Digilio, L. : rechercher sur Z-Library

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1

Meldonium improves Huntington’s disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression

Di Cristo, Francesca, Finicelli, Mauro, Digilio, Filomena Anna, Paladino, Simona, Valentino, Anna, Scialò, Filippo, D’Apolito, Maria, Saturnino, Carmela, Galderisi, Umberto, Giordano, Antonio, Melone,

Journal:

Journal of Cellular Physiology

Année:

2018

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2018

2

A failure mode and effect analysis (FMEA)-based approach for risk assessment of scientific processes in non-regulated research laboratories

Mascia, A., Cirafici, A. M., Bongiovanni, A., Colotti, G., Lacerra, G., Di Carlo, M., Digilio, F. A., Liguori, G. L., Lanati, A., Kisslinger, A.

Journal:

Accreditation and Quality Assurance

Année:

2020

Fichier:

PDF, 2.31 MB

2020

3

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

Giuseppe Limongelli, Silvia Russo, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D'Alessandro, Paolo Calabro, Maria Giovan

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 149 KB

english, 2010

4

A Cognitive-Developmental Model for Marital and Family Therapy Supervision

Rigazio-DiGilio, Sandra A, Anderson, Stephen A

Journal:

The Clinical Supervisor

Année:

1995

Langue:

english

Fichier:

PDF, 203 KB

english, 1995

5

Coping With Remembrances of Parental Rejection in Childhood: Gender Differences and Associations With Intimate Partner Relationships

Ki, Ppudah, Rohner, Ronald P., Britner, Preston A., Halgunseth, Linda C., Rigazio-DiGilio, Sandra A.

Journal:

Journal of Child and Family Studies

Année:

2018

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2018

6

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

Gerardo Piacentini, M. Cristina Digilio, Rossella Capolino, Andrea De Zorzi, Alessandra Toscano, Anna Sarkozy, Rita D'Agostino, Maurizio Marasini, M. Giovanna Russo, Bruno Dallapiccola, Bruno Marino

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 68 KB

english, 2005

7

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

M.Cristina Digilio, Rossella Capolino, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 99 KB

english, 2008

8

Pauline Boss, Loss, Trauma, and Resilience: Therapeutic Work with Ambiguous Loss

Sandra A. Rigazio-DiGilio, Jennifer A. Barnett

Journal:

Contemporary Family Therapy

Année:

2007

Langue:

english

Fichier:

PDF, 108 KB

english, 2007

9

Host recognition and acceptance behaviour in two aphid parasitoid species: Aphidius ervi and Aphidius microlophii (Hymenoptera: Braconidae)

Pennacchio, F., Digilio, M.C., Tremblay, E., Tranfaglia, A.

Journal:

Bulletin of Entomological Research

Année:

1994

Langue:

english

Fichier:

PDF, 714 KB

english, 1994

10

ENEA, a peach and apricot IgE-binding protein cross-reacting with the latex major allergen Hev b 5

Giangrieco, Ivana, Ricciardi, Teresa, Alessandri, Claudia, Farina, Lucia, Crescenzo, Roberta, Tuppo, Lisa, Ciancamerla, Michela, Rafaiani, Chiara, Bernardi, Maria Livia, Digilio, Anna Filomena, Cobucc

Journal:

Molecular Immunology

Année:

2019

Fichier:

PDF, 1.67 MB

2019

11

Tricuspid atresia and 22q11 deletion

Marino, Bruno, Digilio, Maria Cristina, Novelli, Giuseppe, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 80 KB

english, 1997

12

Noonan syndrome and aortic coarctation

Digilio, Maria Cristina, Marino, Bruno, Picchio, Fernando, Prandstraller, Daniela, Toscano, Alessandra, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 56 KB

english, 1998

13

Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

Digilio, Maria Cristina, Marino, Bruno, Toscano, Alessandra, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 89 KB

english, 1999

14

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins

Digilio, Maria Cristina, Marino, Bruno, Giannico, Salvatore, Giannotti, Aldo, Dallapiccola, Bruno

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 87 KB

english, 1999

15

Transposition of the great arteries in asplenia and polysplenia phenotypes

Bruno Marino, Rossella Capolino, M. Cristina Digilio, Roberto Di Donato

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 42 KB

english, 2002

16

Nonrandom association of atrioventricular canal and del (8p) syndrome

M.D. Bruno Marino, Antonino Reale, Aldo Giannotti, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 322 KB

english, 1992

17

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

Année:

2004

Langue:

english

Fichier:

PDF, 211 KB

english, 2004

18

Toward a Reconstructed View of Counselor Supervision

SANDRA A. RIGAZIO-DiGILIO

Journal:

Counselor Education and Supervision

Année:

1998

Langue:

english

Fichier:

PDF, 588 KB

english, 1998

19

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D’Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi, Adriano Angioni

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 3.06 MB

english, 2011

20

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

B. Marino, M. C. Digilio, M. G. Gagliardi, A. Giannotti, B. Dallapiccola

Journal:

Pediatric Cardiology

Année:

1996

Langue:

english

Fichier:

PDF, 71 KB

english, 1996

21

Atrioventricular Canal Defect and Postaxial Polydactyly Indicating Phenotypic Overlap of Ellis-van Creveld and Kaufman-McKusick Syndromes

Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Bruno Dallapiccola

Journal:

Pediatric Cardiology

Année:

1997

Langue:

english

Fichier:

PDF, 16 KB

english, 1997

22

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

L Bernardini, L Sinibaldi, A Capalbo, I Bottillo, B Mancuso, B Torres, A Novelli, MC Digilio, B Dallapiccola

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 248 KB

english, 2009

23

FAMILY THERAPY TRAINEES' EVALUATIONS OF THEIR BEST AND WORST SUPERVISION EXPERIENCES

Stephen A. Anderson, Margaret Schlossberg, Sandra Rigazio-DiGilio

Journal:

Journal of Marital and Family Therapy

Année:

2000

Langue:

english

Fichier:

PDF, 684 KB

english, 2000

24

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

Digilio, M. Cristina, Dallapiccola, Bruno, Marino, Bruno

Journal:

Pediatric Cardiology

Année:

2012

Langue:

english

Fichier:

PDF, 119 KB

english, 2012

25

Presencia de Aspergillus fumigatus en la cavidad nasofaríngea de equinos

Nora Guida, María Mesplet, Esteban Di Gennaro, Patricio Digilio, Eduardo Vicente Moras

Journal:

Revista Iberoamericana de Micología

Année:

2005

Fichier:

PDF, 220 KB

2005

26

Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy

M. Bertoli, G. Biasini, M. T. Calignano, G. Celani, G. De Grossi, M. C. Digilio, C. C. Fermariello, G. Loffredo, F. Luchino, A. Marchese, S. Mazotti, B. Menghi, C. Razzano, C. Tiano, A. Zambon Hobart,

Journal:

Journal of Intellectual Disability Research

Année:

2011

Langue:

english

Fichier:

PDF, 168 KB

english, 2011

27

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

C. Patrono, C. Dionisi-Vici, A. Giannotti, B. Bembi, M.C. Digilio, C. Rizzo, C. Purificato, C. Martini, R. Pierini, F.M. Santorelli

Journal:

Molecular and Cellular Probes

Année:

2002

Langue:

english

Fichier:

PDF, 120 KB

english, 2002

28

Leopard syndrome

Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2008

29

Acro-cardio-facial syndrome

Maria Cristina Digilio, Bruno Dallapiccola

Journal:

Orphanet Journal of Rare Diseases

Année:

2010

Langue:

english

Fichier:

PDF, 521 KB

english, 2010

30

Ubiad1 Is an Antioxidant Enzyme that Regulates eNOS Activity by CoQ10 Synthesis

Mugoni, Vera, Postel, Ruben, Catanzaro, Valeria, De Luca, Elisa, Turco, Emilia, Digilio, Giuseppe, Silengo, Lorenzo, Murphy, Michael P., Medana, Claudio, Stainier, Didier Y.R., Bakkers, Jeroen, Santor

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2013

31

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

D'Asdia, Maria Cecilia, Torrente, Isabella, Consoli, Federica, Ferese, Rosangela, Magliozzi, Monia, Bernardini, Laura, Guida, Valentina, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, De

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 166 KB

english, 2013

32

Asparagine in plums detected by CEST–MRI

Podda, Rachele, Delli Castelli, Daniela, Digilio, Giuseppe, Gullino, Maria Lodovica, Aime, Silvio

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 747 KB

english, 2015

33

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

Dentici, M. L., Di Pede, A., Lepri, F. R., Gnazzo, M., Lombardi, M. H., Auriti, C., Petrocchi, S., Pisaneschi, E., Bellacchio, E., Capolino, R., Braguglia, A., Angioni, A., Dotta, A., Digilio, M. C.,

Journal:

Archives of Disease in Childhood

Année:

2015

Langue:

english

Fichier:

PDF, 2.68 MB

english, 2015

34

Post-traumatic optic neuropathy: our surgical and medical protocol

Emanuelli, E., Bignami, M., Digilio, E., Fusetti, S., Volo, T., Castelnuovo, P.

Journal:

European Archives of Oto-Rhino-Laryngology

Année:

2015

Langue:

english

Fichier:

PDF, 757 KB

english, 2015

35

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefa

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1007 KB

english, 2014

36

Gadolinium-Decorated Silica Microspheres as Redox-Responsive MRI Probes for Applications in Cell Therapy Follow-Up

Muñoz Úbeda, Monica, Carniato, Fabio, Catanzaro, Valeria, Padovan, Sergio, Grange, Cristina, Porta, Stefano, Carrera, Carla, Tei, Lorenzo, Digilio, Giuseppe

Journal:

Chemistry - A European Journal

Année:

2016

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2016

37

Psychology’s contribution to the well-being of older americans.

Gatz, Margaret, Smyer, Michael A., DiGilio, Deborah A.

Journal:

American Psychologist

Année:

2016

Langue:

english

Fichier:

PDF, 346 KB

english, 2016

38

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with ocular involvement and autistic traits

Pascolini, Giulia, Agolini, Emanuele, Majore, Silvia, Novelli, Antonio, Grammatico, Paola, Digilio, Maria Cristina

Journal:

European Journal of Paediatric Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 1017 KB

english, 2018

39

Atrioventricular canal defect and genetic syndromes: The unifying role of Sonic Hedgehog

Digilio, M.C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M.L., Versacci, P., Dallapiccola, B., Tartaglia, M., Marino, B.

Journal:

Clinical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1006 KB

english, 2018

40

[Textes et Etudes du Moyen Âge] La letteratura di istruzione nel Medioevo germanico Volume 87 (Studi in onore di Fabrizio D. Raschellà) ||

Caparrini, Marialuisa, Digilio, Maria Rita, Ferrari, Fulvio

Année:

2018

Fichier:

PDF, 1.54 MB

2018

41

Cardiovascular disease in Down syndrome

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

Journal:

Current Opinion in Pediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 202 KB

english, 2018

42

De Novo Transcriptome Assembly of Cucurbita Pepo L. Leaf Tissue Infested by Aphis Gossypii

Vitiello, Alessia, Rao, Rosa, Corrado, Giandomenico, Chiaiese, Pasquale, Digilio, Maria, Cigliano, Riccardo, D’Agostino, Nunzio

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2018

43

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

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

Journal:

Progress in Pediatric Cardiology

Année:

2018

Langue:

english

Fichier:

PDF, 617 KB

english, 2018

44

Effective cryopreservation approach for andean potato shoot tip in vitro culture

Digilio, Ariana, Molina-García, Antonio D., Deladino, Lorena, Teixeira, Aline Schneider

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 55 KB

english, 2018

45

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

Digilio, M. Cristina, Magliozzi, Monia, Di Pede, Alessandra, Valfrè, Laura, Dentici, Maria Lisa, Auriti, Cinzia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 809 KB

english, 2019

46

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

Calcagni, Giulio, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 528 KB

english, 2019

47

Transcriptome and Metabolome Reprogramming in Tomato Plants by Trichoderma harzianum strain T22 Primes and Enhances Defense Responses Against Aphids

Coppola, Mariangela, Diretto, Gianfranco, Digilio, Maria Cristina, Woo, Sheridan Lois, Giuliano, Giovanni, Molisso, Donata, Pennacchio, Francesco, Lorito, Matteo, Rao, Rosa

Journal:

Frontiers in Physiology

Année:

2019

Langue:

english

Fichier:

PDF, 2.58 MB

english, 2019

48

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

Baban, Anwar, Olivini, Nicole, Lepri, Francesca Romana, Calì, Federica, Mucciolo, Mafalda, Digilio, Maria C., Calcagni, Giulio, di Mambro, Corrado, Dallapiccola, Bruno, Adorisio, Rachele, Novelli, Ant

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 1000 KB

english, 2019

49

Defining language disorders in children and adolescents with Noonan Syndrome

Lazzaro, Giulia, Caciolo, Cristina, Menghini, Deny, Cumbo, Francesca, Digilio, Maria C., Capolino, Rossella, Zampino, Giuseppe, Tartaglia, Marco, Vicari, Stefano, Alfieri, Paolo

Journal:

Molecular Genetics & Genomic Medicine

Année:

2020

Fichier:

PDF, 601 KB

2020

50

The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity

Di Cristo, Francesca, Calarco, Anna, Digilio, Filomena Anna, Sinicropi, Maria Stefania, Rosano, Camillo, Galderisi, Umberto, Melone, Mariarosa Anna Beatrice, Saturnino, Carmela, Peluso, Gianfranco

Journal:

International Journal of Molecular Sciences

Année:

2020

Fichier:

PDF, 4.90 MB

2020