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Research Output 1988 2019

2019
Exome
Cost-Benefit Analysis
diagnostic
costs
Sick Role

Dissecting the mechanisms of bone loss in Gorham-Stout disease

Rossi, M., Buonuomo, P. S., Battafarano, G., Conforti, A., Mariani, E., Algeri, M., Pelle, S., D'Agostini, M., Macchiaiolo, M., De Vito, R., Gonfiantini, M. V., Jenkner, A., Rana, I., Bartuli, A. & Del Fattore, A., Sep 13 2019, In : Bone. p. 115068

Research output: Contribution to journalArticle

Essential Osteolysis
Bone and Bones
Osteoclasts
Serum
Osteoblasts
Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability
2018

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

LIPIGEN Group, Oct 1 2018, In : Atherosclerosis. 277, p. 413-418 6 p.

Research output: Contribution to journalArticle

Hyperlipoproteinemia Type II
Lipids
Population
Premature Birth
Dyslipidemias

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Casula, M., Olmastroni, E., Pirillo, A., Catapano, A. L., Group, LIPIGEN., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F. & 86 others, Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Lupi, A., Mandraffino, G., Marcucci, R., Maroni, L., Miccoli, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbà, C., Sampietro, T., Sarzani, R., Tagliabue, M. P., Trenti, C., Vigna, G. B., Werba, J. P., Zambon, S., Zenti, M. G., Minicocci, I., Noto, D., Fortunato, G., Banderali, G., Benso, A., Bigolin, P., Bonora, E., Bruzzi, P., Bucci, M., Buonuomo, P. S., Capra, M. E., Cardolini, I., Cefalù, B., Cervelli, N., Chiariello, G., Cocci, G., Colombo, E., Cremonini, A. L., D'addato, S., D'erasmo, L., Dal Pino, B., De Sanctis, L., De Vita, E., Del Ben, M., Di Costanzo, A., Di Taranto, M. D., Fasano, T., Gentile, L., Gentile, M., Ghirardello, O., Grigore, L., Lussu, M., Meregalli, G., Moffa, S., Montalcini, T., Morgia, V., Nascimbeni, F., Pasta, A., Pavanello, C., Saitta, A., Scicali, R., Siepi, D., Spagnolli, W., Spina, R., Sticchi, E., Suppressa, P., Vigo, L., Vinci, P., Manzato, E., Tragni, E. & Zampoleri, V., Oct 2018, In : Atherosclerosis. 277, p. 413-418 6 p.

Research output: Contribution to journalArticle

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

Ranieri, C., Di Tommaso, S., Loconte, D. C., Grossi, V., Sanese, P., Bagnulo, R., Susca, F. C., Forte, G., Peserico, A., De Luisi, A., Bartuli, A., Selicorni, A., Melis, D., Lerone, M., Praticò, A. D., Abbadessa, G., Yu, Y., Schwartz, B., Ruggieri, M., Simone, C. & 1 others, Resta, N., 2018, In : Neurogenetics. 19, 2, p. 77-91 15 p.

Research output: Contribution to journalArticle

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

Ranieri, C., Di Tommaso, S., Loconte, D. C., Grossi, V., Sanese, P., Bagnulo, R., Susca, F. C., Forte, G., Peserico, A., De Luisi, A., Bartuli, A., Selicorni, A., Melis, D., Lerone, M., Praticò, A. D., Abbadessa, G., Yu, Y., Schwartz, B., Ruggieri, M., Simone, C. & 1 others, Resta, N., May 2018, In : Neurogenetics. 19, 2, p. 77-91 15 p.

Research output: Contribution to journalArticle

Fibroblasts
Phosphatidylinositol 3-Kinases
Sirolimus
Phosphorylation
Mutation

Statins in children: A monocentric experience

Buonuomo, P. S., Mastrogiorgio, G., Macchiaiolo, M., Rana, I., Gonfiantini, M. V., Marafon, D. P. & Bartuli, A., Jul 24 2018, In : Journal of Clinical Lipidology. 12, 5, p. 1326-1327 2 p.

Research output: Contribution to journalArticle

Hyperlipoproteinemia Type II
Blood Component Removal
LDL Cholesterol
Pediatrics
Cardiovascular Diseases
2017
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides

Eruptive Xanthomas in Lipoprotein Lipase Deficiency

Buonuomo, P. S., Malamisura, M., Macchiaiolo, M., Rana, I., Gonfiantini, M. V., Mastrogiorgio, G. & Bartuli, A., Aug 1 2017, In : Journal of Pediatrics. 187, 1 p.

Research output: Contribution to journalArticle

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Arca, M., Averna, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Pellegatta, F., Angelico, F., Arca, M., Averna, M., Bartuli, A. & 31 others, Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Sarzani, R., Werba, J. P., Grigore, L., Buonuomo, P. S., Capra, M. E., Gentile, M., Di Taranto, M. D., Catapano, A. L. & LIPIGEN Group, Oct 1 2017, In : Atherosclerosis Supplements. 29, p. 11-16 6 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Hyperlipoproteinemia Type II
Atherosclerosis
Lipids
Dyslipidemias

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F. & 30 others, Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Sarzani, R., Tagliabue, M. P., Werba, J. P., Grigore, L., Buonuomo, P. S., Capra, M. E., Galbiati, S., Gentile, M., Negri, E. A., Spina, R., Orlando, C. & Di Taranto, M. D., 2017, In : Atherosclerosis Supplements. 29, p. 11-16 6 p.

Research output: Contribution to journalArticle

Fibrinogen gamma chain mutations provoke fibrinogen and apolipoprotein B plasma deficiency and liver storage

Callea, F., Giovannoni, I., Sari, S., Gulda, E., Dalgic, B., Akyol, G., Sogo, T., Al-Hussaini, A., Maggiore, G., Bartuli, A., Boldrini, R., Francalanci, P. & Bellacchio, E., Dec 15 2017, In : International Journal of Molecular Sciences. 18, 12, 2717.

Research output: Contribution to journalArticle

Hypobetalipoproteinemia, Familial, Apolipoprotein B
fibrinogen
Apolipoproteins B
mutations
liver

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma

Cambiaso, P., Galassi, S., Palmiero, M., Mastronuzzi, A., Del Bufalo, F., Capolino, R., Cacchione, A., Buonuomo, P. S., Gonfiantini, M. V., Bartuli, A., Cappa, M. & Macchiaiolo, M., Sep 1 2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2353-2358 6 p.

Research output: Contribution to journalArticle

Optic Nerve Glioma
Neurofibromatosis 1
Growth hormone excess
Growth Hormone
Neoplasms

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Buonuomo, P. S., Rabacchi, C., Macchiaiolo, M., Trenti, C., Fasano, T., Tarugi, P., Bartuli, A., Bertolini, S. & Calandra, S., Sep 28 2017, In : Journal of Clinical Lipidology. 11, 6, p. 1329-1337.e3

Research output: Contribution to journalArticle

Incidental Findings
Hypertriglyceridemia
Lipoprotein Lipase
Triglycerides
Hyperlipoproteinemia Type I

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Buonuomo, P. S., Rabacchi, C., Macchiaiolo, M., Trenti, C., Fasano, T., Tarugi, P., Bartuli, A., Bertolini, S. & Calandra, S., 2017, (Accepted/In press) In : Journal of Clinical Lipidology.

Research output: Contribution to journalArticle

Incidental Findings
Hypertriglyceridemia
Lipoprotein Lipase
Triglycerides
Hyperlipoproteinemia Type I

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Borghesi, A., Mencarelli, M. A., Memo, L., Ferrero, G. B., Bartuli, A., Genuardi, M., Stronati, M., Villani, A., Renieri, A. & Corsello, G., Nov 3 2017, In : Italian Journal of Pediatrics. 43, 1, 100.

Research output: Contribution to journalReview article

Exome
Neonatal Intensive Care Units
Critical Illness
Newborn Infant
Inborn Genetic Diseases

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

their respective Scientific Societies, Nov 3 2017, In : Italian Journal of Pediatrics. 43, 1, p. 100

Research output: Contribution to journalReview article

Exome
Neonatal Intensive Care Units
Critical Illness
Newborn Infant
Inborn Genetic Diseases

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Baylor-Hopkins Center for Mendelian Genomics, Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 815-823 9 p.

Research output: Contribution to journalArticle

Fibronectins
Mutation
Scoliosis
Mutant Proteins
Coxa Vara

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features

Valentini, D., Alisi, A., di Camillo, C., Sartorelli, M. R., Crudele, A., Bartuli, A., Nobili, V. & Villani, A., Oct 1 2017, In : Journal of Pediatrics. 189, p. 92-97.e1

Research output: Contribution to journalArticle

Down Syndrome
Obesity
Pediatrics
Non-alcoholic Fatty Liver Disease
Liver

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A. L., Arca, M., Averna, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Pellegatta, F., Angelico, F., Arca, M., Averna, M., Bartuli, A., Biasucci, G. & 31 others, Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Sarzani, R., Werba, J. P., Grigore, L., Buonuomo, P. S., Capra, M. E., Gentile, M., Di Taranto, M. D., Catapano, A. L. & LIPIGEN Group, Oct 1 2017, In : Atherosclerosis Supplements. 29, p. 17-24 8 p.

Research output: Contribution to journalArticle

Hyperlipoproteinemia Type II
Mutation
Apolipoproteins E
Heterozygote
Italy

Statin-associated myopathy in pediatric settings: Myth or fact?

Buonuomo, P. S., Macchiaiolo, M., Mastrogiorgio, G., Rana, I., Gonfiantini, M. V. & Bartuli, A., Dec 2017, In : Journal of Pediatrics. 191, p. 279

Research output: Contribution to journalArticle

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

De Lorenzo, F., Macchiaiolo, M., Carlevaris, C. M. & Bartuli, A., May 31 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 107.

Research output: Contribution to journalArticle

Williams Syndrome
Literature
Aptitude
Self Concept
Intellectual Disability

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia

Buonuomo, P. S., Iughetti, L., Pisciotta, L., Rabacchi, C., Papadia, F., Bruzzi, P., Tummolo, A., Bartuli, A., Cortese, C., Bertolini, S. & Calandra, S., Jul 1 2017, In : Atherosclerosis. 262, p. 71-77 7 p.

Research output: Contribution to journalArticle

Hypercholesterolemia
Xanthomatosis
LDL Cholesterol
Genes
Phytosterols
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

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

(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

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

(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

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

An 8-month-old infant with persistent stridor

Buonuomo, P. S., Macchiaiolo, M., Bottero, S., Secinaro, A., Mastrogiorgio, G., Scalzone, M., Rana, I., Tomà, P. & Bartuli, A., Feb 1 2016, In : Pediatric Annals. 45, 2, p. e42-e43

Research output: Contribution to journalArticle

Bartonella henselae in Italy: a rare seasonal infection

Mennini, M., Valentini, D., Di Camillo, C., Vittucci, A. C., Grandin, A., Lancella, L., Bartuli, A. & Villani, A., Mar 23 2016, In : Minerva Pediatrica.

Research output: Contribution to journalArticle

Bartonella Infections
Bartonella henselae
Italy
Cats
Ctenocephalides

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 Development
Methylation
Uniparental Disomy
Weights and Measures
Gestational Age

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

Fetal Development
Methylation
Uniparental Disomy
Weights and Measures
Gestational Age

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 Development
Methylation
Uniparental Disomy
Weights and Measures
Gestational Age

Lipid profiles in a large cohort of Italian children with Down syndrome

Buonuomo, P. S., Bartuli, A., Mastrogiorgio, G., Vittucci, A., Di Camillo, C., Bianchi, S., Pires Marafon, D., Villani, A. & Valentini, D., Aug 1 2016, In : European Journal of Medical Genetics. 59, 8, p. 392-395 4 p.

Research output: Contribution to journalArticle

Down Syndrome
Lipids
Population
Epidemiologic Studies
Linear Models

Novel plasminogen and hyaluronate sodium eye drop formulation for a patient with ligneous conjunctivitis

Conforti, F. M., Di Felice, G., Bernaschi, P., Bartuli, A., Bianco, G., Simonetti, A., Buzzonetti, L., Valente, P. & Corsetti, T., Apr 15 2016, In : American Journal of Health-System Pharmacy. 73, 8, p. 556-561 6 p.

Research output: Contribution to journalArticle

Ophthalmic Solutions
Plasminogen
Hyaluronic Acid
Quality of Health Care
Conjunctiva

Pertussis in infants: An underestimated disease

Vittucci, A. C., Spuri Vennarucci, V., Grandin, A., Russo, C., Lancella, L., Tozzi, A. E., Bartuli, A. & Villani, A., Aug 15 2016, In : BMC Infectious Diseases. 16, 1, 414.

Research output: Contribution to journalArticle

Whooping Cough
Real-Time Polymerase Chain Reaction
Bordetella pertussis
Viruses
Bordetella Infections
2015

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene

Buonuomo, P. S., Bartuli, A., Rabacchi, C., Bertolini, S. & Calandra, S., Mar 1 2015, In : Journal of Clinical Lipidology. 9, 2, p. 265-270 6 p.

Research output: Contribution to journalArticle

Hypertriglyceridemia
Triglycerides
Lipoprotein Lipase
Newborn Infant
Mutation

Atherogenic dyslipidemia and cardiovascular risk factors in obese children

D'Adamo, E., Guardamagna, O., Chiarelli, F., Bartuli, A., Liccardo, D., Ferrari, F. & Nobili, V., Jan 12 2015, In : International Journal of Endocrinology. 2015, 912047.

Research output: Contribution to journalArticle

Dyslipidemias
Lipoproteins
Atherosclerosis
Obesity
Body Fat Distribution
Hypotrichosis
Siblings
Hypohidrosis
Hidradenitis Suppurativa
Genetic Databases

Erythropoietic protoporphyria in a boy

Buonuomo, P. S., MacChiaiolo, M., Gonfiantini, M. V., Biolcati, G., Pitisci, A., Villani, A. & Bartuli, A., Jan 1 2015, In : Archives of Disease in Childhood. 100, 1, p. 7 1 p.

Research output: Contribution to journalArticle

Lo screening per ipercolesterolemia in età pediatrica

Translated title of the contribution: Screening for hypercholesterolemia in childrenBuonuomo, P. S., Macchiaiolo, M. & Bartuli, A., 2015, In : Quaderni ACP. 22, 3, p. 121-123 3 p.

Research output: Contribution to journalArticle

Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome

Carsetti, R., Valentini, D., Marcellini, V., Scarsella, M., Marasco, E., Giustini, F., Bartuli, A., Villani, A. & Ugazio, A. G., Mar 1 2015, In : European Journal of Immunology. 45, 3, p. 903-914 12 p.

Research output: Contribution to journalArticle

Down Syndrome
B-Lymphocytes
Cell Count
Aptitude
Immunoglobulin Isotypes

Short-term survival of hyperammonemic neonates treated with dialysis

Picca, S., Dionisi-Vici, C., Bartuli, A., De Palo, T., Papadia, F., Montini, G., Materassi, M., Donati, M. A., Verrina, E., Schiaffino, M. C., Pecoraro, C., Iaccarino, E., Vidal, E., Burlina, A. & Emma, F., May 1 2015, In : Pediatric Nephrology. 30, 5, p. 839-847 9 p.

Research output: Contribution to journalArticle

Renal Dialysis
Dialysis
Newborn Infant
Peritoneal Dialysis
Survival
2014

Corneal arcus as first sign of familial hypercholesterolemia

Macchiaiolo, M., Buonuomo, P. S., Valente, P., Rana, I., Lepri, F. R., Gonfiantini, M. V. & Bartuli, A., Mar 2014, In : Journal of Pediatrics. 164, 3, p. 670 1 p.

Research output: Contribution to journalArticle

Hypercapnic hypoventilation due to tracheobroncomalacia: The success of non-invasive respiratory support with continuous positive airway pressure

Caldarelli, V., Salerno, T., Verrillo, E., Pavone, M., Macchiaiolo, M., Soldini, S., Bartuli, A. & Cutrera, R., 2014, In : Minerva Anestesiologica. 80, 2, p. 259-260 2 p.

Research output: Contribution to journalArticle

Ligneous periodontal lesions in a young child with severe plasminogen deficiency: A case report

Galeotti, A., Uomo, R., D'Antò, V., Valletta, R., Vittucci, A. C., Macchiaiolo, M. & Bartuli, A., 2014, In : European Journal of Paediatric Dentistry. 15, 1, p. 213-214 2 p.

Research output: Contribution to journalArticle

Plasminogen
Gingivitis
Periodontitis
Periodontal Diseases
Gingival Hypertrophy

Long-term follow-up in Stuve-Wiedemann syndrome: A case report with articular involvement

Buonuomo, P. S., MacChiaiolo, M., Cambiaso, P., Rana, I., Digilio, M. C. & Bartuli, A., 2014, In : Clinical Dysmorphology. 23, 2, p. 45-46 2 p.

Research output: Contribution to journalArticle

Joints
Primary Dysautonomias
Genetic Databases
Deglutition
Cause of Death

Persistent neck pain in a girl: Klippel-Feil syndrome

Buonuomo, P. S., Macchiaiolo, M., Colafati, G. S., Rana, I., Tomà, P., Gonfiantini, M. V. & Bartuli, A., Mar 2014, In : Archives of Disease in Childhood. 99, 3, p. 290-291 2 p.

Research output: Contribution to journalArticle

Question 2: Should steroids be used in the treatment of septic arthritis?

Macchiaiolo, M., Buonuomo, P. S., Mennini, M., Villani, A. & Bartuli, A., 2014, In : Archives of Disease in Childhood. 99, 8, p. 785-787 3 p.

Research output: Contribution to journalArticle