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1

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

Monica Marini, Roberto Cusano, Pierangela De Biasio, Francesco Caroli, Margherita Lerone, Margherita Silengo, Roberto Ravazzolo, Marco Seri, Gianni Camera

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

2

Poland syndrome with bilateral features: Case description with review of the literature

Anwar Baban, Michele Torre, Sebastiano Bianca, Anna Buluggiu, Mario Igor Rossello, Maria Grazia Calevo, Maura Valle, Roberto Ravazzolo, Vincenzo Jasonni, Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 194 KB

english, 2009

3

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ilham Ratbi, Renata Borcciadi, Asmaa Regragui, Roberto Ravazzolo, Abdelaziz Sefiani

Journal:

Clinical Rheumatology

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

4

GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis

Alessandra Donadini, Francesca Giacopelli, Roberto Ravazzolo, Valentina Gandin, Pier Carlo Marchisio, Stefano Biffo

Journal:

Year:

2006

Language:

english

File:

PDF, 296 KB

english, 2006

5

Interconnections Between Eurozone and us Booms and Busts Using a Bayesian Panel Markov-Switching VAR Model

Billio, Monica, Casarin, Roberto, Ravazzolo, Francesco, Van Dijk, Herman K.

Journal:

Journal of Applied Econometrics

Year:

2016

Language:

english

File:

PDF, 730 KB

english, 2016

6

Bayesian Nonparametric Calibration and Combination of Predictive Distributions

Bassetti, Federico, Casarin, Roberto, Ravazzolo, Francesco

Journal:

Journal of the American Statistical Association

Year:

2017

Language:

english

File:

PDF, 741 KB

english, 2017

7

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ratbi, Ilham, Bocciardi, Renata, Regragui, Asmaa, Ravazzolo, Roberto, Sefiani, Abdelaziz

Journal:

Clinical Rheumatology

Year:

2017

Language:

english

File:

PDF, 272 KB

english, 2017

8

Bayesian Nonparametric Calibration and Combination of Predictive Distributions

Bassetti, Federico, Casarin, Roberto, Ravazzolo, Francesco

Journal:

SSRN Electronic Journal

Year:

2015

Language:

english

File:

PDF, 1.68 MB

english, 2015

9

Combination Schemes for Turning Point Predictions

Billio, Monica, Casarin, Roberto, Ravazzolo, Francesco, van Dijk, H. K.

Journal:

SSRN Electronic Journal

Year:

2011

Language:

english

File:

PDF, 230 KB

english, 2011

10

Fontaine-farriaux craniosynostosis: Second report in the literature

Manuela Priolo, Teresina De Toni, Maria Baffico, Armando Cama, Marco Seri, Roberto Cusano, Laura Costabello, Paola Fondelli, Valeria Capra, Margherita Silengo, Roberto Ravazzolo, Dr. Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 198 KB

english, 2001

11

Adenovirus E1A down-regulates the EGF receptor via repression of its promoter

Michela Prudenziati, Mario Sirito, Hans van Dam, Roberto Ravazzolo

Journal:

International Journal of Cancer

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

12

An intronic nucleotide variant of the RET proto-oncogene causes Hirschsprung disease by interfering with RNA splicing

Paola Griseri, Michele Mishto, Manuela Priolo, Barbara Pesce, Ben C. J. Hamel, Giovanni Romeo, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Gene Function & Disease

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

13

Cell-line specific transcription rates of the RET gene and functional domains in its minimal promoter

Giovanna Patrone, Francesca Puppo, Monica Scaranari, Roberto Cusano, Paola Griseri, Giovanni Romeo, Isabella Ceccherini, Aldamaria Puliti, Roberto Ravazzolo

Journal:

Gene Function & Disease

Year:

2000

Language:

english

File:

PDF, 1.35 MB

english, 2000

14

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy

Cristiana Lo Nigro, Roberto Cusano, Gian Luigi Gigli, Paola Forabosco, Mariarosaria Valente, Roberto Ravazzolo, Marina Diomedi, Marco Seri

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 93 KB

english, 2003

15

Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism

Maria Teresa Divizia, Anwar Baban, Alice Pessagno, Silvio Boero, Roberto Ravazzolo, Margherita Cirillo Silengo, Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

16

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

Anwar Baban, Luca Moresco, Maria Teresa Divizia, Andrea Rossi, Roberto Ravazzolo, Margherita Lerone, Teresa De Toni

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 272 KB

english, 2008

17

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation

Stefania Gimelli, Maria Teresa Divizia, Margherita Lerone, Lara Bricco, Frédérique Béna, Stylianos E. Antonarakis, Roberto Ravazzolo, Giorgio Gimelli

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 168 KB

english, 2010

18

A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

Paola Griseri, Tiziana Bachetti, Francesca Puppo, Francesca Lantieri, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini

Journal:

Year:

2005

Language:

english

File:

PDF, 246 KB

english, 2005

19

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Renata Bocciardi, Roberto Giorda, Valeria Marigo, Paola Zordan, Donatella Montanaro, Stefania Gimelli, Marco Seri, Margherita Lerone, Roberto Ravazzolo, Giorgio Gimelli

Journal:

Year:

2005

Language:

english

File:

PDF, 529 KB

english, 2005

20

A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease

Paola Griseri, Francesca Lantieri, Francesca Puppo, Tiziana Bachetti, Marco Di Duca, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Year:

2007

Language:

english

File:

PDF, 381 KB

english, 2007

21

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

Sara Parodi, Tiziana Bachetti, Francesca Lantieri, Marco Di Duca, Giuseppe Santamaria, Giancarlo Ottonello, Ivana Matera, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Year:

2008

Language:

english

File:

PDF, 191 KB

english, 2008

22

Lactoferrin binding sites and nuclear localization in K562(S) cells

Cecilia Garré, Giovanna Bianchi-Scarrà, Mario Sirito, Marco Musso, Roberto Ravazzolo

Journal:

Journal of Cellular Physiology

Year:

1992

Language:

english

File:

PDF, 604 KB

english, 1992

23

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene

Manuela Priolo, Margherita Lerone, Maria Baffico, Maurizia Baldi, Roberto Ravazzolo, Armando Cama, Valeria Capra, Margherita Silengo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

24

A DNA element in the α1 type III collagen promoter mediates a stimulatory response by angiotensin II

Ghiggeri, Gian Marco, Oleggini, Roberta, Musante, Luca, Caridi, Gianluca, Gusmano, Rosanna, Ravazzolo, Roberto

Journal:

Kidney International

Year:

2000

Language:

english

File:

PDF, 668 KB

english, 2000

25

Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension

Pontremoli, Roberto, Ravera, Maura, Viazzi, Francesca, Nicolella, Clizia, Berruti, Valeria, Leoncini, Giovanna, Giacopelli, Francesca, Bezante, Gian Paolo, Sacchi, Giorgio, Ravazzolo, Roberto, Deferra

Journal:

Kidney International

Year:

2000

Language:

english

File:

PDF, 224 KB

english, 2000

26

Low amounts ofPHOX2Bexpanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

Tiziana Bachetti, Sara Parodi, Marco Di Duca, Giuseppe Santamaria, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Journal of Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

27

Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, Leena Alhonen, Suvikki Suppola, Roberto Cusano, Cristiana Lo Nigro, Rosanna Gatti, Roberto Ravazzolo, Marco Seri

Journal:

Year:

2002

Language:

english

File:

PDF, 156 KB

english, 2002

28

Teaching molecular genetics: chapter 4—positional cloning of genetic disorders

Aldamaria Puliti, Gianluca Caridi, Roberto Ravazzolo, Gian Marco Ghiggeri

Journal:

Pediatric Nephrology

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

29

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Bocciardi, Renata, Bordo, Domenico, Di Duca, Marco, Di Rocco, Maja, Ravazzolo, Roberto

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 280 KB

english, 2008

30

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

Griseri, Paola, Sancandi, Monica, Patrone, Giovanna, Bocciardi, Renata, Hofstra, Robert, Ravazzolo, Roberto, Devoto, Marcella, Romeo, Giovanni, Ceccherini, Isabella

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 158 KB

english, 2000

31

From developmental biology to dysmorphology

Ravazzolo, Roberto, Cossu, Giulio, Hennekam, Raoul CM

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 19 KB

english, 2000

32

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail–Patella syndrome

Marini, Monica, Giacopelli, Francesca, Seri, Marco, Ravazzolo, Roberto

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

33

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

Bachetti, Tiziana, Caroli, Francesco, Bocca, Paola, Prigione, Ignazia, Balbi, Pietro, Biancheri, Roberta, Filocamo, Mirella, Mariotti, Caterina, Pareyson, Davide, Ravazzolo, Roberto

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 333 KB

english, 2008

34

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

Giuliana Simonazzi, Sara Miccoli, Nunzio Salfi, Maria Paola Bonasoni, Renata Bocciardi, Roberto Ravazzolo, Marco Seri, Alessandra Curti, Gianluigi Pilu, Nicola Rizzo, Daniela Turchetti

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 91 KB

english, 2012

35

Electrophoretic pattern of NADPH-dependent oxidoreductive activities in K 562 and HL 60 leukemic cell lines

Roberto Ravazzolo, Renata Barresi, Cecilia Garré, Giovanna Bianchi-Scarrá, Franco Ajmar

Journal:

Cell Differentiation

Year:

1988

Language:

english

File:

PDF, 324 KB

english, 1988

36

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia

Gabriella Cirmena, Stefania Aliano, Giuseppina Fugazza, Roberto Bruzzone, Anna Garuti, Renata Bocciardi, Andrea Bacigalupo, Roberto Ravazzolo, Alberto Ballestrero, Mario Sessarego

Journal:

Cancer Genetics and Cytogenetics

Year:

2008

Language:

english

File:

PDF, 383 KB

english, 2008

37

Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients

Renato Marciano, Giuseppe D'Annunzio, Nicola Minuto, Lorenzo Pasquali, Andrea Santamaria, Marco Di Duca, Roberto Ravazzolo, Renata Lorini

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 579 KB

english, 2009

38

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

Eleonora Di Zanni, Tiziana Bachetti, Sara Parodi, Paola Bocca, Ignazia Prigione, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Neurobiology of Disease

Year:

2012

Language:

english

File:

PDF, 1.43 MB

english, 2012

39

Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease

Tiziana Bachetti, Eleonora Di Zanni, Pietro Balbi, Roberto Ravazzolo, GianPietro Sechi, Isabella Ceccherini

Journal:

Experimental Cell Research

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

40

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

Gianluca Caridi, Afig Berdeli, Monica Dagnino, Marco Di Duca, Sevgi Mir, Alphan Cura, Roberto Ravazzolo, Gian Marco Ghiggeri

Journal:

American Journal of Kidney Diseases

Year:

2004

Language:

english

File:

PDF, 321 KB

english, 2004

41

Synthesis of a 60 kD nuclear DNA binding protein induced by cytosine arabinoside in the HL 60 leukemic cell line

Roberto Ravazzolo, Giovanna Bianchi-Scarrǎ, Valeria Capra, Paola Fiorentini, Cecilia Garrě

Journal:

European Journal of Haematology

Year:

1990

Language:

english

File:

PDF, 805 KB

english, 1990

42

An Upstream Positive Regulatory Element in Human GM-CSF Promoter Is Recognized by NF-κB/Rel Family Members

Marco Musso, Paola Ghiorzo, Paola Fiorentini, Roberto Giuffrida, Paola Ciotti, Cecilia Garré, Roberto Ravazzolo, Giovanna Bianchi-Scarrà

Journal:

Biochemical and Biophysical Research Communications

Year:

1996

Language:

english

File:

PDF, 803 KB

english, 1996

43

A Novel Human Homologue of the SH3BGR Gene Encodes a Small Protein Similar to Glutaredoxin 1 of Escherichia coli

Michela Mazzocco, Patrizio Arrigo, Aliana Egeo, Massimo Maffei, Alessandro Vergano, Raffaella Di Lisi, Fabio Ghiotto, Ermanno Ciccone, Roberta Cinti, Roberto Ravazzolo, Paolo Scartezzini

Journal:

Biochemical and Biophysical Research Communications

Year:

2001

Language:

english

File:

PDF, 621 KB

english, 2001

44

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

Roberto Ravazzolo, Cecilia Garré, Giovanna Bianchi-Scarrá, Renata Barresi, Guido Damiani, Valeria Capra, Franco Ajmar

Journal:

Archives of Biochemistry and Biophysics

Year:

1988

Language:

english

File:

PDF, 886 KB

english, 1988

45

A minimal isoform of the TMEM16A protein associated with chloride channel activity

Loretta Ferrera, Paolo Scudieri, Elvira Sondo, Antonella Caputo, Emanuela Caci, Olga Zegarra-Moran, Roberto Ravazzolo, Luis J.V. Galietta

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2011

Language:

english

File:

PDF, 1.90 MB

english, 2011

46

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions

Tiziana Bachetti, Paola Bocca, Silvia Borghini, Ivana Matera, Ignazia Prigione, Roberto Ravazzolo, Isabella Ceccherini

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2007

Language:

english

File:

PDF, 769 KB

english, 2007

47

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity

Mara Giordano, Michela Godi, Francesca Giacopelli, Monica Lessi, Simona Mellone, Roberta Paracchini, Antonella Petri, Jaele Bellone, Roberto Ravazzolo, Gianni Bona, Patricia Momigliano-Richiardi

Journal:

Molecular and Cellular Endocrinology

Year:

2006

Language:

english

File:

PDF, 234 KB

english, 2006

48

Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

Veronica Musante, Elisa Neri, Marco Feligioni, Aldamaria Puliti, Marco Pedrazzi, Valerio Conti, Cesare Usai, Alberto Diaspro, Roberto Ravazzolo, Jeremy M. Henley, Giuseppe Battaglia, Anna Pittaluga

Journal:

Neuropharmacology

Year:

2008

Language:

english

File:

PDF, 772 KB

english, 2008

49

Cell-line specific chromatin acetylation at the Sox10–Pax3 enhancer site modulates the RET proto-oncogene expression

Francesca Puppo, Paola Griseri, Mirco Fanelli, Francesca Schena, Giovanni Romeo, PierGiuseppe Pelicci, Isabella Ceccherini, Roberto Ravazzolo, Giovanna Patrone

Journal:

Year:

2002

Language:

english

File:

PDF, 188 KB

english, 2002

50

Erratum to: Cell-line specific chromatin acetylation at the Sox10–Pax3 enhancer site modulates the RET proto-oncogene expression (FEBS 26252): [FEBS Letters 523 (2002) 123–127]

Francesca Puppo, Paola Griseri, Mirco Fanelli, Francesca Schena, Giovanni Romeo, PierGiuseppe Pelicci, Isabella Ceccherini, Roberto Ravazzolo, Giovanna Patrone

Journal:

Year:

2002

Language:

english

File:

PDF, 32 KB

english, 2002