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1

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

Francesca De Lorenzo,Marina Macchiaiolo…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 309 KB

english, 2017

2

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

Buonuomo, Paola Sabrina, Rabacchi, Claudio, Macchiaiolo, Marina, Trenti, Chiara, Fasano, Tommaso, Tarugi, Patrizia, Bartuli, Andrea, Bertolini, Stefano, Calandra, Sebastiano

Journal:

Journal of Clinical Lipidology

Year:

2017

Language:

english

File:

PDF, 469 KB

english, 2017

3

Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

Zampino, Giuseppe, Conti, Guido, Balducci, Francesca, Moschini, Massimo, Macchiaiolo, Marina, Mastroiacovo, Pierpaolo

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 926 KB

english, 1996

4

Fast preamplifier for time-of-flight silicon strip detectors operating in the temperature range from 20°C to −55°C

M. Menichelli, M.T. Brunetti, A. Codino, C. Federico, C. Grimani, T. Macchiaiolo, G. Minelli, M. Miozza

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1995

Language:

english

File:

PDF, 288 KB

english, 1995

5

Performance of a time-of-flight silicon strip telescope in the temperature range 20°C to −55°C

A. Codino, M.T. Brunetti, C. Federico, C. Grimani, T. Macchiaiolo, M. Menichelli, G. Minelli, M. Miozza, F. Plouin

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1995

File:

PDF, 692 KB

1995

6

Response of silicon multistrip detectors and a cesium iodide scintillator to a calcium ion beam of 0.5 GeV/u

A. Codino, M. Miozza, M.T. Brunetti, B. Checcucci, C. Federico, C. Grimani, M. Lanfranchi, T. Macchiaiolo, M. Menichelli, P. Maffei, F. Plouin, H. Vocca

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1997

Language:

english

File:

PDF, 1.01 MB

english, 1997

7

An unusual case of anisocoria by vegetal intoxication: a case report

Marina Macchiaiolo, Elettra Vignati, Michaela V Gonfiantini, Annalisa Grandin, Maria Teresa Romano, Michele Salata, Diletta Valentini, Alberto Villani

Journal:

Italian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 484 KB

english, 2010

8

Temperature dependence of time resolution and electronic noise in a silicon detector telescope

A Codino, C Federico, C Grimani, T Macchiaiolo, M Menichelli, G Minelli, M Miozza, M.T Brunetti, F Plouin

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1995

Language:

english

File:

PDF, 530 KB

english, 1995

9

Too late to say it is too early – How to get children with non-cirrhotic metabolic diseases transplanted at the right time?

M. Macchiaiolo, A. Bartuli, P. McKiernan, C. Dionisi-Vici, J. de Ville de Goyet

Journal:

Pediatric Transplantation

Year:

2012

Language:

english

File:

PDF, 66 KB

english, 2012

10

Homozygous familial hypercholesterolaemia

Marina Macchiaiolo, Maria Giulia Gagliardi, Alessandra Toscano, Paolo Guccione, Andrea Bartuli

Journal:

Year:

2012

Language:

english

File:

PDF, 298 KB

english, 2012

11

Acute rheumatic fever with chorea

Buonuomo, P. S., Macchiaiolo, M., Toscano, A., De Benedetti, F., Villani, A., Bartuli, A.

Journal:

Archives of Disease in Childhood

Year:

2013

Language:

english

File:

PDF, 209 KB

english, 2013

12

Corneal Arcus as First Sign of Familial Hypercholesterolemia

Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Valente, Paola, Rana, Ippolita, Lepri, Francesca Romana, Gonfiantini, Michaela Veronika, Bartuli, Andrea

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 320 KB

english, 2014

13

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

Macchiaiolo, M., Buonuomo, P. S., Mennini, M., Villani, A., Bartuli, A.

Journal:

Archives of Disease in Childhood

Year:

2014

Language:

english

File:

PDF, 440 KB

english, 2014

14

Erythropoietic protoporphyria in a boy

Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Gonfiantini, Michaela Veronika, Biolcati, Gianfranco, Pitisci, Angela, Villani, Alberto, Bartuli, Andrea

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 697 KB

english, 2015

15

Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

Macchiaiolo, M., Mennini, M., Digilio, M.C., Buonuomo, P.S., Lepri, F.R., Gnazzo, M., Grandin, A., Angioni, A., Bartuli, A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 689 KB

english, 2014

16

Persistent neck pain in a girl: Klippel-Feil syndrome: Figure 1

Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Colafati, Giovanna Stefania, Rana, Ippolita, Tomà, Paolo, Gonfiantini, Michaela Veronika, Bartuli, Andrea

Journal:

Archives of Disease in Childhood

Year:

2014

Language:

english

File:

PDF, 157 KB

english, 2014

17

Long-term follow-up in Stuve–Wiedemann syndrome

Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Cambiaso, Paola, Rana, Ippolita, Digilio, Maria Cristina, Bartuli, Andrea

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 188 KB

english, 2014

18

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

Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

19

An unusual presentation of tuberous sclerosis

Macchiaiolo, M., Buonuomo, P. S., Longo, D., Valentini, D., Bartuli, A.

Journal:

Archives of Disease in Childhood

Year:

2013

Language:

english

File:

PDF, 118 KB

english, 2013

20

Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009-10 season

Romano, M., Pandolfi, E., Marino, M. G., Gesualdo, F., Rizzo, C., Carloni, E., Macchiaiolo, M., Tozzi, A. E.

Journal:

The European Journal of Public Health

Year:

2012

Language:

english

File:

PDF, 129 KB

english, 2012

21

Pediatric Cholesterol Screening In Italy: The Spif Project†

Buonuomo, Paola Sabrina, Polizzi, Bianca Maria, Macchiaiolo, Marina, Mastrogiorgio, Gerarda, Iughetti, Lorenzo, Scalzone, Maria, Casucci, Paola, Rana, Ippolita, Bartuli, Andrea

Journal:

Journal of Clinical Lipidology

Year:

2016

Language:

english

File:

PDF, 41 KB

english, 2016

22

Pediatric cholesterol screening in Italy: The SPIF project

Buonuomo, P.S., Polizzi, B.M., Macchiaiolo, M., Mastrogiorgio, G., Scalzone, M., Casucci, P., Correra, A., Iughetti, L., Bartuli, A.

Journal:

Atherosclerosis

Year:

2016

Language:

english

File:

PDF, 64 KB

english, 2016

23

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome

Gonfiantini, Michaela Veronika, Armando, Marco, Pucciarini, Maria Laura, Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Diociaiuti, Andrea, Lepri, Francesca Romana, Sirleto, Pietro, Vicari, Stefano, Ba

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.72 MB

english, 2015

24

Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis

Tchidjou, Hyppolite K., Macchiaiolo, Marina, Ariganello, Paola, Carducci, Francesca Calò, De Vito, Rita, De Benedetti, Fabrizio, D’Argenio, Patrizia

Journal:

Blood Coagulation & Fibrinolysis

Year:

2014

Language:

english

File:

PDF, 133 KB

english, 2014

25

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

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 543 KB

english, 2016

26

Cervical lung herniation

Bottaro, Giorgia, Tomà, Paolo, Masci, Marco, Rana, Ippolita, Buonuomo, Paola Sabrina, Macchiaiolo, Marina

Journal:

Archives of Disease in Childhood

Year:

2017

Language:

english

File:

PDF, 187 KB

english, 2017

27

Eruptive Xanthomas in Lipoprotein Lipase Deficiency

Buonuomo, Paola Sabrina, Malamisura, Monica, Macchiaiolo, Marina, Rana, Ippolita, Gonfiantini, Michaela Veronika, Mastrogiorgio, Gerarda, Bartuli, Andrea

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 512 KB

english, 2017

28

Familial Hypercholesterolemia: new therapeutic approaches

Andrea Bartuli,Marina Macchiaiolo,Ippolita Rana…

Journal:

Italian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 237 KB

english, 2015

29

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

Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Mastrogiorgio, Gerarda, Rana, Ippolita, Gonfiantini, Michaela Veronika, Bartuli, Andrea

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

30

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Macchiaiolo, Marina, Barresi, Sabina, Cecconi, Francesco, Zanni, Ginevra, Niceta, Marcello, Bellacchio, Emanuele, Lazzarino, Giacomo, Amorini, Angela Maria, Bertini, Enrico Silvio, Rizza, Salvatore, C

Journal:

Italian Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 770 KB

english, 2017

31

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience

Buonuomo, Paola S, Macchiaiolo, Marina, Leone, Giovanna, Valente, Paola, Mastrogiorgio, Gerarda, Gnazzo, Maria, Rana, Ippolita, Gonfiantini, Michaela V, Gagliardi, Maria G, Romano, Francesca, Bartuli,

Journal:

European Journal of Preventive Cardiology

Year:

2018

Language:

english

File:

PDF, 480 KB

english, 2018

32

Statins in children: a monocentric experience

Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Macchiaiolo, Marina, Rana, Ippolita, Gonfiantini, Michaela Veronika, Marafon, Denise Pires, Bartuli, Andrea

Journal:

Journal of Clinical Lipidology

Year:

2018

Language:

english

File:

PDF, 160 KB

english, 2018

33

Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement

Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid, Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert,

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 2.82 MB

2019

34

Dissecting the mechanisms of bone loss in Gorham-Stout disease

Rossi, Michela, Buonuomo, Paola Sabrina, Battafarano, Giulia, Conforti, Antonella, Mariani, Eda, Algeri, Mattia, Pelle, Simone, D'Agostini, Matteo, Macchiaiolo, Marina, De Vito, Rita, Gonfiantini, Mic

Journal:

Year:

2019

Language:

english

File:

PDF, 742 KB

english, 2019

35

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Bordi, Matteo, Testa, Beatrice, Weber, Gerrit, Bellacchio, Emanuele, Tartaglia, Marco, Cecconi, Francesco, Bartuli, Andrea

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 330 KB

2020

36

New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)

Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Carletti, Michaela, Rana, Ippolita, Macchiaiolo, Marina, Gonfiantini, Michaela Veronika, Vecchio, Davide, Porzio, Ottavia, Bartuli, Andrea

Journal:

Pediatric Cardiology

Year:

2020

File:

PDF, 354 KB

2020

37

Diffuse infantile hepatic hemangiomas in a patient with BeckwithâWiedemann syndrome: A new association?

Macchiaiolo, Marina, Markowich, Anna H., Diociaiuti, Andrea, Gonfiantini, Michaela V., Buonuomo, Paola S., Rana, Ippolita, Monti, Lidia, El Hachem, May, Bartuli, Andrea

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.10 MB

2020

38

Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant

Mastrogiorgio, Gerarda, Buonuomo, Paola Sabrina, Rana, Ippolita, Macchiaiolo, Marina, Marchetti, Paola, De Peppo, Francesco, Rinelli, Martina, Gonfiantini, Michaela Veronika, Novelli, Antonio, Bartuli

Journal:

Archives of Disease in Childhood

Year:

2020

File:

PDF, 300 KB

2020

39

Deciphering the Invdupdel(8p) GenotypeâPhenotype Correlation: Our Opinion

Lo Bianco, Manuela, Vecchio, Davide, Timpanaro, Tiziana A., Arena, Alessia, Macchiaiolo, Marina, Bartuli, Andrea, Sciuto, Laura, Presti, Santiago, Sciuto, Sarah, Sapuppo, Annamaria, Fiumara, Agata, Ma

Journal:

Year:

2020

File:

PDF, 4.79 MB

2020

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