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Letter

A Boy with Genital Lesions in Course of Crohn Disease

Pavan, M., Ferrara, G., Nider, S., Martelossi, S., Ventura, A. & Ventura, A., Sep 1 2017, In : Journal of Pediatric Gastroenterology and Nutrition. 65, 3, p. e74-e75

Research output: Contribution to journalLetter

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome

Numata, S., Teye, K., Krol, R. P., Okamatsu, Y., Hashikawa, K., Matsuda, M., Fortugno, P., Di Zenzo, G., Castiglia, D., Zambruno, G., Hamada, T. & Hashimoto, T., Jul 1 2016, In : Experimental Dermatology. 25, 7, p. 568-570 3 p.

Research output: Contribution to journalLetter

Acute generalized exanthematous pustulosis associated with Epstein-Barr virus infection reactivation

Giancristoforo, S., Diociaiuti, A., Menis, D., Rota, C., Russo, C., Coltella, L., Paradisi, M. & El Hachem, M., Feb 1 2019, In : Giornale Italiano di Dermatologia e Venereologia. 154, 1, p. 91-92 2 p.

Research output: Contribution to journalLetter

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy

Cifaldi, C., Scarselli, A., Petricone, D., Di Cesare, S., Chiriaco, M., Claps, A., Rossi, P., Calzoni, E., Yamazaki, Y., Notarangelo, L. D., Di Matteo, G., Cancrini, C. & Finocchi, A., Dec 1 2016, In : Clinical Immunology. 173, p. 121-123 3 p.

Research output: Contribution to journalLetter

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

Panza, E., Escamilla-Honrubia, J. M., Marco-Marín, C., Gougeard, N., De Michele, G., Morra, V. B., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Németh, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V. & Seri, M., Jan 1 2016, In : Brain. 139, 1, e3.

Research output: Contribution to journalLetter

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

Panza, E., Escamilla-Honrubia, J. M., Marco-Marín, C., Gougeard, N., De Michele, G., Morra, V. B., Liguori, R., Salviati, L., Donati, M. A. L., Cusano, R., Pippucci, T., Ravazzolo, R., Németh, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V. & Seri, M., Jan 1 2016, In : Brain. 139, p. e3

Research output: Contribution to journalLetter

Alternate-day dosing of posaconazole tablets in children leads to efficient plasma levels

Mesini, A., Faraci, M., Giardino, S., Ricci, E., Barco, S., Cangemi, G., Lanino, E. & Castagnola, E., Jul 1 2018, In : European Journal of Haematology. 101, 1, p. 127-128 2 p.

Research output: Contribution to journalLetter

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage

Callea, F., Giovannoni, I., Sari, S., Aksu, A. U., Esendagly, G., Dalgic, B., Boldrini, R., Akyol, G., Francalanci, P. & Bellacchio, E., Aug 1 2017, In : Pathology. 49, 5, p. 534-537 4 p.

Research output: Contribution to journalLetter

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journalLetter

A novel splicing mutation in the ALB gene causing analbuminaemia in a Portuguese woman

Caridi, G., de Abreu, I. B. R., Alves, J. A., Lugani, F., Campagnoli, M., Galliano, M. & Minchiotti, L., Oct 1 2018, In : Pathology. 50, 6, p. 679-682 4 p.

Research output: Contribution to journalLetter

Antiviral properties of blue laser in an in vitro model of HSV-1 infection

Zupin, L., Caracciolo, I., Tricarico, P. M., Ottaviani, G., D'Agaro, P. & Crovella, S., Jul 1 2018, In : Microbiology and Immunology. 62, 7, p. 477-479 3 p.

Research output: Contribution to journalLetter

Aortic dilation in Sotos syndrome: An underestimated feature?

Pezzani, L., Mauri, L., Selicorni, A., Peron, A., Grasso, M., Codazzi, A. C., Rimini, A., Marchisio, P. G., Coviello, D., Colli, A. & Milani, D., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

A Rare Cause of Vaginal Bleeding in Infancy: Be Aware of the Benign Müllerian Papilloma

Lucchetti, M. C., Diomedi Camassei, F., Bakhsh, H. & Crucianelli, S., Aug 1 2017, In : Journal of Pediatric and Adolescent Gynecology. 30, 4, p. 516-517 2 p.

Research output: Contribution to journalLetter

A reversible carnitine palmitoyltransferase (CPT1) inhibitor offsets the proliferation of chronic lymphocytic leukemia cells

Gugiatti, E., Tenca, C., Ravera, S., Fabbi, M., Ghiotto, F., Mazzarello, A. N., Bagnara, D., Reverberi, D., Zarcone, D., Cutrona, G., Ibatici, A., Ciccone, E., Darzynkiewicz, Z., Fais, F. & Bruno, S., Nov 1 2018, In : Haematologica. 103, 11, p. e531-e536

Research output: Contribution to journalLetter

Asthma control in children and adolescents: a study in clinical practice

Licari, A., Marseglia, G., Tosca, M. A. & Ciprandi, G., Jan 1 2019, In : Journal of Asthma.

Research output: Contribution to journalLetter

A system to save lives in Italy: A cultural challenge for community and government

Scapigliati, A., Ristagno, G., Grieco, N. B., Boccuzzi, A., Scelsi, S., Di Marco, S., Panzarino, B., Copetti, S., Tumolo, M. & Semeraro, F., Sep 1 2019, In : Resuscitation. 142, p. 25-27 3 p.

Research output: Contribution to journalLetter

Open Access

Atomic force microscopy: a promising aid in diagnosis of uterine smooth muscle neoplasms

Peñuela, L. A., Fulcheri, E., Vellone, V. G., Fiocca, R., Vigliercio, G. M., Raiteri, R. & Ferrero, S., Oct 1 2019, In : American Journal of Obstetrics and Gynecology. 221, 4, p. 362-364 3 p.

Research output: Contribution to journalLetter

Open Access

Authors' reply to Page and Rafi

Zeitlin, J., Manktelow, B. N., Piedvache, A., Cuttini, M., Boyle, E., Van Heijst, A., Gadzinowski, J., Van Reempts, P., Huusom, L., Weber, T., Schmidt, S., Barros, H., Dillalo, D., Toome, L., Norman, M., Blondel, B., Bonet, M., Draper, E. S. & Maier, R. F., 2016, In : British Medical Journal. 354, i4671.

Research output: Contribution to journalLetter

Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry

Farruggia, P., Puccio, G., Fioredda, F., Lanza, T., Porretti, L., Ramenghi, U., Barone, A., Bonanomi, S., Finocchi, A., Ghilardi, R., Ladogana, S., Marra, N., Martire, B., Notarangelo, L. D., Onofrillo, D., Pillon, M., Russo, G., Lo Valvo, L., Serafinelli, J., Tucci, F. & 3 others, Zunica, F., Verzegnassi, F. & Dufour, C., Sep 1 2017, In : American Journal of Hematology. 92, 9, p. E546-E549

Research output: Contribution to journalLetter

CD19-negative relapse of pediatric B-cell precursor acute lymphoblastic leukemia following blinatumomab treatment

Mejstríková, E., Hrusak, O., Borowitz, M. J., Whitlock, J. A., Brethon, B., Trippett, T. M., Zugmaier, G., Gore, L., Von Stackelberg, A. & Locatelli, F., Dec 1 2017, In : Blood Cancer Journal. 7, 12, 1038.

Research output: Contribution to journalLetter

Celiac disease negatively influences lipid profiles in young children with type 1 diabetes: Effect of the gluten-free diet

Salardi, S., Maltoni, G., Zucchini, S., Iafusco, D., Confetto, S., Zanfardino, A., Toni, S., Piccini, B., Zioutas, M., Marigliano, M., Cauvin, V., Franceschi, R., Rabbone, I., Predieri, B., Schiaffini, R., Salvatoni, A., Reinstadler, P., Berioli, G., Cherubini, V. & D'Annunzio, G., Aug 1 2016, In : Diabetes Care. 39, 8, p. e119-e120

Research output: Contribution to journalLetter

Celiac disease negatively influences lipid profiles in young children with type 1 diabetes: Effect of the gluten-free diet

Salardi, S., Maltoni, G., Zucchini, S., Iafusco, D., Confetto, S., Zanfardino, A., Toni, S., Piccini, B., Zioutas, M., Marigliano, M., Cauvin, V., Franceschi, R., Rabbone, I., Predieri, B., Schiaffini, R., Salvatoni, A., Reinstadler, P., Berioli, G., Cherubini, V. & D'Annunzio, G., Aug 1 2016, In : Diabetes Care. 39, 8, p. e119-e120

Research output: Contribution to journalLetter

Characterisation of innate lymphoid cell subsets infiltrating colorectal carcinoma

Carrega, P., Orecchia, P., Quatrini, L., Tumino, N., Venè, R., Benelli, R., Poggi, A., Scabini, S., Mingari, M. C., Moretta, L. & Vacca, P., Jan 1 2020, (Accepted/In press) In : Gut.

Research output: Contribution to journalLetter

Open Access

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E. S., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Children under 5 years are at risk for tuberculosis after occasional contact with highly contagious patients: outbreak from a smear-positive healthcare worker

Luzzati, R., Migliori, G. B., Zignol, M., Cirillo, D. M., Maschio, M., Tominz, R., Ventura, G., Patussi, V., D'Ambrosio, L., Centis, R., Michieletto, F., Trovato, A., Salton, F., Busetti, M., Di Santolo, M., Raviglione, M. & Confalonieri, M., Nov 2017, In : European Respiratory Journal. 50, 5, p. 1701414

Research output: Contribution to journalLetter

Clonal haematopoiesis is not prevalent in survivors of childhood cancer

Collord, G., Park, N., Podestà, M., Dagnino, M., Cilloni, D., Jones, D., Varela, I., Frassoni, F. & Vassiliou, G. S., May 1 2018, In : British Journal of Haematology. 181, 4, p. 537-539 3 p.

Research output: Contribution to journalLetter

Combination of intranasal dexmedetomidine and oral midazolam as sedation for pediatric MRI

Cozzi, G., Monasta, L., Maximova, N., Poropat, F., Magnolato, A., Sbisà, E., Norbedo, S., Sternissa, G., Zanon, D. & Barbi, E., Sep 1 2017, In : Paediatric Anaesthesia. 27, 9, p. 976-977 2 p.

Research output: Contribution to journalLetter

Comment on: Definitive tests for dengue fever: When and which should i use?

Cegolon, L., Heymann, W. C. & Lange, J. H., Mar 1 2018, In : Singapore Medical Journal. 59, 3, 1 p.

Research output: Contribution to journalLetter

Comments on: “Complementary and alternative therapies for restless legs syndrome: An evidence-based systematic review”

Alwardat, M., Schirinzi, T., Di Lazzaro, G., Mercuri, N. B. & Pisani, A., Aug 1 2018, In : Sleep Medicine Reviews. 40, p. 215-216 2 p.

Research output: Contribution to journalLetter

Congenital analbuminemia in unrelated algerian and Turkish families is caused by the same molecular defect in the albumin gene

Caridi, G., Maout, A., Artan, R., Campagnoli, M., Lugani, F., El Amine Abada, M., Sayar, E., Galliano, M. & Minchiotti, L., Jan 1 2018, In : Annals of Laboratory Medicine. 38, 2, p. 185-188 4 p.

Research output: Contribution to journalLetter

Congenital heart defects in Noonan syndrome and RIT1 mutation

Giulio, C., Baban, A., Lepri, F. R., Marino, B., Tartaglia, M. & Digilio, M. C., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1320 1 p.

Research output: Contribution to journalLetter

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

Nicita, F., Bertini, E., Travaglini, L., Armando, M. & Aiello, C., Sep 15 2016, In : Journal of the Neurological Sciences. 368, p. 145-146 2 p.

Research output: Contribution to journalLetter

Cord blood sampling in preventing anemia in extremely preterm infants

Paganin, P., Galdo, F., Bibalo, C. & Risso, F. M., Nov 2019, In : Journal of Pediatrics. 214, 1 p.

Research output: Contribution to journalLetter

Open Access

Correspondence: Osteonecrosis in childhood acute lymphoblastic leukemia: a retrospective cohort study of the Italian Association of Pediatric Haemato-Oncology (AIEOP)

Parasole, R., Valsecchi, M. G., Silvestri, D., Locatelli, F., Barisone, E., Petruzziello, F., Putti, M. C., Micalizzi, C., Colombini, A., Mura, R., Mina, T., Testi, A. M., Notarangelo, L. D., Santoro, N., Casini, T., Consarino, C., Nigro, L. L., Ziino, O., Giagnuolo, G., Rizzari, C. & 1 others, Conter, V., Nov 15 2018, In : Blood Cancer Journal. 8, 12, 1 p.

Research output: Contribution to journalLetter

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Bottega, R., Cappellani, S., Fabretto, A., Spinelli, A. M., Severini, G. M., Aloisio, M., Faleschini, M., Athanasakis, E., Bruno, I., Faletra, F. & Pecile, V., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e546.

Research output: Contribution to journalLetter

Open Access

Decline in Lung Function in Childhood Asthma

Bibalo, C., Longo, G. & Ventura, A., Aug 18 2016, In : New England Journal of Medicine. 375, 7, p. e13

Research output: Contribution to journalLetter

Diaphragm ultrasound in infants with bronchiolitis

Tomà, P., Granata, C. & Sperandeo, M., Sep 1 2018, In : Pediatric Pulmonology. 53, 9, p. 1177-1178 2 p.

Research output: Contribution to journalLetter

Dose-dependent activation of gene expression is achieved using CRISPR and small molecules that recruit endogenous chromatin machinery

Chiarella, A. M., Butler, K. V., Gryder, B. E., Lu, D., Wang, T. A., Yu, X., Pomella, S., Khan, J., Jin, J. & Hathaway, N. A., 2019, In : Nature Biotechnology. 38, 1, p. 50-55 6 p.

Research output: Contribution to journalLetter

Duration of quarantine in hospitalized patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection: a question needing an answer

Lombardi, A., Bozzi, G., Mangioni, D., Muscatello, A., Peri, A. M., Taramasso, L., Ungaro, R., Bandera, A. & Gori, A., Mar 6 2020, (Accepted/In press) In : The Journal of hospital infection.

Research output: Contribution to journalLetter

Open Access

Early oral immunotherapy in infants with cow’s milk protein allergy

Berti, I., Badina, L., Cozzi, G., Giangreco, M., Bibalo, C., Ronfani, L., Barbi, E., Ventura, A. & Longo, G., Aug 2019, In : Pediatric Allergy and Immunology. 30, 5, p. 572-574 3 p.

Research output: Contribution to journalLetter