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2020
Open Access
2019

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Gnoli, M., Staals, E. L., Campanacci, L., Bedeschi, M. F., Faletra, F., Gallone, S., Gaudio, A., Mattina, T., Gurrieri, F., Percesepe, A., Neri, I., Virdi, A., Tremosini, M., Milanesi, A., Brizola, E., Pedrini, E. & Sangiorgi, L., Jan 1 2019, In : Calcified Tissue International. 105, 2, p. 215-221

Research output: Contribution to journalArticle

Open Access

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Gnoli, M., Staals, E. L., Campanacci, L., Bedeschi, M. F., Faletra, F., Gallone, S., Gaudio, A., Mattina, T., Gurrieri, F., Percesepe, A., Neri, I., Virdi, A., Tremosini, M., Milanesi, A., Brizola, E., Pedrini, E. & Sangiorgi, L., Aug 2019, In : Calcified Tissue International. 105, 2, p. 215-221 7 p.

Research output: Contribution to journalArticle

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Gnoli, M., Staals, E. L., Campanacci, L., Bedeschi, M. F., Faletra, F., Gallone, S., Gaudio, A., Mattina, T., Gurrieri, F., Percesepe, A., Neri, I., Virdi, A., Tremosini, M., Milanesi, A., Brizola, E., Pedrini, E. & Sangiorgi, L., Aug 2019, In : Calcified Tissue International. 105, 2, p. 215-221 7 p.

Research output: Contribution to journalArticle

Phenotype delineation of ZNF462 related syndrome

Kruszka, P., Hu, T., Hong, S., Signer, R., Cogné, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., Sanchez-Lara, P. A., Kinning, E., Adams, D. J., Treat, K., Torres-Martinez, W., Bedeschi, M. F., Iascone, M., Blaney, S. & 12 others, Bell, O., Tan, T. Y., Delrue, M. A., Jurgens, J., Barry, B. J., Engle, E. C., Savage, S. K., Fleischer, N., Martinez-Agosto, J. A., Boycott, K., Zackai, E. H. & Muenke, M., Oct 1 2019, In : American journal of medical genetics. Part A. 179, 10, p. 2075-2082 8 p.

Research output: Contribution to journalArticle

The spatiotemporal organization of episodic memory and its disruption in a neurodevelopmental disorder

Mastrogiuseppe, M., Bertelsen, N., Bedeschi, M. F. & Lee, S. A., Dec 5 2019, In : Scientific Reports. 9, 1, 18447.

Research output: Contribution to journalArticle

2018

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

Di Francesco, J. C., Isimbaldi, G., Bedeschi, M. F. & Castellotti, B., Jan 1 2018, In : BMJ Case Reports. 2018, 223390.

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D'Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M. F., Sangiorgi, L., Rohrbach, M. & Giunta, C., 2018, In : Calcified Tissue International. 102, 3, p. 373-379 7 p.

Research output: Contribution to journalArticle

2017

Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study

Lunati, M. E., Bedeschi, M. F., Resi, V., Grancini, V., Palmieri, E., Salera, S., Lalatta, F., Pugliese, G. & Orsi, E., Oct 1 2017, In : PLoS One. 12, 10, e0185371.

Research output: Contribution to journalArticle

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Bedeschi, M. F., Marangi, G., Calvello, M. R., Ricciardi, S., Leone, F. P. C., Baccarin, M., Guerneri, S., Orteschi, D., Murdolo, M., Lattante, S., Frangella, S., Keena, B., Harr, M. H., Zackai, E. & Zollino, M., Nov 1 2017, In : European Journal of Medical Genetics. 60, 11, p. 565-571 7 p.

Research output: Contribution to journalArticle

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M. F., Sangiorgi, L., Rohrbach, M. & Giunta, C., Nov 3 2017, In : Calcified Tissue International. p. 1-7 7 p.

Research output: Contribution to journalArticle

Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases

Bedeschi, M. F., Calvello, M., Paganini, L., Pezzani, L., Baccarin, M., Fontana, L., Sirchia, S. M., Guerneri, S., Canazza, L., Leva, E., Colombo, L., Lalatta, F., Mosca, F., Tabano, S. & Miozzo, M., Oct 18 2017, In : BMC Medical Genetics. 18, 1, 115.

Research output: Contribution to journalArticle

STAR syndrome plus: The first description of a female patient with the lethal form

Bedeschi, M. F., Giangiobbe, S., Paganini, L., Tabano, S., Silipigni, R., Colombo, L., Crippa, B. L., Lalatta, F., Guerneri, S. & Miozzo, M., 2017, In : American Journal of Medical Genetics, Part A. 173, 12, p. 3226-3230

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, M., D’Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M. M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D’Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D’Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, M., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tuettelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 1 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

2016

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni, L., Novelli, A., Brisighelli, G., Peron, A., Triulzi, F. M., Bianchi, V., Leva, E. & Bedeschi, M. F., 2016, In : Cytogenetic and Genome Research. 150, 1, p. 23-28 6 p.

Research output: Contribution to journalArticle

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni, L., Novelli, A., Brisighelli, G., Peron, A., Triulzi, F., Bianchi, V., Leva, E. & Bedeschi, M. F., 2016, In : Cytogenetic and Genome Research. 150, 1, p. 23-28 6 p.

Research output: Contribution to journalArticle

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C. M., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V., Bossi, S., Musante, I., Valle, M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, A. M., Lerone, M., Ravazzolo, R. & Puliti, A., 2016, In : BMC Medical Genetics. 17, 1

Research output: Contribution to journalArticle

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F. & Lalatta, F., Aug 31 2016, In : Italian Journal of Pediatrics. 42, 1, 76.

Research output: Contribution to journalArticle

Fetal growth patterns in Beckwith–Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Silengo, M. C., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Jul 1 2016, In : Clinical Genetics. 90, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

Fetal growth patterns in Beckwith–Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Silengo, M. C., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Jul 1 2016, In : Clinical Genetics. 90, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

Fetal growth patterns in Beckwith–Wiedemann syndrome

Mussa, A., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Silengo, M. C., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Jul 1 2016, In : Clinical Genetics. 90, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

Moncini, S., Castronovo, P., Murgia, A., Russo, S., Bedeschi, M. F., Lunghi, M., Selicorni, A., Bonati, M. T., Riva, P. & Venturin, M., Apr 1 2016, In : Journal of Human Genetics. 61, 4, p. 283-293 11 p.

Research output: Contribution to journalArticle

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

Moncini, S., Castronovo, P., Murgia, A., Russo, S., Bedeschi, M. F., Lunghi, M., Selicorni, A., Bonati, M. T., Riva, P. & Venturin, M., Apr 1 2016, In : Journal of Human Genetics. 61, 4, p. 283-293 11 p.

Research output: Contribution to journalArticle

Moebius syndrome: Clinical features, diagnosis, management and early intervention

Picciolini, O., Porro, M., Cattaneo, E., Castelletti, S., Masera, G., Mosca, F. & Bedeschi, M. F., Jun 3 2016, In : Italian Journal of Pediatrics. 42, 1, 42.

Research output: Contribution to journalArticle

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios

Boito, S., Crovetto, F., Ischia, B., Crippa, B. L., Fabietti, I., Bedeschi, M. F., Lalatta, F., Colombo, L., Mosca, F., Fedele, L. & Persico, N., Aug 1 2016, In : Prenatal Diagnosis. 36, 8, p. 726-730 5 p.

Research output: Contribution to journalArticle

2015

Congenital midline cervical cleft: Clinical approach to a congenital anterior neck defect

Crippa, B. L., Bedeschi, M. F., Cantarella, G., Colombo, L., Agosti, V., Amodeo, I., Fumagalli, M., Mazzola, I. & Mosca, F., May 1 2015, In : Congenital Anomalies. 55, 2, p. 112-115 4 p.

Research output: Contribution to journalArticle

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L. & Gervasini, C., Nov 1 2015, In : Clinical Genetics. 88, 5, p. 431-440 10 p.

Research output: Contribution to journalArticle

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

Ronzoni, L., Peron, A., Bianchi, V., Baccarin, M., Guerneri, S., Silipigni, R., Lalatta, F. & Bedeschi, M. F., Jul 1 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1551-1559 9 p.

Research output: Contribution to journalArticle

2014

Ehlers-Danlos syndrome versus cleidocranial dysplasia

Bedeschi, M. F., Bonarrigo, F., Manzoni, F., Milani, D., Piemontese, M. R., Guez, S. & Esposito, S., May 24 2014, In : Italian Journal of Pediatrics. 40, 1, 49.

Research output: Contribution to journalArticle

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Micale, L., Augello, B., Maffeo, C., Selicorni, A., Zucchetti, F., Fusco, C., De Nittis, P., Pellico, M. T., Mandriani, B., Fischetto, R., Boccone, L., Silengo, M., Biamino, E., Perria, C., Sotgiu, S., Serra, G., Lapi, E., Neri, M., Ferlini, A., Cavaliere, M. L. & 19 others, Chiurazzi, P., Monica, M. D., Scarano, G., Faravelli, F., Ferrari, P., Mazzanti, L., Pilotta, A., Patricelli, M. G., Bedeschi, M. F., Benedicenti, F., Prontera, P., Toschi, B., Salviati, L., Melis, D., Di Battista, E., Vancini, A., Garavelli, L., Zelante, L. & Merla, G., 2014, In : Human Mutation. 35, 7, p. 841-850 10 p.

Research output: Contribution to journalArticle

Prenatal and postnatal findings in five cases of Fryns syndrome

Peron, A., Bedeschi, M. F., Fabietti, I., Baffero, G. M., Fogliani, R., Ciralli, F., Mosca, F., Rizzuti, T., Leva, E. & Lalatta, F., Dec 1 2014, In : Prenatal Diagnosis. 34, 12, p. 1227-1230 4 p.

Research output: Contribution to journalArticle

Unusual prenatal presentation of rubinstein-taybi syndrome: A case report

Bedeschi, M. F., Crippa, B. L., Colombo, L., Guez, S., Cerruti, M., Fogliani, R., Gervasini, C. & Lalatta, F., 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2663-2666 4 p.

Research output: Contribution to journalArticle

2013

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

Moncini, S., Bedeschi, M. F., Castronovo, P., Crippa, M., Calvello, M., Garghentino, R. R., Scuvera, G., Finelli, P. & Venturin, M., Dec 2013, In : Meta Gene. 1, p. 102-108 7 p.

Research output: Contribution to journalArticle

Balance function in patients with Williams syndrome

Barozzi, S., Soi, D., Gagliardi, C., Selicorni, A., Bedeschi, M. F., Forti, S., Di Berardino, F., Cesarani, A. & Brambilla, D., Jun 2013, In : Gait and Posture. 38, 2, p. 221-225 5 p.

Research output: Contribution to journalArticle

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

Unger, S., Górna, M. W., Le Béchec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoothiri, S., Nishimura, G., Petrella, D., Rojas-Ringeling, F., Utsunomiya, A., Zabel, B., Pradervand, S., Harshman, K., Campos-Xavier, B. & 4 others, Bonafé, L., Superti-Furga, G., Stevenson, B. & Superti-Furga, A., Jun 6 2013, In : American Journal of Human Genetics. 92, 6, p. 990-995 6 p.

Research output: Contribution to journalArticle