Bigoni, Stefania: search on Z-Library

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1

Unbundling Efficient Breach: An Experiment

Bigoni, Maria, Bortolotti, Stefania, Parisi, Francesco, Porat, Ariel

Journal:

Journal of Empirical Legal Studies

Year:

2017

Language:

english

File:

PDF, 211 KB

english, 2017

2

It takes two to cheat: An experiment on derived trust

Bigoni, Maria, Bortolotti, Stefania, Casari, Marco, Gambetta, Diego

Journal:

European Economic Review

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

3

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing

Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna

Journal:

Year:

2019

Language:

english

File:

PDF, 726 KB

english, 2019

4

At the root of the North-South cooperation gap in Italy Preferences or beliefs?

Bigoni, Maria, Bortolotti, Stefania, Casari, Marco, Gambetta, Diego

Journal:

The Economic Journal

Year:

2018

Language:

english

File:

PDF, 503 KB

english, 2018

5

Accounting for Napoleonic imperialism in Tuscany and the Kingdom of Naples

Di Cimbrini, Tiziana, Funnell, Warwick, Bigoni, Michele, Migliori, Stefania, Consorti, Augusta

Journal:

Accounting Auditing & Accountability Journal

Year:

2019

File:

PDF, 594 KB

2019

6

Cooperation Hidden Frontiers: The Behavioral Foundations of the Italian North-South Divide

Bigoni, Maria, Bortolotti, Stefania, Casari, Marco, Gambetta, Diego, Pancotto, Francesca

Journal:

SSRN Electronic Journal

Year:

2013

Language:

english

File:

PDF, 5.56 MB

english, 2013

7

Amoral Familism, Social Capital, or Trust? The Behavioural Foundations of the Italian North-South Divide

Bigoni, Maria, Bortolotti, Stefania, Casari, Marco, Gambetta, Diego, Pancotto, Francesca

Journal:

The Economic Journal

Year:

2015

Language:

english

File:

PDF, 287 KB

english, 2015

8

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay

Parmeggiani, Giulia, Bigoni, Stefania, Buldrini, Barbara, Garani, Giampaolo, Clauser, Luigi, Galiè, Manilo, Ferlini, Alessandra, Fini, Sergio

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 356 KB

english, 2018

9

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna

Journal:

Year:

2020

Language:

english

File:

PDF, 171 KB

english, 2020

10

Report of a novel ATP7A mutation causing distal motor neuropathy

Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita, Neri, Marcella, Incensi, Alex, Liguori, Rocco, Storbeck, Markus,

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.22 MB

english, 2019

11

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

Severi, Giulia, Bernardini, Laura, Briuglia, Silvana, Bigoni, Stefania, Buldrini, Barbara, Magini, Pamela, Dentici, Maria L., Cordelli, Duccio M., Arrigo, Teresa, Franzoni, Emilio, Fini, Sergio, Italy

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 835 KB

english, 2016

12

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males

Fusco, Francesca, Conte, Matilde Immacolata, Diociauti, Andrea, Bigoni, Stefania, Branda, Maria Francesca, Ferlini, Alessandra, El Hachem, Maya, Ursini, Matilde Valeria

Journal:

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

13

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

Marcella Vacca, Francesco Filippini, Alberta Budillon, Valeria Rossi, Grazia Mercadante, Elisa Manzati, Francesca Gualandi, Stefania Bigoni, Cecilia Trabanelli, Giorgio Pini, Elisa Calzolari, Alessand

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 214 KB

english, 2001

14

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study

Halbach, Nicky, Smeets, Eric E., Julu, Peter, Witt-Engerström, Ingegerd, Pini, Giorgio, Bigoni, Stefania, Hansen, Stig, Apartopoulos, Flora, Delamont, Robert, van Roozendaal, Kees, Scusa, Maria F., Bo

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 124 KB

english, 2016

15

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, De Vita, Dalila, Bigoni, Stefania, B

Journal:

Year:

2016

Language:

english

File:

PDF, 785 KB

english, 2016

16

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region

Marcella Vacca, Francesco Filippini, Alberta Budillon, Valeria Rossi, Floriana Della Ragione, Maria Luigia De Bonis, Grazia Mercadante, Elisa Manzati, Francesca Gualandi, Stefania Bigoni, Cecilia Trab

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 192 KB

english, 2001

17

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

Michele Falco, Carmela Scuderi, Sebastiano Musumeci, Maurizio Sturnio, Marcella Neri, Stefania Bigoni, Luisa Caniatti, Marco Fichera

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

18

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, Bigoni, Stefania, Sensi, Alberto, Baroncini, Anna, Capucci, Antonella, De Agostini, Cristina, Gwilliam, Rhian, Deloukas, Panos

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

19

Genetic counseling for women referred for advanced maternal age: a telegenetic approach

Gualandi, Francesca, Bigoni, Stefania, Melchiorri, Loredana, Buldrini, Barbara, Balboni, Alessandra, Neri, Marcella, Armaroli, Annarita, Parmeggiani, Giulia, Italyankina, Eleonora, Mauro, Antonio, Rav

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 334 KB

english, 2014

20

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

Pini, Giorgio, Bigoni, Stefania, Engerström, Ingegerd, Calabrese, Olga, Felloni, Beatrice, Scusa, Maria, Di Marco, Pietro, Borelli, Paolo, Bonuccelli, Ubaldo, Julu, Peter, Nielsen, Jytte, Morin, Bodil

Journal:

Neuropediatrics

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

21

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella

Journal:

Year:

2020

File:

PDF, 496 KB

2020

22

Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]

Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Ragione, Floriana Della, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Tr

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

23

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

Pini, Giorgio, Bigoni, Stefania, Engerström, Ingegerd, Calabrese, Olga, Felloni, Beatrice, Scusa, Maria, Di Marco, Pietro, Borelli, Paolo, Bonuccelli, Ubaldo, Julu, Peter, Nielsen, Jytte, Morin, Bodil

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 98 KB

english, 2012

24

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi,

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 973 KB

english, 2017

25

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Wenger, Tara L., Harr, Margaret, Ricciardi, Stefania, Bhoj, Elizabeth, Santani, Avni, Adam, Margaret P., Barnett, Sarah S., Ganetzky, Rebecca, McDonald-McGinn, Donna M., Battaglia, Domenica, Bigoni, S

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 523 KB

english, 2014

26

Further Studies on Nociceptin-Related Peptides: Discovery of a New Chemical Template with Antagonist Activity on the Nociceptin Receptor

Guerrini, Remo, Calo', Girolamo, Bigoni, Raffaella, Rizzi, Anna, Varani, Katia, Toth, Geza, Gessi, Stefania, Hashiba, Eiji, Hashimoto, Yoshio, Lambert, David G.

Journal:

Journal of Medicinal Chemistry

Year:

2000

Language:

english

File:

PDF, 182 KB

english, 2000

27

Thyroid Function in Rett Syndrome

Stagi, Stefano, Cavalli, Loredana, Congiu, Laura, Scusa, Maria Flora, Ferlini, Alessandra, Bigoni, Stefania, Benincasa, Alberto, Rossi, Bruno, Pini, Giorgio

Journal:

Hormone Research in Paediatrics

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

28

“CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A . 164:2557-2566, 2014

Wenger, Tara L., Harr, Margaret, Ricciardi, Stefania, Bhoj, Elizabeth, Santani, Avni, Adam, Margaret P., Barnett, Sarah S., Ganetzky, Rebecca, McDonald-McGinn, Donna M., Battaglia, Domenica, Bigoni, S

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 118 KB

english, 2015

29

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 526 KB

english, 2017

30

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Parmeggiani, Giulia, Buldrini, Barbara, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

31

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Bigoni, Stefania, Neri, Marcella, Scotton, Chiara, Farina, Roberto, Sabatelli, Patrizia, Jiang, Chongyi, Zhang, Jianguo, Falzarano, Maria Sofia, Rossi, Rachele, Ognibene, Davide, Selvatici, Rita, Gual

Journal:

Frontiers in Genetics

Year:

2019

Language:

english

File:

PDF, 3.17 MB

english, 2019

32

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1)

Pini, Giorgio, Congiu, Laura, Benincasa, Alberto, DiMarco, Pietro, Bigoni, Stefania, Dyer, Adam H., Mortimer, Niall, Della-Chiesa, Andrea, O’Leary, Sean, McNamara, Rachel, Mitchell, Kevin J., Gill, Mi

Journal:

Autism Research and Treatment

Year:

2016

Language:

english

File:

PDF, 1.65 MB

english, 2016

33

Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

Keogh, Conor, Pini, Giorgio, Dyer, Adam H., Bigoni, Stefania, DiMarco, Pietro, Gemo, Ilaria, Reilly, Richard, Tropea, Daniela

Journal:

Year:

2018

Language:

english

File:

PDF, 4.04 MB

english, 2018

34

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

Fonderico, Mattia, Laudisi, Michele, Andreasi, Nico Golfrè, Bigoni, Stefania, Lamperti, Costanza, Panteghini, Celeste, Garavaglia, Barbara, Carecchio, Miryam, Emanuele, Elia Antonio, Forni, Gian L., G

Journal:

Frontiers in Neurology

Year:

2017

Language:

english

File:

PDF, 325 KB

english, 2017

35

A Family with γ-Thalassemia and High Hb A 2 Levels

Parmeggiani, Giulia, Gualandi, Francesca, Selvatici, Rita, Rimessi, Paola, Bigoni, Stefania, Taddei Masieri, Marina, Dolcini, Bernadetta, Venturoli, Anna, Cappabianca, Maria P., Ferlini, Alessandra, R

Journal:

Year:

2016

Language:

english

File:

PDF, 664 KB

english, 2016

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