Research Output

2019

Characterization of the novel HLA-DRB3*03:37 allele by sequencing-based typing

Cargou, M., Andreani, M., Giustiniani, P., Guidicelli, G. & Visentin, J., 2019, In : HLA. 95, 2, p. 152-153 2 p.

Research output: Contribution to journalArticle

Chemical genomics reveals histone deacetylases are required for core regulatory transcription

Gryder, B. E., Wu, L., Woldemichael, G. M., Pomella, S., Quinn, T. R., Park, P. M. C., Cleveland, A., Stanton, B. Z., Song, Y., Rota, R., Wiest, O., Yohe, M. E., Shern, J. F., Qi, J. & Khan, J., Jul 8 2019, In : Nature Communications. 10, 1, p. 3004

Research output: Contribution to journalArticle

Chest Imaging of a rare case of cat-scratch disease in a 2-years-old baby

Rossi, E., Perrone, A., Bongini, U., Cangelosi, A. M., Sollai, S., Narese, D. & Defilippi, C., Jan 15 2019, In : Acta bio-medica : Atenei Parmensis. 89, 4, p. 585-588 4 p.

Research output: Contribution to journalArticle

Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

von Stülpnagel, C., Hartlieb, T., Borggräfe, I., Coppola, A., Gennaro, E., Eschermann, K., Kiwull, L., Kluger, F., Krois, I., Møller, R. S., Rössler, F., Santulli, L., Schwermer, C., Wallacher-Scholz, B., Zara, F., Wolf, P. & Kluger, G., Feb 2019, In : Seizure. 65, p. 131-137 7 p.

Research output: Contribution to journalReview article

Chiari malformation type I: what information from the genetics?

Capra, V., Iacomino, M., Accogli, A., Pavanello, M., Zara, F., Cama, A. & De Marco, P., Oct 2019, In : Child's Nervous System. 35, 10, p. 1665-1671 7 p.

Research output: Contribution to journalArticle

Child presenting with breathlessness 1 month after cardiac surgery

Gesuete, V., Salis, S., Gortani, G. & Barbi, E., Jan 1 2019, (Accepted/In press) In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalReview article

Child with a non-painful red scrotum

Pascolo, P., Magnolato, A., Calligaris, L., Sanabor, D., Barbi, E. & Cozzi, G., Jan 1 2019, (Accepted/In press) In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalComment/debate

Child with intermittent diplopia after otitis media

Caddeo, G., Skabar, A., Gregori, M., Barbi, E. & Cozzi, G., Jan 1 2019, (Accepted/In press) In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalComment/debate

Child With Unilateral Temporal Swelling

Conversano, E., Udina, C., Cozzi, G., Dal Bo, S., Marchetti, F. & Barbi, E., Apr 2019, In : Annals of Emergency Medicine. 73, 4, p. e45-e46

Research output: Contribution to journalShort survey

Open Access

Chirurgia transorale robotica per il trattamento del carcinoma orofaringeo: Esperienza di 9 anni

Translated title of the contribution: Trans-oral robotic surgery for the management of oropharyngeal carcinomas: A 9-year institutional experienceMeccariello, G., Montevecchi, F., D’Agostino, G., Iannella, G., Calpona, S., Parisi, E., Costantini, M., Cammaroto, G., Gobbi, R., Firinu, E., Sgarzani, R., Nestola, D., Bellini, C., De Vito, A., Amadori, E. & Vicini, C., Apr 2019, In : Acta Otorhinolaryngologica Italica. 39, 2, p. 75-83 9 p.

Research output: Contribution to journalArticle

Open Access

Chronic Liver Involvement in Urea Cycle Disorders

Ranucci, G., Rigoldi, M., Cotugno, G., Bernabei, S., Liguori, A., Gasperini, S., Goffredo, B., Martinelli, D., Monti, L., Francalanci, P., Candusso, M., Parini, R. & Dionisi-Vici, C., Jul 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Chronic school absenteeism as a diagnostic clue for paediatricians

Cozzi, G. & Barbi, E., Jan 1 2019, (Accepted/In press) In : Journal of Paediatrics and Child Health.

Research output: Contribution to journalComment/debate

Open Access

Circulating insulin-like growth factor I in relation to melanoma risk in the European prospective investigation into cancer and nutrition

Bradbury, K. E., Appleby, P. N., Tipper, S. J., Travis, R. C., Allen, N. E., Kvaskoff, M., Overvad, K., Tjønneland, A., Halkjær, J., Cervenka, I., Mahamat-Saleh, Y., Bonnet, F., Kaaks, R., Fortner, R. T., Boeing, H., Trichopoulou, A., La Vecchia, C., Stratigos, A. J., Palli, D., Grioni, S. & 26 others, Matullo, G., Panico, S., Tumino, R., Peeters, P. H., Bueno-de-Mesquita, H. B., Ghiasvand, R., Veierød, M. B., Weiderpass, E., Bonet, C., Molina, E., Huerta, J. M., Larrañaga, N., Barricarte, A., Merino, S., Isaksson, K., Stocks, T., Ljuslinder, I., Hemmingsson, O., Wareham, N., Khaw, K. T., Gunter, M. J., Rinaldi, S., Tsilidis, K. K., Aune, D., Riboli, E. & Key, T. J., Mar 1 2019, In : International Journal of Cancer. 144, 5, p. 957-966 10 p.

Research output: Contribution to journalArticle

Open Access

Classical pediatric Hodgkin lymphoma in very young patients: the Italian experience

Farruggia, P., Puccio, G., Locatelli, F., Vetro, M., Pillon, M., Trizzino, A., Sala, A., Buffardi, S., Garaventa, A., Rossi, F., Bianchi, M., Zecca, M., Pession, A., Favre, C., D’Amico, S., Provenzi, M., Zanazzo, G. A., Sau, A., Santoro, N., Mura, R. & 4 others, Elia, C., Casini, T., Mascarin, M. & Burnelli, R., 2019, In : Leukemia and Lymphoma. 60, 3, p. 696-702 7 p.

Research output: Contribution to journalArticle

Classical pediatric Hodgkin lymphoma in very young patients: the Italian experience

Farruggia, P., Puccio, G., Locatelli, F., Vetro, M., Pillon, M., Trizzino, A., Sala, A., Buffardi, S., Garaventa, A., Rossi, F., Bianchi, M., Zecca, M., Pession, A., Favre, C., D'Amico, S., Provenzi, M., Zanazzo, G. A., Sau, A., Santoro, N., Mura, R. & 4 others, Elia, C., Casini, T., Mascarin, M. & Burnelli, R., Mar 2019, In : Leukemia and Lymphoma. 60, 3, p. 696-702 7 p.

Research output: Contribution to journalArticle

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 23 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P. & Ruperto, N., Apr 24 2019, In : Annals of the Rheumatic Diseases.

Research output: Contribution to journalArticle

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 23 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., Van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P. & Ruperto, N., Aug 1 2019, In : Annals of the Rheumatic Diseases. 78, 8, p. 1025-1032 8 p.

Research output: Contribution to journalArticle

Open Access

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 23 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., Van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P. & Ruperto, N., 2019, In : Annals of the Rheumatic Diseases. 78, 8, p. 1025-1032 8 p.

Research output: Contribution to journalArticle

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 24 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P., Ruperto, N. & (PRINTO), E. R. A. T. P. R. I. T. O., Aug 2019, In : Annals of the Rheumatic Diseases. 78, 8, p. 1025-1032 8 p.

Research output: Contribution to journalArticle

Clear fluids fasting for elective paediatric anaesthesia: The European Society of Anaesthesiology consensus statement

Disma, N., Thomas, M., Afshari, A., Veyckemans, F. & De Hert, S., Mar 2019, In : European Journal of Anaesthesiology. 36, 3, p. 173-174 2 p.

Research output: Contribution to journalArticle

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P. & Ceballos-Picot, I., Jun 2019, In : Molecular Genetics and Metabolism. 127, 2, p. 147-157 11 p.

Research output: Contribution to journalArticle

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G. & 15 others, Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A. & Pignata, C., 2019, In : Frontiers in Immunology. 10, p. 1908

Research output: Contribution to journalArticle

Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network

Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D’alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G. & 15 others, Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A. & Pignata, C., 2019, In : Frontiers in Immunology. 10, AUG

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Clinical and genetic findings of two cases with Apert syndrome

Cammarata-Scalisi, F., Yilmaz, E., Callea, M., Avendaño, A., Mıhçı, E. & Alper, O. M., Jan 11 2019, In : Boletin Medico del Hospital Infantil de Mexico. 76, 1, p. 44-48 5 p.

Research output: Contribution to journalArticle

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Møller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H. & 1 others, Fazeli, W., May 2019, In : European Journal of Paediatric Neurology. 23, 3, p. 438-447 10 p.

Research output: Contribution to journalArticle

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

Guarnotta, V., Niceta, M., Bono, M., Marchese, S., Fabiano, C., Indelicato, S., Di Gaudio, F., Garofalo, P. & Giordano, C., Dec 2 2019, In : Journal of Steroid Biochemistry and Molecular Biology. 198, p. 105554

Research output: Contribution to journalArticle

Clinical and morphological practices in the diagnosis of transplant-associated microangiopathy: a study on behalf of Transplant Complications Working Party of the EBMT

Moiseev, I. S., Tsvetkova, T., Aljurf, M., Alnounou, R. M., Bogardt, J., Chalandon, Y., Drokov, M. Y., Dvirnyk, V., Faraci, M., Friis, L. S., Giglio, F., Greinix, H. T., Kornblit, B. T., Koelper, C., Koenecke, C., Lewandowski, K., Niederwieser, D., Passweg, J. R., Peczynski, C., Penack, O. & 15 others, Peric, Z., Piekarska, A., Ronchi, P. E., Rovo, A., Rzepecki, P., Scuderi, F., Sigrist, D., Siitonen, S. M., Stoelzel, F., Sulek, K., Tsakiris, D. A., Wilkowojska, U., Duarte, R. F., Ruutu, T. & Basak, G. W., Jul 2019, In : Bone Marrow Transplantation. 54, 7, p. 1022-1028 7 p.

Research output: Contribution to journalArticle

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

Research output: Contribution to journalArticle

Clinical applications of donor lymphocyte infusion from an HLA-haploidentical donor: consensus recommendations from the acute leukemia working party of the EBMT

Dholaria, B., Savani, B. N., Labopin, M., Luznik, L., Ruggeri, A., Mielke, S., Al Malki, M. M., Kongtim, P., Fuchs, E., Huang, X-J., Locatelli, F., Aversa, F., Castagna, L., Bacigalupo, A., Martelli, M., Blaise, D., Ben Soussan, P., Arnault, Y., Handgretinger, R., Roy, D-C. & 19 others, O'Donnell, P., Bashey, A., Solomon, S., Romee, R., Lewalle, P., Gayoso, J., Maschan, M., Lazarus, H. M., Ballen, K., Giebel, S., Baron, F., Ciceri, F., Esteve, J., Gorin, N-C., Spyridonidis, A., Schmid, C., Ciurea, S. O., Nagler, A. & Mohty, M., Sep 19 2019, In : Haematologica.

Research output: Contribution to journalArticle

Clinical applications of donor lymphocyte infusion from an HLA-haploidentical donor: consensus recommendations from the acute leukemia working party of the EBMT

Dholaria, B., Savani, B. N., Labopin, M., Luznik, L., Ruggeri, A., Mielke, S., Al Malki, M. M., Kongtim, P., Fuchs, E., Huang, X-J., Locatelli, F., Aversa, F., Castagna, L., Bacigalupo, A., Martelli, M., Blaise, D., Ben Soussan, P., Arnault, Y., Handgretinger, R., Roy, D-C. & 19 others, O'Donnell, P., Bashey, A., Solomon, S., Romee, R., Lewalle, P., Gayoso, J., Maschan, M., Lazarus, H. M., Ballen, K., Giebel, S., Baron, F., Ciceri, F., Esteve, J., Gorin, N-C., Spyridonidis, A., Schmid, C., Ciurea, S. O., Nagler, A. & Mohty, M., Sep 19 2019, In : Haematologica.

Research output: Contribution to journalArticle

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

registry, E., (PRINTO), T. P. R. I. T. O., Ter Haar, N. M., Eijkelboom, C., Cantarini, L., Papa, R., Brogan, P. A., Kone-Paut, I., Modesto, C., Hofer, M., Iagaru, N., Fingerhutová, S., Insalaco, A., Licciardi, F., Uziel, Y., Jelusic, M., Nikishina, I., Nielsen, S., Papadopoulou-Alataki, E., Olivieri, A. N. & 8 others, Cimaz, R., Susic, G., Stanevica, V., van Gijn, M., Vitale, A., Ruperto, N., Frenkel, J. & Gattorno, M., Oct 1 2019, In : Annals of the Rheumatic Diseases. 78, 10, p. 1405-1411 7 p.

Research output: Contribution to journalArticle

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO), Oct 2019, In : Annals of the Rheumatic Diseases. 78, 10, p. 1405-1411 7 p.

Research output: Contribution to journalArticle

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Rojnueangnit, K., Charalsawadi, C., Thammachote, W., Pradabmuksiri, A., Tim-Aroon, T., Novelli, A., Loddo, S., Briuglia, S., Concetta, C. M., Wattanasirichaigoon, D. & Jinawath, N., Sep 2019, In : Molecular genetics & genomic medicine. 7, 9, p. e896

Research output: Contribution to journalArticle

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy

Bernardo, P., Ferretti, A., Terrone, G., Santoro, C., Bravaccio, C., Striano, S., Coppola, A. & Striano, P., Jun 1 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, 3, p. 271-277 7 p.

Research output: Contribution to journalArticle

Clinical features and outcomes of young patients with epithelioid sarcoma: an analysis from the Children's Oncology Group and the European paediatric soft tissue Sarcoma Study Group prospective clinical trials

Spunt, S. L., Francotte, N., De Salvo, G. L., Chi, Y. Y., Zanetti, I., Hayes-Jordan, A., Kao, S. C., Orbach, D., Brennan, B., Weiss, A. R., van Noesel, M. M., Million, L., Alaggio, R., Parham, D. M., Kelsey, A., Randall, R. L., McCarville, M. B., Bisogno, G., Hawkins, D. S. & Ferrari, A., May 2019, In : Eur. J. Cancer. 112, p. 98-106 9 p.

Research output: Contribution to journalArticle

Clinical features and therapeutic challenges of cytopenias belonging to alps and alps-related (ARS) phenotype

Palmisani, E., Miano, M., Micalizzi, C., Calvillo, M., Pierri, F., Terranova, P., Lanza, T., Lanciotti, M., Riccardi, F., Todiere, A., Zanardi, S., Caviglia, I., Dufour, C. & Fioredda, F., Mar 2019, In : British Journal of Haematology. 184, 5, p. 861-864 4 p.

Research output: Contribution to journalArticle

Clinical features of patients with systemic lupus erythematosus according to health-related quality of life, entity of pain, fatigue and depression: a cluster analysis

Margiotta, D. P. E., Fasano, S., Basta, F., Pierro, L., Riccardi, A., Navarini, L., Valentini, G. & Afeltra, A., May 30 2019, In : Clinical and Experimental Rheumatology. 37, 4, p. 535-539 5 p.

Research output: Contribution to journalArticle

Clinical features of sleep-related hypermotor epilepsy in relation to the seizure-onset zone: A review of 135 surgically treated cases

Gibbs, S. A., Proserpio, P., Francione, S., Mai, R., Cardinale, F., Sartori, I., Castana, L., Plazzi, G., Tinuper, P., Cossu, M., Russo, G. L., Tassi, L. & Nobili, L., 2019, In : Epilepsia. 60, 4, p. 707-717 11 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Clinical Operational Tolerance and Immunosuppression Minimization in Kidney Transplantation: Where Do We Stand?

Manzia, T. M., Gazia, C., Baiocchi, L., Lenci, I., Milana, M., Santopaolo, F., Angelico, R. & Tisone, G., Mar 13 2019, In : Reviews on Recent Clinical Trials.

Research output: Contribution to journalArticle

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

Has, C., Liu, L., Bolling, M., Charlesworth, A. V., El Hachem, M., Escámez, M. J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla-Gubo, G., van den Akker, P., Wertheim-Tysarowska, K. & Zambruno, G., May 15 2019, In : British Journal of Dermatology.

Research output: Contribution to journalArticle

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Haffner, D., Emma, F., Eastwood, D. M., Duplan, M. B., Bacchetta, J., Schnabel, D., Wicart, P., Bockenhauer, D., Santos, F., Levtchenko, E., Harvengt, P., Kirchhoff, M., Di Rocco, F., Chaussain, C., Brandi, M. L., Savendahl, L., Briot, K., Kamenicky, P., Rejnmark, L. & Linglart, A., May 8 2019, In : Nature Reviews Nephrology.

Research output: Contribution to journalReview article

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pivnick, E. K., Pinna, V., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Open Access

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pivnick, E. K., Pinna, V., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2019, In : Hum. Mutat..

Research output: Contribution to journalArticle