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1

Systems-of-systems modeling using a comprehensive viewpoint-based SysML profile

Mori, Marco, Ceccarelli, Andrea, Lollini, Paolo, Frömel, Bernhard, Brancati, Francesco, Bondavalli, Andrea

Journal:

Journal of Software Evolution and Process

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

2

JAK-Inhibitors for the Treatment of Rheumatoid Arthritis: A Focus on the Present and an Outlook on the Future

Angelini, Jacopo, Talotta, Rossella, Roncato, Rossana, Fornasier, Giulia, Barbiero, Giorgia, Dal Cin, Lisa, Brancati, Serena, Scaglione, Francesco

Journal:

Year:

2020

File:

PDF, 1.63 MB

2020

3

KBG syndrome in a cohort of Italian patients

Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, Anna Sarkozy, Massimo Biondi, Davide De Brasi, Rita Mingarelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 211 KB

english, 2004

4

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisma

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

5

KBG syndrome

Francesco Brancati, Anna Sarkozy, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 1.01 MB

english, 2006

6

Joubert Syndrome and related disorders

Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 1.61 MB

english, 2010

7

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

Carboni, Nicola, Brancati, Francesco, Cocco, Eleonora, Solla, Elisabetta, D'Apice, Maria R., Mateddu, Anna, McIntyre, Adam, Fadda, Elisabetta, Mura, Marco, Lattanzi, Giovanna, Piras, Rachele, Maioli,

Journal:

Year:

2014

Language:

english

File:

PDF, 581 KB

english, 2014

8

Dual role of circulating endothelial progenitor cells in stent struts endothelialisation and neointimal regrowth: A substudy of the IN-PACT CORO trial

De Maria, Giovanni Luigi, Porto, Italo, Burzotta, Francesco, Brancati, Marta Francesca, Trani, Carlo, Pirozzolo, Giancarlo, Leone, Antonio Maria, Niccoli, Giampaolo, Prati, Francesco, Crea, Filippo

Journal:

Cardiovascular Revascularization Medicine

Year:

2015

Language:

english

File:

PDF, 1.21 MB

english, 2015

9

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives

Ghibellini, Giulia, Brancati, Francesco, Castori, Marco

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

10

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gil

Journal:

Year:

2015

Language:

english

File:

PDF, 3.57 MB

english, 2015

11

An OS-level Framework for Anomaly Detection in Complex Software Systems

Bovenzi, Antonio, Brancati, Francesco, Russo, Stefano, Bondavalli, Andrea

Journal:

IEEE Transactions on Dependable and Secure Computing

Year:

2015

Language:

english

File:

PDF, 635 KB

english, 2015

12

MATERIALI '95 || Federalismo

Raffaele Brancati, Carmine Donzelli, Salvatore Lupo, Carlo Trigilia and Francesco Benigno

Journal:

Year:

1995

Language:

italian

File:

PDF, 2.09 MB

italian, 1995

13

Glycoprotein IIB/IIIA inhibitor to reduce postpercutaneous coronary intervention myonecrosis and improve coronary flow in diabetics: the ‘OPTIMIZE-IT’ pilot randomized study

Talarico, Giovanni Paolo, Brancati, Marta, Burzotta, Francesco, Porto, Italo, Trani, Carlo, De Vita, Maria, Todaro, Daniel, Giammarinaro, Maura, Leone, Antonio Maria, Niccoli, Giampaolo, Andreotti, Fe

Journal:

Journal of Cardiovascular Medicine

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

14

Research interactions between academia and food companies: how to improve transparency and credibility of an inevitable liaison

Poli, Andrea, Marangoni, Franca, Agostoni, Carlo V., Brancati, Francesco, Capurso, Lucio, Colombo, Maria Laura, Ghiselli, Andrea, La Vecchia, Carlo, Molinari, Enrico, Morelli, Lorenzo, Porrini, Marisa

Journal:

European Journal of Nutrition

Year:

2018

Language:

english

File:

PDF, 741 KB

english, 2018

15

Firms' efficiency and global value chains: An empirical investigation on Italian industry

Agostino, Mariarosaria, Brancati, Emanuele, Giunta, Anna, Scalera, Domenico, Trivieri, Francesco

Journal:

The World Economy

Year:

2019

Language:

english

File:

PDF, 1.01 MB

english, 2019

16

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: a 10-year single center experience

Mannucci, Liliana, Luciano, Serena, Salehi, Leila B., Gigante, Laura, Conte, Chiara, Longo, Giuliana, Ferradini, Valentina, Piumelli, Nunzia, Brancati, Francesco, Ruvolo, Giovanni, Novelli, Giuseppe,

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 520 KB

english, 2019

17

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

Rossetti, Raffaella, Ferrari, Ilaria, Bestetti, Ilaria, Moleri, Silvia, Brancati, Francesco, Petrone, Luisa, Finelli, Palma, Persani, Luca

Journal:

Year:

2020

Language:

english

File:

PDF, 797 KB

english, 2020

18

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

Anna Sarkozy, Rita Mingarelli, Francesco Brancati, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 89 KB

english, 2002

19

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

Francesco Brancati, Marco Castori, Rita Mingarelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

20

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

Marco Castori, Francesco Brancati, Rosanna Rinaldi, Loredana Adami, Rita Mingarelli, Paola Grammatico, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 171 KB

english, 2006

21

A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B

Marco Castori, Francesco Brancati, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 160 KB

english, 2007

22

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

Francesco Brancati, Francesco Giuseppe Garaci, Rita Mingarelli, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 89 KB

english, 2008

23

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

William G. Newman, Jill Clayton-Smith, Kay Metcalfe, Rachel Cole, Marco Tartaglia, Francesco Brancati, Sara Morara, Antonio Novelli, Xiangdong Liu, Katherine A. Siminovitch, Stefan Mundlos, May Tassab

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

24

Expanding CEP290 mutational spectrum in ciliopathies

Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet

Journal:

American Journal of Medical Genetics Part A

Year:

2009

File:

PDF, 212 KB

2009

25

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

Uwe Kornak, Francesco Brancati, Martine Le Merrer, Klaske Lichtenbelt, Wolfgang Höhne, Sigrid Tinschert, Francesco Giuseppe Garaci, Bruno Dallapiccola, Peter Nürnberg

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 221 KB

english, 2010

26

Park6-linked parkinsonism occurs in several european families

Enza Maria Valente, Francesco Brancati, Alessandro Ferraris, Elizabeth A. Graham, Mary B. Davis, Monique M.B. Breteler, Thomas Gasser, Vincenzo Bonifati, Anna Rita Bentivoglio, Giuseppe De Michele, Al

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

27

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33–q34

Enza Maria Valente, Francesco Brancati, Viviana Caputo, Enrico Bertini, Clarice Patrono, Danilo Costanti, Bruno Dallapiccola

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 93 KB

english, 2002

28

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy, Marco Castori, Sarah E. Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S. Zaki, Alice Abdel-Aleem, Ghada M. H. Abdel-Sala

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 431 KB

english, 2006

29

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Nicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Baselga, Francesco Brancati, Robin C

Journal:

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

30

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lo

Journal:

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

31

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltsha

Journal:

Year:

2010

Language:

english

File:

PDF, 227 KB

english, 2010

32

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

Roberta Marongiu, Francesco Brancati, Angelo Antonini, Tamara Ialongo, Caterina Ceccarini, Oronzo Scarciolla, Anna Capalbo, Riccardo Benti, Gianni Pezzoli, Bruno Dallapiccola, Stefano Goldwurm, Enza M

Journal:

Year:

2007

Language:

english

File:

PDF, 234 KB

english, 2007

33

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Francesco Brancati, Giovanni Defazio, Viviana Caputo, Enza Maria Valente, Antonio Pizzuti, Paolo Livrea, Alfredo Berardelli, Bruno Dallapiccola

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

34

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

Giovanni Defazio, Francesco Brancati, Enza Maria Valente, Viviana Caputo, Antonio Pizzuti, Davide Martino, Giovanni Abbruzzese, Paolo Livrea, Alfredo Berardelli, Bruno Dallapiccola

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 66 KB

english, 2003

35

Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Enza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, Mark R. Placzek, Barbara Garavaglia, Sergio Salvi, Andrea Nemeth, Charles Shaw-Smith, Nardo Nardocci, Anna-Rita Bentivoglio, Alfredo Berardel

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 315 KB

english, 2003

36

A novel family with an unusual early-onset generalized dystonia

Giovanni Fabbrini, Francesco Brancati, Laura Vacca, Enza Maria Valente, Andrea Nemeth, Angela Meesaq, Nuala Sykes, Bruno Dallapiccola, Alfredo Berardelli

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

37

Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm

Jordi Clarimon, Francesco Brancati, Elizabeth Peckham, Enza Maria Valente, Bruno Dallapiccola, Giovanni Abruzzese, Paolo Girlanda, Giovanni Defazio, Alfredo Berardelli, Mark Hallett, Andrew B. Singlet

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 83 KB

english, 2007

38

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

Oronzo Scarciolla, Francesco Brancati, Enza Maria Valente, Alessandro Ferraris, Maria Vittoria De Angelis, Stefano Valbonesi, Barbara Garavaglia, Antonino Uncini, Giandomenico Palka, Liborio Stuppia,

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 254 KB

english, 2007

39

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

Giovanni Defazio, Mar Matarin, Elizabeth L. Peckham, Davide Martino, Enza M. Valente, Andrew Singleton, Anthony Crawley, Maria Stella Aniello, Francesco Brancati, Giovanni Abbruzzese, Paolo Girlanda,

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

40

Mutation screening of the DYT6/THAP1 gene in Italy

Monica Bonetti, Chiara Barzaghi, Francesco Brancati, Alessandro Ferraris, Emanuele Bellacchio, Alessandro Giovanetti, Tamara Ialongo, Giovanna Zorzi, Carla Piano, Martina Petracca, Alberto Albanese, N

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 369 KB

english, 2009

41

Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: A case report

Valerio Pisani, Paolo Stanzione, Alessandro Meschini, Simone Marziali, Francesco Giuseppe Garaci, Francesco Brancati, Alessandra Nicoletti, Mario Zappia, Antonio Pisani

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

42

An analytical model of dissipated viscous and hysteretic energy due to interaction forces in a pneumatic tire: Theory and experiments

Renato Brancati, Salvatore Strano, Francesco Timpone

Journal:

Mechanical Systems and Signal Processing

Year:

2011

Language:

english

File:

PDF, 632 KB

english, 2011

43

Hypochondrogenesis

Marco Castori, Francesco Brancati, Alessandro Castriota Scanderbeg, Bruno Dallapiccola

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 124 KB

english, 2006

44

Ostéoarthropathie hypertrophiante primitive : une nouvelle famille suggérant une hétérogénéité génétique

Ghita Harifi, Francesco Brancati, Bruno Dallapicola, Selma El Hassani

Journal:

Revue du Rhumatisme

Year:

2011

Language:

french

File:

PDF, 286 KB

french, 2011

45

Clinical and laboratory phenotype associated with the aspirin-like defect

Alfredo Dragani, Francesco Brancati, Silvia Pascale, Domenico Mattoscio, Bianca Rocca

Journal:

British Journal of Haematology

Year:

2010

Language:

english

File:

PDF, 66 KB

english, 2010

46

Reticulate Vascular Lesions and a Large Head

Marco Castori, Chiara Palka, Francesco Brancati, Rita Mingarelli, Bruno Dallapiccola

Journal:

Pediatric Dermatology

Year:

2007

Language:

english

File:

PDF, 461 KB

english, 2007

47

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Antonio Suppa, Alfredo Berardelli, Francesco Brancati, Massimo Marianetti, Giuseppe Barrano, Concetta Mina, Antonio Pizzuti, Giulio Sideri

Journal:

Year:

2009

Language:

english

File:

PDF, 119 KB

english, 2009

48

Clinical utility gene card for: Joubert syndrome

Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 159 KB

english, 2011

49

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 405 KB

english, 2008

50

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, Stephanie L, Silhavy, Jennifer L, Brancati, Francesco, Kisseleva, Marina V, Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A, Zaki, Maha S, Abdel-Aleem, Alice, Rosti, Rasim Ozgur

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 649 KB

english, 2009