Di Serafino M, De Feo A, Guerriero E, Perillo T, Barbuto L, Vezzali N, Rossi E, Ferro F, Vallone G, Orazi C
* Ultrasonographic and multimodal imaging of pediatric genital female diseases (145 visite) (PDF 88 visite)
J Ultrasound (ISSN: 1876-7931linking, 1876-7931electronic), 2019 Feb 19; 22(3): 273-289.
Impact Factor: 1.547
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Buonanno M, Di Fiore A, Langella E, D’ambrosio K, Supuran CT, Monti SM, De Simone G
* The Crystal Structure of a hCA VII Variant Provides Insights into the Molecular Determinants Responsible for Its Catalytic Behavior (236 visite)
Int J Mol Sc (ISSN: 1661-6596, 1422-0067, 1422-0067electronic), 2018 May; 19(6): 19-24.
Impact Factor: 3.687
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Gaglione R, Smaldone G, Di Girolamo R, Piccoli R, Pedone E, Arciello A
* Cell milieu significantly affects the fate of AApoAI amyloidogenic variants: predestination or serendipity? (313 visite)
Bba-Gen Subjects (ISSN: 0005-2728, 0006-3002print, 1570-9639print), 2017 Nov 23; 1862(3): 377-384.
Impact Factor: 4.28
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Sacchi S, Cappelletti P, Pirone L, Smaldone G, Pedone E, Pollegioni L
* Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility (248 visite)
Febs Lett (ISSN: 1873-3468, 0014-5793, 0014-5793print), 2017 Feb; 591(4): 646-655.
Impact Factor: 2.999
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Giorgio SM, Caprio MG, Galante F, Russo G, Romano A, Vergara E, Alessio M, Cuocolo A
* Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea (256 visite) (PDF 146 visite)
J Child Neurol (ISSN: 0883-0738), 2016 Dec 05; 32(3): 316-321.
Impact Factor: 1.378
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Cocozza S, Canna A, Lanzillo R, Russo C, Postiglione E, Liuzzi R, Vastola M, Brunetti A, Salvatore M, Brescia Morra V, Palma G, Tedeschi E
* Lack of correlation between extracranial venous abnormalities and multiple sclerosis: a quantitative MRI study (262 visite)
The British Institute Of Radiology, 2016 Jun; N/D: N/D-N/D.
Impact Factor: 1.84
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Gandhi S, Mancini M, Marr K, Caprio MG, Jakimovski D, Chandra A, Hagemeier J, Weinstock-guttman B, Zivadinov R
* No association of extra-cranial neous abnormalities and clinical outcomes in multiple sclerosis patients over 5 years (218 visite)
6th Annual Meeting Of The International Society For Neurovascular Disease, 2016 Apr; N/D: N/D-N/D.
Impact Factor: 0
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Vitale R, Lista L, Cerrone C, Caserta G, Chino M, Maglio O, Nastri F, Pavone V, Lombardi A
* An artificial heme-enzyme with enhanced catalytic activity: evolution, functional screening and structural characterization (410 visite)
Org Biomol Chem (ISSN: 1477-0520, 1477-0539, 1477-0539electronic), 2015 Apr 22; 13(17): 4859-4868.
Impact Factor: 3.559
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Canna A, Palma G, Tedeschi E, Cocozza S, Lanzillo R, Russo C, Borrelli P, Postiglione E, Liuzzi R, Criscuolo C, Brescia-Morra V, Mancini M, Salvatore M
* ASSESSING THE CORRELATION BETWEEN IRON DEPOSIT IN THE BASAL GANGLIA AND FLOW ABNORMALITIES IN THE NECK VEINS WITH MRI: PRELIMINARY EXPERIENCE (270 visite)
Veins And Lymphatics (ISSN: 2279-7483), 2015; 4(s1): 20-21.
Impact Factor: 0
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Bisconte MG, Caldora M, Musollino G, Cardiero G, Flagiello A, La Porta G, Lagona L, Prezioso R, Qualtieri G, Gaudiano C, Medulla E, Merlino A, Pucci P, Lacerra G
* α-thalassemia associated with Hb instability: A tale of two features. The case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro (358 visite)
Plosone (ISSN: 1932-6203, 1932-6203electronic), 2015; 10(3): N/D-N/D.
Impact Factor: 3.057
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Assante R, Zampella E, Acampa W, Nappi C, Gaudieri V, Frega N, D'Arienzo D, Tuccillo M, Di Lorenzo P, Buccelli C, Petretta M, Cuocolo A
* Prevalence and severity of myocardial perfusion imaging abnormalities in inmate subjects (275 visite)
Plosone (ISSN: 1932-6203, 1932-6203electronic), 2015; 10(7): N/D-N/D.
Impact Factor: 3.057
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Scognamiglio PL, Morelli G, Marasco D
* Synthetic and structural routes for the rational conversion of peptides into small molecules (430 visite)
Methods Mol Biol (ISSN: 1064-3745, 1940-6029electronic, 1064-3745linking), 2015; 1268: 159-193.
Impact Factor: 3.221
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Paladini D, Quarantelli M, Sglavo G, Pastore G, Cavallaro A, D'Armiento MR, Salvatore M, Nappi C
* Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities (316 visite)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2014 Aug; 44(2): 188-196.
Impact Factor: 3.853
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Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (443 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
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Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
* Parkinsonism may be part of the symptom complex of DOOR syndrome (224 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
Impact Factor: 3.972
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Lin L-L, Chen Y-Y, Chi M-C, Merlino A
* Low resolution X-ray structure of γ-glutamyltranspeptidase from Bacillus licheniformis: Opened active site cleft and a cluster of acid residues potentially involved in the recognition of a metal ion (305 visite)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2014; 1844(9): 1523-1529.
Impact Factor: 4.882
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Paladini D, Quarantelli M, Sglavo G, Pastore G, Cavallaro A, D'Armiento, Salvatore M, Nappi C
* The Role Of Mri In The Clinical Management Of Foetuses With Central Nervous System Abnormalities In A Tertiary Referral Center (286 visite)
Ultrasound Obstet Gynecol John Wiley And Sons Ltd, 2013 Nov 1; N/D: 1002/uog-1002/uog.
Impact Factor: 5.694
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Spagnuolo MS, Di Stasi R, De Rosa L, Maresca B, Cigliano L, D'Andrea LD
* Analysis of the haptoglobin binding region on the apolipoprotein A-I-derived P2a peptide (324 visite)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2013 Apr; 19(4): 220-226.
Impact Factor: 1.862
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Merlino A, Picone D, Ercole C, Balsamo A, Sica F
* Chain termini cross-talk in the swapping process of bovine pancreatic ribonuclease (244 visite)
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2012 May; 94(5): 1108-1118.
Impact Factor: 3.142
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Pica A, Russo Krauss I, Castellano I, Rossi M, La Cara F, Graziano G, Sica F, Merlino A
* Exploring The Unfolding Mechanism Of Gamma-Glutamyltranspeptidases: The Case Of The Thermophilic Enzyme From Geobacillus Thermodenitrificans (346 visite)
Bba-Gen Subjects (ISSN: 1570-9639, 0006-3002, 0925-4439), 2012 Apr; 1824(4): 571-577.
Impact Factor: 3.733
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Galdiero S, Vitiello M, Falanga A, Cantisani M, Incoronato N, Galdiero M
* Intracellular Delivery: Exploiting Viral Membranotropic Peptides (568 visite)
Current Drug Metabolism (ISSN: 1389-2002), 2012 Jan; 13(1): 93-104.
Impact Factor: 4.405
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Janda E, Palmieri C, Pisano A, Pontoriero M, Iaccino E, Falcone C, Fiume G, Gaspari M, Nevolo M, Di Salle E, Rossi A, De Laurentiis A, Greco A, Di Napoli D, Verheij E, Britti D, Lavecchia L, Quinto I, Scala G
* Btk regulation in human and mouse B cells via protein kinase C phosphorylation of IBtkγ (396 visite)
Blood (ISSN: 0006-4971, 0006-6497, 0390-6078), 2011 Jun 16; 117(24): 6520-6531.
Impact Factor: 9.898
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Acampa W, Di Taranto MD, Morgante A, Salvatore B, Evangelista L, Ricci F, Costanzo P, De Sisto E, Filardi PP, Petretta M, Fortunato G, Cuocolo A
* C-reactive protein levels are associated with paraoxonase polymorphism L55M in patients undergoing cardiac SPECT imaging (335 visite)
Scand J Clin Lab Invest (ISSN: 0036-5513, 1502-7686), 2011 May; 71(3): 179-184.
Impact Factor: 1.156
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Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
* Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (342 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Impact Factor: 3.354
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Gautier B, Goncalves V, Diana D, Di Stasi R, Teillet F, Lenoir C, Huguenot F, Garbay C, Fattorusso R, D'Andrea LD, Vidal M, Inguimbert N
* Biochemical and Structural Analysis of the Binding Determinants of a Vascular Endothelial Growth Factor Receptor Peptidic Antagonist (434 visite)
J Med Chem (ISSN: 0022-2623, 1520-4804, 0022-2623print), 2010 Jun 10; 53(11): 4428-4440.
Impact Factor: 5.207
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Alfieri A, Pasanisi F, Salzano S, Esposito L, Martone D, Tafuri D, Daniele A, Contaldo F, Sacchetti L, Zagari A, Buono P
* Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy (378 visite)
Gene (ISSN: 0378-1119), 2010 Jun 1; 457(1-2): 35-41.
Impact Factor: 2.266
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Tosco A, Monti MC, Fontanella B, Montefusco S, D'Andrea LD, Ziaco B, Baldantoni D, Rio MC, Marzullo L
* Copper binds the carboxy-terminus of trefoil protein 1 (TFF1), favoring its homodimerization and motogenic activity (523 visite)
Cell Mol Life Sci (ISSN: 1420-9071electronic, 1420-682xlinking), 2010 Jun; 67(11): 1943-1955.
Impact Factor: 7.047
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Capaccio D, Ciccodicola A, Sabatino L, Casamassimi A, Pancione M, Fucci A, Febbraro, Merlino A, Graziano G, Colantuoni V
* A novel germline mutation in Peroxisome Proliferator-Activated Receptor γ gene associated with large intestine polyp formation and dyslipidemia (384 visite)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2010; 1802(6): 572-581.
Impact Factor: 2.773
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Palladino P, Ronga L, Benedetti E, Rossi F, Ragone R
* Peptide Fragment Approach to Prion Misfolding: The Alpha-2 Domain (373 visite)
Int J Pept Res Ther (ISSN: 1573-3149, 0929-5666), 2009 Sep; 15(3): 165-176.
Impact Factor: 0.869
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Pennacchio A, Esposito L, Zagari A, Rossi M, Raia CA
* Role of Tryptophan 95 in substrate specificity and structural stability of Sulfolobus solfataricus alcohol dehydrogenase (284 visite)
Extremophiles (ISSN: 1431-0651, 1433-4909, 1433-4909electronic), 2009 Sep; 13(5): 751-761.
Impact Factor: 2
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Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G
* Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study (323 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Sep; 256(8): 1252-1257.
Impact Factor: 2.903
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Ruggiero I, Cantiello P, Lamberti A, Sorrentino A, Martucci NM, Ruggiero A, Arcone R, Vitagliano L, Arcari P, Masullo M
* Biochemical Characterisation Of The D60a Mutant Of The Elongation Factor 1 Alpha From The Archaeon Sulfolobus Solfataricus (276 visite)
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2009 Jul; 91(7): 835-842.
Impact Factor: 3.897
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Ierano C, Giuliano P, D'Alterio C, Cioffi M, Mettivier V, Portella L, Napolitano M, Barbieri A, Arra C, Liguori G, Franco R, Palmieri G, Rozzo C, Pacelli R, Castello G, Scala S
* A point mutation (G574A) in the chemokine receptor CXCR4 detected in human cancer cells enhances migration (352 visite)
Cell Cycle (ISSN: 1538-4101), 2009 Apr 15; 8(8): 1228-1237.
Impact Factor: 4.087
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Napolitano R, Maruotti GM, Quarantelli M, Martinelli P, Paladini D
* Prenatal diagnosis of Seckel syndrome on 3-dimensional sonography and magnetic resonance imaging (280 visite)
J Ultrasound Med (ISSN: 0278-4297, 1550-9613), 2009 Mar; 28(3): 369-374.
Impact Factor: 1.181
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Kaczmarek K, Farina B, Zubrzak P, Jankowski S, Zimecki M, Suder P, Benedetti E, Fattorusso R, Saviano M, Zabrocki J
* Synthesis, conformational analysis and immunological activity of β3Phe-substituted Cyclolinopeptide A analogues (440 visite)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2009 Mar; 15(3): 166-174.
Impact Factor: 1.807
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Ronga L, Palladino P, Ragone R, Benedetti E, Rossi F
* A thermodynamic approach to the conformational preferences of the 180-195 segment derived from the human prion protein α2-helix (267 visite)
J Pept Sci (ISSN: 1075-2617, 1099-1387, 1075-2617print), 2009; 15(1): 30-35.
Impact Factor: 1.807
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Cigliano L, D'Andrea LD, Maresca B, Serino M, Carlucci A, Salvatore A, Spagnuolo MS, Scigliuolo G, Pedone C, Abrescia P
* Relevance of the amino acid conversions L144R (Zaragoza) and L159P (Zavalla) in the apolipoprotein A-I binding site for haptoglobin (357 visite)
Biol Chem Biological Chemistry (ISSN: 1431-6730, 1437-4315), 2008 Nov; 389(11): 1421-1426.
Impact Factor: 3.035
Dettagli Esporta in BibTeX Esporta in EndNote
Galderisi S, Quarantelli M, Volpe U, Mucci A, Cassano GB, Invernizzi G, Rossi A, Vita A, Pini S, Cassano P, Daneluzzo E, De Peri L, Stratta P, Brunetti A, Maj M
* Patterns of structural MRI abnormalities in deficit and nondeficit schizophrenia (450 visite) (PDF 181 visite)
Schizophr Bull (ISSN: 0586-7614, 1745-1701electronic), 2008 Mar; 34(2): 393-401.
Impact Factor: 6.592
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Goldfine ID, Maddux BA, Youngren JF, Reaven G, Accili D, Trischitta V, Vigneri R, Frittitta L
* The role of membrane glycoprotein plasma cell antigen 1 ectonucleotide pyrophosphatase phosphodiesterase 1 in the pathogenesis of insulin resistance and related abnormalities (512 visite)
Endocrine Reviews (ISSN: 0163-769x), 2008 Feb; 29(1): 62-75.
Impact Factor: 18.562
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Cucinotta V, Giuffrida A, Grasso G, Maccarrone G, Messina M, Vecchio G
* High selectivity in new chiral separations of dansyl amino acids by cyclodextrin derivatives in electrokinetic chromatography (260 visite)
J Chromatogr A (ISSN: 0021-9673), 2007; 1155(2): 172-179.
Impact Factor: 3.641
Dettagli Esporta in BibTeX Esporta in EndNote
Paladini D, Sglavo G, Quarantelli M, Vassallo M, Nappi C
* Oc158: Multimodal Diagnostic Flow Chart For Prenatal Characterization Of Cns Abnormalities In A Tertiary Referral Center: The Role Of Mri (287 visite)
Ultrasound Obstet Gynecol, 2007; 30: 415-416.
Impact Factor: 4.368
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Menchise V, De Simone G, Di Fiore A, Scozzafava A, Supuran CT
* Carbonic anhydrase inhibitors: X-ray crystallographic studies for the binding of 5-amino-1, 3, 4-thiadiazole-2-sulfonamide and 5-(4-amino-3-chloro-5-fluorophenylsulfonamido)1, 3, 4-thiadiazole-2-sulfon amide to human isoform II (285 visite)
Bioorganic & Medicinal Chemistry Letters (ISSN: 0960-894x), 2006 Dec 15; 16(24): 6204-6208.
Impact Factor: 2.538
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Pailot A, D'Ambrosio K, Corbier C, Talfournier F, Branlant G
* Invariant Thr(244) is essential for the efficient acylation step of the non-phosphorylating glyceraldehyde-3-phosphate dehydrogenase from Streptococcus mutans (310 visite)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2006 Dec 15; 400: 521-530.
Impact Factor: 4.1
Dettagli Esporta in BibTeX Esporta in EndNote
Del Giudice E, Bianchi MC, Tosetti M, Varrone A, Romano A, Crisanti AF, Titomanlio L, Imperati F
* Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment? (287 visite)
Epileptic Disord (ISSN: 1294-9361), 2006 Dec; 8(4): 289-293.
Impact Factor: 1.202
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Berisio R, Corti N, Pfister P, Yonath A, Böttger EC
* 23S rRNA 2058A→G alteration mediates ketolide resistance in combination with deletion in L22 (310 visite)
Antimicrob Agents Ch (ISSN: 0066-4804, 1098-6596), 2006 Nov; 50(11): 3816-3823.
Impact Factor: 4.153
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Santamaria F, Montella S, Camera L, Palumbo C, Greco L, Boner AL
* Lung structure abnormalities, but normal lung function in pediatric bronchiectasis (373 visite)
Chest (ISSN: 0012-3692), 2006 Sep; 130(2): 480-486.
Impact Factor: 3.924
Dettagli Esporta in BibTeX Esporta in EndNote
Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M, De Robertis V, Buonadonna AL, Caruso G, Gentile M
* Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus (338 visite)
Ultrasound Obst Gyn (ISSN: 0960-7692, 1469-0705), 2006 May; 27(5): 509-516.
Impact Factor: 2.288
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Fiory F, Alberobello AT, Miele C, Oriente F, Esposito I, Corbo V, Ruvo M, Tizzano B, Rasmussen TE, Gammeltoft S, Formisano P, Beguinot F
* Tyrosine phosphorylation of phosphoinositide-dependent kinase 1 by the insulin receptor is necessary for insulin metabolic signaling (439 visite)
Mol Cell Biol (ISSN: 0270-7306, 1098-5549), 2005 Dec; 25(24): 10803-10814.
Impact Factor: 7.093
Dettagli Esporta in BibTeX Esporta in EndNote
Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (292 visite)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
Dettagli Esporta in BibTeX Esporta in EndNote
Picone D, Di Fiore A, Ercole C, Franzese M, Sica F, Tomaselli S, Mazzarella L
* The role of the hinge loop in domain swapping - The special case of bovine seminal ribonuclease (347 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2005 Apr 8; 280(14): 13771-13778.
Impact Factor: 5.854
Dettagli Esporta in BibTeX Esporta in EndNote
Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F
* Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child (317 visite)
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.
Impact Factor: 10.131
Dettagli Esporta in BibTeX Esporta in EndNote
Langella E, Improta R, Barone V
* Checking the pH-induced conformational transition of prion protein by molecular dynamics simulations: Effect of protonation of histidine residues (334 visite)
Biophysical Journal (ISSN: 0006-3495, 1542-0086), 2004 Dec; 87(6): 3623-3632.
Impact Factor: 4.585
Dettagli Esporta in BibTeX Esporta in EndNote
Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F
* Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function (329 visite)
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2004 May 15; 380: 51-56.
Impact Factor: 4.278
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Milardi D, Grasso DM, Verbeet MP, Canters GW, La Rosa C
* Thermodynamic analysis of the contributions of the copper ion and the disulfide bridge to azurin stability: Synergism among multiple depletions (312 visite)
Arch Biochem Biophys (ISSN: 0003-9861), 2003 Jun 1; 414(1): 121-127.
Impact Factor: 2.338
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Dathan N, Zaccaro L, Esposito S, Isernia C, Omichinski JG, Riccio A, Pedone C, Di Blasio B, Fattorusso R, Pedone PV
* The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys(2)-His(2) zinc finger motif (475 visite)
Nucleic Acids Res (ISSN: 0305-1048, 1362-4962, 1362-4962electronic), 2002 Nov 15; 30(22): 4945-4951.
Impact Factor: 7.051
Dettagli Esporta in BibTeX Esporta in EndNote
Rossi M, Manfredi V, Ruvo M, Fassina G, Verdoliva A
* Sequence-simplification and chimeric assembly: New models of peptide antigen modification (358 visite)
Mol Immunol (ISSN: 0161-5890), 2002 Nov; 39(7-8): 443-451.
Impact Factor: 2.414
Dettagli Esporta in BibTeX Esporta in EndNote
Masullo M, Cantiello P, Paola B, Fiengo A, Vitagliano L, Zagari A, Arcari P
* Valine114 Replacements In The Archaeal Elongation Factor 1a Enhanced Its Ability To Interact With Aminoacyl-Trna And Kirromycin (327 visite)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2002; 41(49): 14482-14488.
Impact Factor: 4.064
Dettagli Esporta in BibTeX Esporta in EndNote
De Falco S, Ruvoletto MG, Verdoliva A, Ruvo M, Raucci A, Marino M, Senatore S, Cassani G, Alberti A, Pontisso P, Fassina G
* Cloning and Expression of a Novel Hepatitis B Virus-binding Protein from HepG2 Cells (573 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2001 Sep 28; 276(39): 36613-36623.
Impact Factor: 7.258
Dettagli Esporta in BibTeX Esporta in EndNote
Orru S, Vitagliano L, Esposito L, Mazzarella L, Marino G, Ruoppolo M
Effect of deamidation on folding of ribonuclease (339 visite)
Protein Sci (ISSN: 0961-8368, 1469-896xelectronic), 2000 Dec; 9(12): 2577-2582.
Impact Factor: 3.869
Dettagli Esporta in BibTeX Esporta in EndNote
Oliva R, Falcigno L, D'Auria G, Zanotti G, Paolillo L
Conformation and calcium-binding properties of a bicyclic nonapeptide (330 visite)
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2000; 56(1): 27-36.
Impact Factor: 2.405
Dettagli Esporta in BibTeX Esporta in EndNote
Martínez JC, Viguera AR, Berisio R, Wilmanns M, Mateo PL, Filimonov VV, Serrano L
Thermodynamic analysis of α-spectrin SH3 and two of its circular permutants with different loop lengths: Discerning the reasons for rapid folding in proteins (353 visite)
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 1999 Jan 12; 38(2): 549-559.
Impact Factor: 4.493
Dettagli Esporta in BibTeX Esporta in EndNote
Capasso S, Di Donato A, Esposito L, Sica F, Sorrentino G, Vitagliano L, Zagari A, Mazzarella L
Deamidation in proteins: The crystal structure of bovine pancreatic ribonuclease with an isoaspartyl residue at position 67 (401 visite)
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 1996; 257(3): 492-496.
Impact Factor: 5.673
Dettagli Esporta in BibTeX Esporta in EndNote
Lastoria S, Piccolo S, Varrella P, Acampa W, Mainolfi C, Vergara E, Wang H, Muto P, Salvatore M
Comparative results of Tc-99m MIBI and Tc-99m MDP scintimammography in patients with breast abnormalities (182 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 1995; 36(5SUPPL.): N/D-N/D.
Impact Factor: 3.491
Dettagli Esporta in BibTeX Esporta in EndNote
d'Onofrio G, Salvati AM, Berti P, Cappabianca MP, Marsili G, Quarantelli M, Zini G, Casini C, De Philippis C, Mango G
Analysis of leucocyte populations with the Coulter S-Plus STKR as a screening tool for haematological abnormalities (280 visite)
Clin Lab Haematol (ISSN: 0141-9854), 1991; 13(1): 51-66.
Impact Factor: 0.362
Dettagli Esporta in BibTeX Esporta in EndNote
66 Records (61 escludendo Abstract e Conferenze).
Impact factor totale: 254.616 (237.86 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 262.694 (239.533 escludendo Abstract e Conferenze).
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