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Research Output

2020

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Bianchessi, D., Ibba, M. C., Saletti, V., Blasa, S., Langella, T., Paterra, R., Cagnoli, G. A., Melloni, G., Scuvera, G., Natacci, F., Cesaretti, C., Finocchiaro, G. & Eoli, M., Jun 19 2020, In : Genes. 11, 6

Research output: Contribution to journalArticle

Open Access
2019

Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family

Curcio, C., Giannone, V., Benzoni, E., Cesaretti, C. & Ivaldi, G., Jan 1 2019, In : Hemoglobin. 43, 1, p. 4-6

Research output: Contribution to journalArticle

Risk of optic pathway glioma in neurofibromatosis type 1: No evidence of genotype–phenotype correlations in a large independent cohort

Melloni, G., Eoli, M., Cesaretti, C., Bianchessi, D., Ibba, M. C., Esposito, S., Scuvera, G., Morcaldi, G., Micheli, R., Piozzi, E., Avignone, S., Chiapparini, L., Pantaleoni, C., Natacci, F., Finocchiaro, G. & Saletti, V., Dec 2019, In : Cancers. 11, 12, 1838.

Research output: Contribution to journalArticle

Open Access
2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T. & 58 others, Lucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., Garciá-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C. H., Morton, C. C., Meehan, R. R., Van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., MacArthur, D., Moore, S. A., Yoshiura, K. I., Gusella, J. F., Marsh, J. A., Graham, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley, W. F., Davis, E. E., Fitzpatrick, D. R. & Talkowski, M. E., Jan 31 2017, In : Nature Genetics. 49, 2, p. 238-248 11 p.

Research output: Contribution to journalArticle

The absence that makes the difference: choroidal abnormalities in Legius syndrome

Tucci, A., Saletti, V., Menni, F., Cesaretti, C., Scuvera, G., Esposito, S., Melloni, G., Esposito, S., Milani, D., Cereda, C., Cigada, M., Tresoldi, L., Viola, F. & Natacci, F., Nov 2017, In : Journal of Human Genetics. 62, 11, p. 1001-1004 4 p.

Research output: Contribution to journalArticle

2016

Diagnostic value of prenatal MR imaging in the detection of brain malformations in fetuses before the 26th week of gestational age

Giorgio, C., Parazzini, C., Falanga, G., Cesaretti, C., Izzo, G., Rustico, M. & Righini, A., May 1 2016, In : American Journal of Neuroradiology. 37, 5, p. 946-951 6 p.

Research output: Contribution to journalArticle

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

Righini, A., Cesaretti, C., Conte, G., Parazzini, C., Frassoni, C., Bulfamante, G., Avagliano, L., Inverardi, F., Izzo, G. & Rustico, M., Mar 1 2016, In : Neuroradiology. 58, 3, p. 293-300 8 p.

Research output: Contribution to journalArticle

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

Righini, A., Cesaretti, C., Conte, G., Parazzini, C., Frassoni, C., Bulfamante, G., Avagliano, L., Inverardi, F., Izzo, G. & Rustico, M. A., Mar 1 2016, In : Neuroradiology. 58, 3, p. 293-300 8 p.

Research output: Contribution to journalArticle

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype

Cesaretti, C., Spaccini, L., Righini, A., Parazzini, C., Conte, G., Crosti, F., Redaelli, S., Bulfamante, G., Avagliano, L. & Rustico, M., May 1 2016, In : American Journal of Medical Genetics, Part A. 170, 5, p. 1352-1357 6 p.

Research output: Contribution to journalArticle

Variability of forebrain commissures in callosal agenesis: A prenatal MR imaging study

Cesaretti, C., Nanni, M., Ghi, T., Parazzini, C., Conte, G., Contro, E., Grisolia, G. & Righini, A., Mar 1 2016, In : American Journal of Neuroradiology. 37, 3, p. 521-527 7 p.

Research output: Contribution to journalArticle

2015

Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports

Izzo, G., Conte, G., Cesaretti, C., Parazzini, C., Bulfamante, G. & Righini, A., Oct 19 2015, In : Neuropediatrics. 46, 6, p. 416-419 4 p.

Research output: Contribution to journalArticle

Prenatal MR imaging features of isolated cerebellar haemorrhagic lesions

Martino, F., Malova, M., Cesaretti, C., Parazzini, C., Doneda, C., Ramenghi, L. A., Rossi, A. & Righini, A., Oct 16 2015, (Accepted/In press) In : European Radiology.

Research output: Contribution to journalArticle

2014

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia

Cesaretti, C., Spaccini, L., Rustico, M., Parazzini, C., Doneda, C., Re, T. J. & Righini, A., Oct 1 2014, In : Prenatal Diagnosis. 34, 10, p. 1015-1017 3 p.

Research output: Contribution to journalArticle

2013

Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis

Cesaretti, C., Melloni, G., Quagliarini, D., Fogliani, R., Zaina, B., Bedeschi, M. F., Lalatta, F., Trespidi, L. & Natacci, F., Feb 2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 386-388 3 p.

Research output: Contribution to journalArticle

Partial trisomy 13 and partial monosomy 8 mosaicism secondary to an unbalanced de novo translocation: Highlighting an uncommon chromosomal abnormality

Baranello, G., Cesaretti, C., Zambonin, F., Casalone, R., Granata, P., Esposito, S., Alfei, E. & Natacci, F., Nov 2013, In : Journal of Child Neurology. 28, 11, p. 1463-1466 4 p.

Research output: Contribution to journalArticle

2012

Does absolute excess of alpha chains compromise the benefit of splenectomy in patients with thalassemia intermedia?

Graziadei, G., Refaldi, C., Barcellini, W., Cesaretti, C., Cassinero, E., Musallam, K. M. & Cappellini, M. D., Jan 1 2012, In : Haematologica. 97, 1, p. 151-153 3 p.

Research output: Contribution to journalArticle

2011

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations

Cesaretti, C., Gentilin, B., Bianchi, V., Melloni, G., Bonaguro, M., Rossi, C., Meazzini, C., Brusati, R. & Lalatta, F., Oct 2011, In : Clinical Dysmorphology. 20, 4, p. 229-231 3 p.

Research output: Contribution to journalArticle

2010

Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: An MRI T2* study

Roghi, A., Cappellini, M. D., Wood, J. C., Musallam, K. M., Patrizia, P., Fasulo, M. R., Cesaretti, C. & Taher, A. T., Jun 2010, In : Annals of Hematology. 89, 6, p. 585-589 5 p.

Research output: Contribution to journalArticle

Splenectomy and thrombosis: The case of thalassemia intermedia

Taher, A. T., Musallam, K. M., Karimi, M., El-Beshlawy, A., Belhoul, K., Daar, S., Saned, M., Cesaretti, C. & Cappellini, M. D., Oct 2010, In : Journal of Thrombosis and Haemostasis. 8, 10, p. 2152-2158 7 p.

Research output: Contribution to journalArticle

2009

Novel human pathological mutations. Gene symbol: HBB. Disease: haemoglobin variant.

Refaldi, C., Cesaretti, C., Fasulo, M. R. & Cappellini, M. D., Aug 2009, In : Human Genetics. 126, 2, p. 343 1 p.

Research output: Contribution to journalArticle

Novel human pathological mutations. Gene symbol: HBA2. Disease: Thalassemia alpha.

Refaldi, C., Fasulo, M. R., Cesaretti, C. & Cappellini, M. D., Aug 2009, In : Human Genetics. 126, 2, p. 342 1 p.

Research output: Contribution to journalArticle

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Di Pierro, E., Besana, V., Brancaleoni, V., Fasulo, M. R., Cesaretti, C. & Cappellini, M. D., Apr 2009, In : Human Genetics. 125, 3, p. 347 1 p.

Research output: Contribution to journalArticle

2008

Pregnancy outcome in patients with β-thalassemia intermedia at two tertiary care centers, in Beirut and Milan

Nassar, A. H., Naja, M., Cesaretti, C., Eprassi, B., Cappellini, M. D. & Taher, A., Oct 2008, In : Haematologica. 93, 10, p. 1586-1587 2 p.

Research output: Contribution to journalArticle