Risultati ricerca pubblicazioni

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

pubblicato su: AMERICAN JOURNAL OF HUMAN GENETICS - 2019

Zhao Yingjie, Diacou Alexander, Johnston H Richard, Musfee Fadi I, McDonald-McGinn Donna M, Mcginn Daniel, Crowley T Blaine, Repetto Gabriela M, Swillen Ann, Breckpot Jeroen, Vermeesch Joris R, Kates Wendy R, Digilio M Cristina, Unolt Marta, Marino Bruno, Pontillo Maria, Armando Marco, DI FABIO Fabio, Vicari Stefano, van den Bree Marianne, Moss Hayley, Owen Michael J, Murphy Kieran C, Murphy Clodagh M, Murphy Declan, Schoch Kelly, Shashi Vandana, Tassone Flora, Simon Tony J, Shprintzen Robert J, Campbell Linda, Philip Nicole, Heine-Suñer Damian, García-Miñaúr Sixto, Fernández Luis, Bearden Carrie E, Vingerhoets Claudia, van Amelsvoort Therese, Eliez Stephan, Schneider Maude, Vorstman Jacob A S, Gothelf Doron, Zackai Elaine, Agopian A J, Gur Raquel E, Bassett Anne S, Emanuel Beverly S, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Morrow Bernice E

Familial aggregation of “apple peel” intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Digilio M. C., Magliozzi M., Di Pede A., Valfre L., Dentici M. L., Auriti C., Marino B., Novelli A., Dallapiccola B.

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

pubblicato su: ORPHANET JOURNAL OF RARE DISEASES - 2019

Calcagni G., Digilio M. C., Marino B., Tartaglia M.

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

pubblicato su: JOURNAL OF PEDIATRICS - 2019

Digilio M Cristina, Calcagni Giulio, De Luca Alessandro, Guida Valentina, Marino Bruno

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

pubblicato su: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE - 2018

Versacci Paolo, Pugnaloni Flaminia, Digilio Maria Cristina, Putotto Carolina, Unolt Marta, Calcagni Giulio, Baban Anwar, Marino Bruno

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2018

Unolt Marta, Versacci Paolo, Anaclerio Silvia, Lambiase Caterina, Calcagni Giulio, Trezzi Matteo, Carotti Adriano, Crowley Terrence Blaine, Zackai Elaine H., Goldmuntz Elizabeth, Gaynor James William, Digilio Maria Cristina, Mcdonald-Mcginn Donna M., Marino Bruno

Cardiovascular disease in Down syndrome

pubblicato su: CURRENT OPINION IN PEDIATRICS - 2018

Versacci Paolo, Di Carlo Duccio, Digilio Maria C, Marino Bruno

Clinical presentation and natural history of hypertrophic cardiomyopathy in RASopathies

pubblicato su: HEART FAILURE CLINICS - 2018

Calcagni Giulio, Adorisio Rachele, Martinelli Simone, Grutter Giorgia, Baban Anwar, Versacci Paolo, Digilio Maria Cristina, Drago Fabrizio, Gelb Bruce D., Tartaglia Marco, Marino Bruno

Late arrhytmias after repair of atrioventricular septal defect: Down's Syndrome is not the culprit

pubblicato su: INTERNATIONAL JOURNAL OF CARDIOLOGY - 2018

Di Carlo Duccio, Marino Bruno

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

pubblicato su: CLINICAL GENETICS - 2018

Niceta M., Margiotti K., Digilio M. C., Guida V., Bruselles A., Pizzi S., Ferraris A., Memo L., Laforgia N., Dentici M. L., Consoli F., Torrente I., Ruiz-Perez V. L., Dallapiccola B., Marino B., De Luca A., Tartaglia M.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2018

Unolt Marta, Barry Jessica, Digilio Maria Cristina, Marino Bruno, Bassett Anne, Oechslin Erwin, Low David W., Belasco Jean B., Kallish Staci, Sullivan Kathleen, Zackai Elaine H., McDonald-McGinn Donna M.

Long-term survival and phenotypic spectrum in heterotaxy syndrome: a 25-year follow-up experience

pubblicato su: INTERNATIONAL JOURNAL OF CARDIOLOGY - 2018

Baban Anwar, Cantarutti Nicoletta, Adorisio Rachele, Lombardi Roberta, Calcagni Giulio, Piano Mortari Eva, Dallapiccola Bruno, Marino Bruno, Iorio FIORE SALVATORE, Carsetti Rita, Digilio Maria Cristina, Giannico Salvatore, Drago Fabrizio, Carotti Adriano

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

pubblicato su: DATA IN BRIEF - 2018

Calcagni Giulio, Limongelli Giuseppe, D'Ambrosio Angelo, Gesualdo Francesco, Digilio Maria Cristina, Baban Anwar, Albanese Sonia B., Versacci Paolo, De Luca Enrica, Ferrero Giovanni B., Baldassarre Giuseppina, Agnoletti Gabriella, Banaudi Elena, Marek Jan, Kaski Juan P., Tuo Giulia, Russo Maria Giovanna, Pacileo Giuseppe, Milanesi Ornella, Messina Daniela, Marasini Maurizio, Cairello Francesca, Formigari Roberto, Brighenti Maurizio, Dallapiccola Bruno, Tartaglia Marco, Marino Bruno

Impact of genetic studies on comprehension and treatment of congenital heart disease

pubblicato su: PROGRESS IN PEDIATRIC CARDIOLOGY - 2018

Alicandro Tatiana, Putotto Carolina, Calcagni Giulio, Unolt Marta, Mastromoro Gioia, Digilio Maria Cristina, Versacci Paolo, Marino Bruno

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

pubblicato su: HUMAN MUTATION - 2018

Ferese R., Bonetti M., Consoli F., Guida V., Sarkozy A., Lepri F. R., Versacci P., Gambardella S., Calcagni G., Margiotti K., Piceci Sparascio F., Hozhabri H., Mazza T., Digilio M. C., Dallapiccola B., Tartaglia M., Hertog J. D., De Luca A., Marino Bruno

Surgery for Complex forms of Atrioventricular Septal Defect: Early Survival and Probability of Cure

pubblicato su: JOURNAL OF RARE DISORDERS. DIAGNOSIS & THERAPY - 2018

Di Carlo Duccio, PUTOTTO CAROLINA, VERSACCI PAOLO, MARINO TAUSSIG DE BODONIA Bruno

Partial atrioventricular septal defect in infancy: Don't we need to know more?

pubblicato su: HEART - 2018

Di Carlo D., Putotto C., Marino B.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

pubblicato su: INTERNATIONAL JOURNAL OF CARDIOLOGY - 2017

Calcagni Giulio, Limongelli Giuseppe, D'Ambrosio Angelo, Gesualdo Francesco, Digilio M. Cristina, Baban Anwar, Albanese Sonia B., Versacci Paolo, DE LUCA Enrica, Ferrero Giovanni B., Baldassarre Giuseppina, Agnoletti Gabriella, Banaudi Elena, Marek Jan, Kaski Juan P., Tuo Giulia, Russo M. Giovanna, Pacileo Giuseppe, Milanesi Ornella, Messina Daniela, Marasini Maurizio, Cairello Francesca, Formigari Roberto, Brighenti Maurizio, Dallapiccola Bruno, Tartaglia Marco, Marino Bruno

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

pubblicato su: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS - 2017

Calcagni Giulio, Unolt Marta, Digilio Maria Cristina, Baban Anwar, Versacci Paolo, Tartaglia Marco, Baldini Antonio, Marino Bruno

Congenital heart defects in molecularly proven Kabuki syndrome patients

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2017

Digilio Maria Cristina, Gnazzo Maria, Lepri Francesca, Dentici Maria Lisa, Pisaneschi Elisa, Baban Anwar, Passarelli Chiara, Capolino Rossella, Angioni Adriano, Novelli Antonio, Marino Bruno, Dallapiccola Bruno

Genome-wide association study to find modifiers for tetralogy of fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3

pubblicato su: CIRCULATION, CARDIOVASCULAR GENETICS - 2017

Guo Tingwei, Repetto Gabriela M., McDonald McGinn Donna M., Chung Jonathan H., Nomaru Hiroko, Campbell Christopher L., Blonska Anna, Bassett Anne S., Chow Eva W. C., Mlynarski Elisabeth E., Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E., Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E., Digilio M. Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E., Piotrowicz Ma?gorzata, Hawu?a Wanda, Roberts Amy E., Tassone Flora, Simon Tony J., Van Duin Esther D. A., Van Amelsvoort Thérèse A., Kates Wendy R., Zackai Elaine, Johnston H. Richard, Cutler David J., Agopian A. J., Goldmuntz Elizabeth, Mitchell Laura E., Wang Tao, Emanuel Beverly S., Morrow Bernice E.

Usefulness of Ospemifene in the treatment of urgency in menopausal patients affected by mixed urinary incontinence underwent mid-urethral slings surgery

pubblicato su: GYNECOLOGICAL ENDOCRINOLOGY - 2018

Schiavi Michele Carlo, D’Oria Ottavia, Aleksa Natalia, Vena Flaminia, Prata Giovanni, Di Tucci Chiara, Savone Delia, Sciuga Valentina, Giannini Andrea, Meggiorini Maria Letizia, Monti Marco, Zullo Marzio Angelo, Muzii Ludovico, Benedetti Panici Pierluigi

Radio-localization of non-palpable breast lesions under ultrasonographic guidance: current status and future perspectives

pubblicato su: CURRENT RADIOPHARMACEUTICALS - 2017

Follacchio Giulia Anna, Monteleone Francesco, Meggiorini Maria Letizia, Nusiner Maria Paola, DE FELICE Carlo, DE VINCENTIS Giuseppe, Liberatore Mauro

Axillary ectopic lobular carcinoma of breast. Two rare case reports

pubblicato su: EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES - 2017

Conversi A, Meggiorini M. L, Fino P, Soda G, Scuderi N, Onesti M. G.

Allestimento ed organizzazione di un laboratorio di riproduzione assistita

pubblicato su: Biologia e tecnologie della riproduzione umana - 2019

Micara Giulietta, Linari Antonella

Revealing the secret life of pre-implantation embryos by time-lapse monitoring: a review

pubblicato su: INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE - 2017

Faramarzi Azita, Khalili Mohammad Ali, Micara Giulietta, Agha-Rahimi Azam

LIGHT AND ELECTRON MICROSCOPY UNVEIL MORPHOLOGICAL CHANGES IN ART-DERIVED HUMAN OOCYTES CULTURED IN WEIGHTLESSNESS CONDITION

pubblicato su: Poster list ART World Congress - 2017

Miglietta Selenia, Nottola Stefania A., Familiari Giuseppe, Palmerini Maria Grazia, Macchiarelli Guido, Espinola Maria Salome B, Masiello Maria Grazia, Micara Giulietta, Linari Antonella, Bizzarri Mariano, Aragona Cesare

Age-related AMH decrease in ART patients

pubblicato su: The International Academy of Human Reproduction - 2017

Aragona Cesare, Riganelli Lucia, Franceschetti Silvia, Caccetta Jlenia, Mariani Marianna, Vasselli Ilaria, Micara Giulietta, Linari Antonella, Salome Bezerra Espinola

Which psychosocial variables affect drive the most? Analysis of sexual desire in a group of Italian men

pubblicato su: INTERNATIONAL JOURNAL OF IMPOTENCE RESEARCH - 2019

Nimbi Filippo Maria, Tripodi Francesca, Rossi Roberta, Michetti Paolo Maria, Simonelli Chiara

Eiaculazione ritardata e altri disturbi dell’orgasmo

pubblicato su: Sessuologia clinica. Diagnosi, trattamento e linee guida internazionali - 2019

Rossi R., Michetti P. M., NIMBI F. M.

La disfunzione erettile. In Simonelli C., Fabrizi A., Rossi R., Tripodi F (a cura di) Sessuologia clinica. Diagnosi, trattamento e linee guida internazionali,

pubblicato su: Sessuologia clinica. Diagnosi, trattamento e linee guida internazionali, - 2019

Fabrizi A., Michetti P. M., Silvaggi M.

Disturbi Urologici e disfunzioni sessuali. In Simonelli C., Fabrizi A., Rossi R., Tripodi F (a cura di) Sessuologia clinica. Diagnosi, trattamento e linee guida internazionali.

pubblicato su: Sessuologia clinica. Diagnosi, trattamento e linee guida internazionali, - 2019

Michetti Paolo Maria, Silvaggi Marco, Aversa Francesca

530 Towards a globally shared taxonomy of the different conditions diagnosed as unconsummated marriage

pubblicato su: JOURNAL OF SEXUAL MEDICINE - 2018

Silvaggi M., Michetti P. M., Fabrizi A., Rossi R., Tripodi F., Simonelli C.

Is “Unconsummated Marriage” still an appropriate term? A snapshot of reality

pubblicato su: PERCEPTIONS IN REPRODUCTIVE MEDICINE - 2017

Silvaggi M, Michetti Pm, Rossi R, Fabrizi A, Tripodi F, Simonelli C

Verso una tassonomia più efficace delle condizioni diagnosticate come matrimonio non consumato

pubblicato su: RIVISTA DI SESSUOLOGIA CLINICA - 2017

Silvaggi M., Michetti P. M., Fabrizi A., Rossi R., Tripodi F., Simonelli C

Verso una tassonomia più precisa delle diverse condizioni incluse nei termini “Matrimonio Bianco” o “Matrimonio non consumato"

pubblicato su: Atti del XXXIII congresso nazionale, Società Italiana di Andrologia. Milano Marittima 25-27 maggio 2017 - 2017

Silvaggi M., Michetti Pm., Fabrizi A., Rossi R., Tripodi F., Simonelli C.

Acute ataxia in paediatric emergency departments: a multicentre Italian study

pubblicato su: ARCHIVES OF DISEASE IN CHILDHOOD - 2019

Garone Giacomo, Reale Antonino, Vanacore Nicola, Parisi Pasquale, Bondone Claudia, Suppiej Agnese, Brisca Giacomo, Calistri Lucia, Cordelli Duccio Maria, Savasta Salvatore, Grosso Salvatore, Midulla Fabio, Falsaperla Raffaele, Verrotti Alberto, Bozzola Elena, Vassia Cristina, Da Dalt Liviana, Maggiore Rosario, Masi Stefano, Maltoni Lucia, Foiadelli Thomas, Rossetti Annalisa, Greco Carla Maria, Marino Silvia, Di Paolantonio Claudia, Papetti Laura, Urbino Antonio Francesco, Rossi Rossella, Raucci Umberto

The wheezy legacy of infant bronchiolitis

pubblicato su: THORAX - 2019

Midulla Fabio

The impact of viral bronchiolitis phenotyping: Is it time to consider phenotype-specific responses to individualize pharmacological management?

pubblicato su: PAEDIATRIC RESPIRATORY REVIEWS - 2019

Rodríguez-Martínez Carlos E, Castro-Rodriguez Jose A, Nino Gustavo, Midulla Fabio

Imaging diagnosis of pneumonia in children

pubblicato su: JOURNAL OF PEDIATRICS - 2019

de Benedictis Fernando Maria, Lanza Cecilia, Midulla Fabio

ERS Statement on Tracheomalacia and Bronchomalacia in Children

pubblicato su: EUROPEAN RESPIRATORY JOURNAL - 2019

Wallis C, Alexopoulou E, Antón-Pacheco J L, Bhatt J M, Bush A, Chang A B, Charatsi A-M, Coleman C, Depiazzi J, Douros K, Eber E, Everard M, Kantar A, Masters I B, Midulla F, Nenna R, Roebuck D, Snijders D, Priftis K

Summer schools of adult and paediatric respiratory medicine: course report

pubblicato su: BREATHE - 2018

Andreieva Iana O, Konstantynovska Olha, Midulla Fabio, Marangu Diana, Mchedlishvili Nino

A flow-leak correction algorithm for pneumotachographic work-of-breathing measurement during high-flow nasal cannula oxygen therapy

pubblicato su: MEDICAL ENGINEERING & PHYSICS - 2018

Montecchia Francesco, Midulla Fabio, Papoff Paola

Vaccination policies in Europe: common goals, diverse approaches and public doubts

pubblicato su: EUROPEAN JOURNAL OF IMMUNOLOGY - 2018

Petrarca Laura, Midulla Fabio, Openshaw Peter Jm

The Severe Paediatric Asthma Collaborative in Europe (SPACE) ERS clinical research collaboration: enhancing participation of children with asthma in therapeutic trials of new biologics and receptor blockers

pubblicato su: EUROPEAN RESPIRATORY JOURNAL - 2018

Grigg J, Rusconi F, Grigg J, Rusconi F, van Aalderen W, Rutjes Nwp, Carlsen Kcl, Coleman C, Chalmers Jd, Cunningham S, Fernandes Rm, Fleming Lj, Frankemölle B, Gappa M, Karadag B, Liu Nm, Midulla F, Pijnenburg MARIA WILHELMINA HELENA

Pertussis: new preventive strategies for an old disease

pubblicato su: PAEDIATRIC RESPIRATORY REVIEWS - 2018

Di Mattia Greta, Nicolai Ambra, Frassanito Antonella, Petrarca Laura, Nenna Raffaella, Midulla Fabio

Severe paediatric asthma collaborative in Europe (SPACE): protocol for a european registry

pubblicato su: BREATHE - 2018

Liu Norrice M., van Aalderen Wim, Carlsen Karin C. L., Coleman Courtney, Chalmers James D., Cunningham Steve, Fernandes Ricardo M., Fleming Louise J., Gappa Monika, Karadag Bülent, Midulla Fabio, Pijnenburg Marielle W. H., Rutjes Niels W., Rusconi Franca, Grigg Jonathan

Key paediatric messages from the 2017 European Respiratory Society International Congress

pubblicato su: ERJ OPEN RESEARCH - 2018

Grigg Jonathan, Barben Jürg, Everard Mark L, Hall Graham, Karadag Bülent, Moeller Alexander, Nenna Raffaella, Priftis Kostas N, Rottier Robbert J, Terheggen-Lagro Suzanne W J, Midulla Fabio

ERS/ECDC Statement: European Union standards for tuberculosis care, 2017 update

pubblicato su: EUROPEAN RESPIRATORY JOURNAL - 2018

Migliori Giovanni Battista, Sotgiu Giovanni, Rosales-Klintz Senia, Centis Rosella, D'Ambrosio Lia, Abubakar Ibrahim, Bothamley Graham, Caminero Jose Antonio, Cirillo Daniela Maria, Dara Masoud, de Vries Gerard, Aliberti Stefano, Dinh-Xuan Anh Tuan, Duarte Raquel, Midulla Fabio, Solovic Ivan, Subotic Dragan R, Amicosante Massimo, Correia Ana Maria, Cirule Andra, Gualano Gina, Kunst Heinke, Palmieri Fabrizio, Riekstina Vija, Tiberi Simon, Verduin Remi, van der Werf Marieke J

Exhaled markers of antioxidant activity and oxidative stress in stable cystic fibrosis patients with moderate lung disease

pubblicato su: JOURNAL OF BREATH RESEARCH - 2018

Spicuzza Lucia, Parisi Giuseppe Fabio, Tardino Lucia, Ciancio Nicola, Nenna Raffaella, Midulla Fabio, Leonardi Salvatore