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A boy with acute strabismus

Poropat, F., Ventura, G., Murru, F. M., Orzan, E. & Maschio, M., Dec 2012, In : Journal of Pediatrics. 161, 6

Research output: Contribution to journalArticle

A boy with fever, cough and gross haematuria

Cozzi, G., Maschio, M., Poillucci, G., Pennesi, M. & Barbi, E., Aug 28 2017, In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalArticle

Hematuria
Cough
Fever
Bacterial Pneumonia
Hypoventilation

A boy with idiopathic interstitial lung disease

Montella, S., Rossi, G. A., Gambini, C., Pettinato, G., Parisi, F. & Santamaria, F., Feb 2002, In : Italian Journal of Pediatrics. 28, 1, p. 57-60 4 p.

Research output: Contribution to journalArticle

Heart-Lung Transplantation
Spirometry
Interstitial Lung Diseases
Immunosuppressive Agents
Respiratory Tract Infections

A boy with sudden headache

Norbedo, S., Naviglio, S., Murru, F. M., Cavallin, R., Giurici, N., Rabusin, M. & Barbi, E., 2014, In : Pediatric Emergency Care. 30, 3, p. 182-184 3 p.

Research output: Contribution to journalArticle

Paraganglioma
Headache
Genetic Testing
Pheochromocytoma
Catecholamines

A boy with unexplained recurrent abdominal pain

Copertino, M., Pederiva, F., Barbieri, F., Codrich, D., Gregori, M. & Ventura, A., Dec 2013, In : Journal of Pediatrics. 163, 6

Research output: Contribution to journalArticle

A brain and heart connection: X-linked periventricular heterotopia

Naviglio, S., Bruno, I., Zanus, C., Faletra, F. & Ventura, A., Mar 1 2015, In : Journal of Pediatrics. 166, 3, p. 776 1 p.

Research output: Contribution to journalArticle

A brief review of genetic approaches to the study of food preferences: Current knowledge and future directions

Robino, A., Concas, M. P., Catamo, E. & Gasparini, P., Jan 1 2019, In : Nutrients. 11, 8, 1735.

Research output: Contribution to journalArticle

Open Access
Food Preferences
food choices
Smell
smell
Health

Abrupt intracardiac growth of a wilms tumor

Gortani, G., Anzini, M., Berton, E., Rabusin, M., Murru, F. & Benettoni, A., Sep 2013, In : Journal of Pediatrics. 163, 3

Research output: Contribution to journalArticle

Abscisic acid ameliorates the systemic sclerosis fibroblast phenotype in vitro

Bruzzone, S., Battaglia, F., Mannino, E., Parodi, A., Fruscione, F., Basile, G., Salis, A., Sturla, L., Negrini, S., Kalli, F., Stringara, S., Filaci, G., Zocchi, E. & Fenoglio, D., May 25 2012, In : Biochemical and Biophysical Research Communications. 422, 1, p. 70-74 5 p.

Research output: Contribution to journalArticle

Abscisic Acid
Systemic Scleroderma
Fibroblasts
Phenotype
Healthy Volunteers

Abscisic acid is an endogenous stimulator of insulin release from human pancreatic islets with cyclic ADP ribose as second messenger

Bruzzone, S., Bodrato, N., Usai, C., Guida, L., Moreschi, I., Nano, R., Antonioli, B., Fruscione, F., Magnone, M., Scarfì, S., De Flora, A. & Zocchi, E., Nov 21 2008, In : Journal of Biological Chemistry. 283, 47, p. 32188-32197 10 p.

Research output: Contribution to journalArticle

Cyclic ADP-Ribose
Abscisic Acid
Second Messenger Systems
Islets of Langerhans
Insulin

Absence of Bruton's tyrosine kinase (Btk) mutations in patients with acute myeloid leukaemia

Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., Rossi, P., Kartalis, G., Bourikas, G. & Sideras, P., 1998, In : British Journal of Haematology. 102, 5, p. 1241-1248 8 p.

Research output: Contribution to journalArticle

Acute Myeloid Leukemia
Mutation
Cell Lineage
Protein-Tyrosine Kinases
B-Lymphocytes

Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Dallapiccola, B., Alimena, G., Brinchi, V., Isacchi, G. & Gandini, E., 1980, In : Cancer Genetics and Cytogenetics. 2, 4, p. 349-360 12 p.

Research output: Contribution to journalArticle

Fanconi Anemia
Chromosomal Instability
Chromosomes
Chromosomes, Human, Pair 1
Lymphocytes

Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women

Semprini, S., Mango, R., Brancati, F., Dallapiccola, B., Becherini, L., Novelli, G., De Lorenzo, A., Brandi, M. L. & Gennari, L., 2000, In : Calcified Tissue International. 67, 1, p. 93-94 2 p.

Research output: Contribution to journalArticle

Bone Morphogenetic Protein 4
Postmenopausal Osteoporosis
Osteoporosis
Bone Morphogenetic Proteins
Inborn Genetic Diseases

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

Savoia, A., Noris, P., Perrotta, S., Punzo, F., Rocco, D. D., Oostra, B. A. & Balduini, C. L., Feb 2009, In : Platelets. 20, 1, p. 72-73 2 p.

Research output: Contribution to journalArticle

Absence of HTLV-I/II infection in blood donors with positive and inconclusive HTLV-I/II serology.

Re, M. C., Furlini, G., Ramazzotti, E., Vignoli, M., Zauli, G., Lolli, S., Monari, P., Belletti, D., Nanetti, A. & La Placa, M., Oct 1992, In : Microbiologica. 15, 4, p. 329-336 8 p.

Research output: Contribution to journalArticle

Serology
Blood Donors
Leukemia
Viruses
Infection

Absence of IL-12RΒ2 in CD33 + CD38 + pediatric acute myeloid leukemia cells favours progression in NOD/SCID/IL2RγC- deficient mice

Ferretti, E., Montagna, D., Di Carlo, E., Cocco, C., Ribatti, D., Ognio, E., Sorrentino, C., Lisini, D., Bertaina, A., Locatelli, F., Pistoia, V. & Airoldi, I., Feb 2012, In : Leukemia. 26, 2, p. 225-235 11 p.

Research output: Contribution to journalArticle

Interleukins
Myeloid Cells
Acute Myeloid Leukemia
Interleukin-12
Pediatrics

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree

Krajinovic, M., Mestroni, L., Severini, G. M., Pinamonti, B., Camerini, F., Falaschi, A. & Giacca, M., Oct 1994, In : Journal of Medical Genetics. 31, 10, p. 766-771 6 p.

Research output: Contribution to journalArticle

Dilated Cardiomyopathy
Pedigree
Immunoglobulin Light Chains
Adenine Nucleotide Translocator 1
Genes

Absence of maternal microchimerism in very early onset inflammatory bowel disease R1 [4]

Boniotto, M., Berti, I., Santon, D., Ventura, A. & Crovella, S., 2006, In : Journal of Gastroenterology and Hepatology. 21, 6, p. 1082-1084 3 p.

Research output: Contribution to journalArticle

Absence of metabolic cross-correction in Tay-Sachs cells: Implications for gene therapy

Martino, S., Emiliani, C., Tancini, B., Severini, G. M., Chigorno, V., Bordignon, C., Sonnino, S. & Orlacchio, A., Jun 7 2002, In : Journal of Biological Chemistry. 277, 23, p. 20177-20184 8 p.

Research output: Contribution to journalArticle

Gene therapy
Genetic Therapy
Hexosaminidase A
Enzymes
Fibroblasts

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy

Nabbout, R., Kozlovski, A., Gennaro, E., Bahi-Buisson, N., Zara, F., Chiron, C., Bianchi, A., Brice, A., Leguern, E. & Dulac, O., Oct 2003, In : Epilepsy Research. 56, 2-3, p. 127-133 7 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Mutation
Genes
Seizures
Fever

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Ion, A., Tartaglia, M., Song, X., Kalidas, K., Van Der Burgt, I., Shaw, A. C., Ming, J. E., Zampino, G., Zackai, E. H., Dean, J. C. S., Somer, M., Parenti, G., Crosby, A. H., Patton, M. A., Gelb, B. D. & Jeffery, S., Oct 2002, In : Human Genetics. 111, 4-5, p. 421-427 7 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Mutation
Non-Receptor Protein Tyrosine Phosphatases
Skin Abnormalities
Genes

Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis

Muzza, M., Persani, L., Filippis, T. D., Gastaldi, R., Vigone, M. C., Sala, D., Weber, G., Lorini, R., Beck-Peccoz, P. & Fugazzola, L., Nov 2008, In : Clinical Endocrinology. 69, 5, p. 828-829 2 p.

Research output: Contribution to journalArticle

Absence of the left portal vein: A difficulty for reduction of liver grafts?

Mitchell, A., Mirza, D., De Goyet, J. D. V. & Buckels, J., Apr 27 2000, In : Transplantation. 69, 8, p. 1731-1732 2 p.

Research output: Contribution to journalArticle

Portal Vein
Transplants
Liver
Transplantation
Umbilicus
Tibial Nerve
Somatosensory Evoked Potentials
Median Nerve
Pons

Absorbable stabilisation of the bar in minimally invasive repair of pectus excavatum

Torre, M., Jasonni, V., Asquasciati, C., Costanzo, S., Romanini, M. V. & Varela, P., Dec 2008, In : European Journal of Pediatric Surgery. 18, 6, p. 407-409 3 p.

Research output: Contribution to journalArticle

Funnel Chest
Seroma
Skin
Steel
Cimetidine

Absorbed dose measurements from a 90Y radionuclide liquid solution using LiF:Mg,Cu,P thermoluminescent dosimeters

D'Arienzo, M., Pimpinella, M., De Coste, V., Capogni, M., Ferrari, P., Mariotti, F., Iaccarino, G., Ungania, S. & Strigari, L., Jan 2020, In : Physica Medica. 69, p. 127-133 7 p.

Research output: Contribution to journalArticle

Open Access
Radioisotopes
radioactive isotopes
Uncertainty
dosimeters
Polymethyl Methacrylate

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

Callea, M., Eric Willoughby, C., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Mar 2017, In : Investigacion Clinica. 58, 1, p. 70-8 9 p.

Research output: Contribution to journalArticle

Marfan Syndrome
Eye Manifestations
Phenotype
Mutation
Connective Tissue Diseases

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 61 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L., Rogaeva, E. & International FTD-Genomics Consortium (IFGC), 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

Age of Onset
DNA Methylation
HLA-DRB1 Chains
Alleles
Single Nucleotide Polymorphism

A cardiovascular simulator tailored for training and clinical uses

Fresiello, L., Ferrari, G., Di Molfetta, A., Zieliński, K., Tzallas, A., Jacobs, S., Darowski, M., Kozarski, M., Meyns, B., Katertsidis, N. S., Karvounis, E. C., Tsipouras, M. G. & Trivella, M. G., Oct 1 2015, In : Journal of Biomedical Informatics. 57, p. 100-112 13 p.

Research output: Contribution to journalArticle

Heart-Assist Devices
Simulators
Hemodynamics
Cardiovascular Diseases
Drug infusion

A case-control study on proinflammatory genetic polymorphisms on sudden sensorineural hearing loss

Cadoni, G., Gaetani, E., Picciotti, P. M., Arzani, D., Quarta, M., Giannantonio, S., Paludetti, G. & Boccia, S., Jan 1 2015, In : Laryngoscope. 125, 1, p. E28-E32

Research output: Contribution to journalArticle

Sudden Hearing Loss
Sensorineural Hearing Loss
Genetic Polymorphisms
Case-Control Studies
Interleukin-6

A case of acute lymphoblastic leukemia presenting as severe hypercalcemia

Buonuomo, P. S., Ruggiero, A., Piastra, M., Riccardi, R., Polidori, G. & Chiaretti, A., Sep 2004, In : Pediatric Hematology and Oncology. 21, 6, p. 475-479 5 p.

Research output: Contribution to journalArticle

Hypercalcemia
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Furosemide
Diphosphonates
Hospital Emergency Service

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Zollino, M., Orteschi, D., Marangi, G., De Crescenzo, A., Pecile, V., Riccio, A. & Neri, G., Jun 2010, In : Journal of Medical Genetics. 47, 6, p. 429-432 4 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Methylation
Macroglossia
Mothers
Chromosome Deletion

A case of Beckwith-Wiedemann syndrome with peculiar dental findings

Callea, M., Yavuz, I., Clarich, G., Gunay, A., Vinciguerra, A., Unal, M., Sahbaz, C., Sinan Dogan, M. & Cammarata-Scalisi, F., Dec 2016, In : European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry. 17, 4, p. 315-317 3 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Oral Manifestations
Genetic Databases
Inborn Genetic Diseases
Tooth

A case of Beckwith- Wiedemann syndrome with peculiar dental findings

Callea, F., Yavuz, I., Clarich, G., Gunay, A., Vinciguerra, A., Unal, M., Sahbaz, C., Sinan Dogan, M. & Cammarata-Scalisi, F., 2016, In : European Journal of Paediatric Dentistry. 17, 4, p. 315-317 3 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Oral Manifestations
Genetic Databases
Inborn Genetic Diseases
Tooth

A case of body stalk anomaly at 10 weeks of gestation

Paladini, D., Tartaglione, A., Agangi, A., Foglia, S., Martinelli, P. & Nappi, C., 2001, In : Ultrasound in Obstetrics and Gynecology. 17, 2, p. 157-159 3 p.

Research output: Contribution to journalArticle

fetuses
Amnion
Fetus
anomalies
Pregnancy

A case of cholera imported from Senegal to Rimini, Italy, June 2005.

degli Atti, M. C., Finarelli, A. C., Pompa, M. G., Toni, F., Bella, A., Callipari, O. & Luzzi, I., 2005, In : Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin. 10, 6

Research output: Contribution to journalArticle

A case of chronic recurrent multifocal osteomyelitis successfully treated with neridronate

De Cunto, A., Maschio, M., Lepore, L. & Zennaro, F., Jan 2009, In : Journal of Pediatrics. 154, 1, p. 154-155 2 p.

Research output: Contribution to journalArticle

A case of chylous dysplasia causing a serious condition immunodeficiency

Francesco, B., Carlo, B., Chiara, B., Corrado, C., Emanuela, B. & Corradino, C., Jun 2009, In : European Journal of Lymphology and Related Problems. 20, 56, p. 23-25 3 p.

Research output: Contribution to journalArticle

Common Variable Immunodeficiency
Lymphography
Immunoglobulins
Diarrhea
Protein-Losing Enteropathies

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Luigetti, M., Modoni, A., Renna, R., Silvestri, G., Ricci, E., Montano, N., Tasca, G., Papacci, M., Monforte, M., Conte, A., Pomponi, M. G. & Sabatelli, M., Nov 2010, In : Clinical Neurology and Neurosurgery. 112, 9, p. 794-797 4 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Myelin P0 Protein
Myelin Proteins
Mutation
Gene Duplication

A case of congenital hypothyroidism in PHACE syndrome

Carinci, S., Tumini, S., Consilvio, N. P., Cipriano, P., Di Stefano, A., Vercellino, N., Dalmonte, P. & Chiarelli, F., Jun 1 2012, In : Journal of Pediatric Endocrinology and Metabolism. 25, 5-6, p. 603-605 3 p.

Research output: Contribution to journalArticle

Congenital Hypothyroidism
Hemangioma
Neurocutaneous Syndromes
Sternum
Blood Vessels

A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line

Pellegrini, G., Barbieri, S., Moggio, M., Cheldi, A., Scarlato, G. & Minetti, C., 1985, In : Neuropediatrics. 16, 3, p. 162-166 5 p.

Research output: Contribution to journalArticle

Neuromuscular Diseases
Muscles
Nemaline Myopathies
Mitochondrial Myopathies
Denervation

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Di Rocco, M., Caruso, U., Briem, E., Rossi, A., Allegri, A. E. M., Buzzi, D. & Tiranti, V., Dec 2006, In : Molecular Genetics and Metabolism. 89, 4, p. 395-397 3 p.

Research output: Contribution to journalArticle

Metabolic Diseases
Connective Tissue
Blood Vessels
Genes
Joints

A case of familial hemiplegic migraine associated with a novel atp1a2 gene mutation

De Cunto, A., Bensa, M. & Tonelli, A., Aug 2012, In : Pediatric Neurology. 47, 2, p. 133-136 4 p.

Research output: Contribution to journalArticle

Migraine with Aura
Migraine Disorders
Flunarizine
Sodium-Potassium-Exchanging ATPase
Mutation
Open Access
Shiga Toxin 2
Shiga-Toxigenic Escherichia coli
Hemolytic-Uremic Syndrome
Nurseries
Italy

A case of Hennekam syndrome diagnosed at birth

Bellini, C., Arioni, C., Mazzella, M., Campisi, C. & Serra, G., Feb 2002, In : Italian Journal of Pediatrics. 28, 1, p. 61-64 4 p.

Research output: Contribution to journalArticle

Lymphedema
Intestinal Lymphangiectasis
Parturition
Scrotum
Penis

A case of infant botulism in a 4-month-old baby

Sabatini, D., Papetti, L., Lonati, D., Anniballi, F., Auricchio, B., Properzi, E. & Grassi, M. C., Jan 1 2016, In : QJM - Monthly Journal of the Association of Physicians. 109, 1, p. 47-48 2 p., hcv061.

Research output: Contribution to journalArticle

A case of infant botulism in a 4-month-old baby

Sabatini, D., Papetti, L., Lonati, D., Anniballi, F., Auricchio, B., Properzi, E. & Grassi, M. C., Mar 13 2015, In : QJM. 109, 1, p. 47-48 2 p., hcv061.

Research output: Contribution to journalArticle

A case of large uterine myoma in a 14-year-old girl

Maggiore, U. L. R., Ferrero, S., Bogliolo, S., Fulcheri, E., Musizzano, Y. & Menada, M. V., Apr 1 2013, In : Journal of Gynecologic Surgery. 29, 2, p. 83-87 5 p.

Research output: Contribution to journalArticle

Myoma
Abdominal Pain
Leuprolide
Back Pain
Triptorelin Pamoate