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1

Targeted Next Generation Sequencing in patients with Myotonia Congenita

Ferradini, Valentina, Cassone, Marco, Nuovo, Sara, Bagni, Ilaria, D'Apice, Maria Rosaria, Botta, Annalisa, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Clinica Chimica Acta

Year:

2017

Language:

english

File:

PDF, 690 KB

english, 2017

2

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

Fiorillo, Chiara, D'Apice, Maria Rosaria, Trucco, Federica, Murdocca, Michela, Spitalieri, Paola, Assereto, Stefania, Baratto, Serena, Morcaldi, Guido, Minetti, Carlo, Sangiuolo, Federica, Novelli, Gi

Journal:

DNA and Cell Biology

Year:

2018

Language:

english

File:

PDF, 787 KB

english, 2018

3

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

Daneshjoo, Omid, Salehi, Leila B., Pizzuti, Antonio, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Clinical Case Reports

Year:

2020

File:

PDF, 512 KB

2020

4

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen K.V. Reichardt, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 364 KB

english, 1996

5

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

Francesca Amati, Ivano Condò, Emanuela Conti, Federica Sangiuolo, Bruno Dallapiccola, Roberto Testi, Giuseppe Novelli

Journal:

Cell Biochemistry and Function

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

6

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene

Federica Sangiuolo, Stefania Lo Cicero, Patrizia Maceratesi, Serena Quattrucci, Giuseppe Novelli, B. Dallapiccola

Journal:

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

7

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population

Maria Pia Russo, Giovanni Romeo, Marcella Devoto, Guido Barbujani, Giulio Cabrini, Annamaria Giunta, Elena D'Alcamo, Gianbattista Leoni, Federica Sangiuolo, Carmelina Magnani, Laura Cremonesi, Maurizi

Journal:

Year:

1995

Language:

english

File:

PDF, 387 KB

english, 1995

8

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

Federica Sangiuolo, Mauro Magnani, Dwight Stambolian, Giuseppe Novelli

Journal:

Year:

2004

Language:

english

File:

PDF, 1.14 MB

english, 2004

9

Novel mutations ofTCOF1gene in European patients with treacher Collins syndrome

Chiara Conte, Maria Rosaria D’Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 331 KB

english, 2011

10

In vitrocorrection of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

Federica Sangiuolo, Emanuela Bruscia, Annalucia Serafino, Anna Maria Nardone, Emanuela Bonifazi, Monica Lais, Dieter C Gruenert, Giuseppe Novelli

Journal:

BMC Medical Genetics

Year:

2002

Language:

english

File:

PDF, 3.22 MB

english, 2002

11

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo, Giuseppe Novelli

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 688 KB

english, 2004

12

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

Federica Sangiuolo, Antonio Filareto, Emiliano Giardina, Anna Maria Nardone, Gianluigi Pilu, Adalgisa Pietropolli, Enrico Bertini, Giuseppe Novelli

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 148 KB

english, 2004

13

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

Giuseppe Novelli, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Federica Sangiuolo, Bruno Dallapiccola

Journal:

Year:

1990

Language:

english

File:

PDF, 214 KB

english, 1990

14

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

Mangino, Massimo, Flex, Elisabetta, Capon, Francesca, Sangiuolo, Federica, Carraro, Edoardo, Gualandi, Francesca, Mazzoli, Manuela, Martini, Alessandro, Novelli, Giuseppe, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 111 KB

english, 2001

15

Recombinant CTFR detection in CF tracheal epithelial cells following in vitro liposomeme-mediated gene transfer

Alessia Colosimo, Stefania Scarpino, Federica Sangiuolo, Sabrina Di Sario, Giuseppe Mossa, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Year:

1997

Language:

english

File:

PDF, 380 KB

english, 1997

16

Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene

Anna Lucia Serafino, Giuseppe Novelli, Sabrina Di Sario, Alessia Colosimo, Paola Amicucci, Federica Sangiuolo, Giuseppe Mossa, Bruno Dallapiccola

Journal:

Year:

1999

Language:

english

File:

PDF, 513 KB

english, 1999

17

Structure and expression of the human ubiquitin fusion–degradation gene (UFD1L)

Giuseppe Novelli, Aldo Mari, Francesca Amati, Alessia Colosimo, Federica Sangiuolo, Mario Bengala, Emanuela Conti, Antonia Ratti, Roberta Bordoni, Antonio Pizzuti, Antonio Baldini, Rita Crinelli, Fran

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1998

Language:

english

File:

PDF, 105 KB

english, 1998

18

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

Gianmarco Contino, Francesca Amati, Sabina Pucci, Eugenio Pontieri, Flavia Pichiorri, Antonio Novelli, Annalisa Botta, Ruggiero Mango, Anna Maria Nardone, Federica Carla Sangiuolo, Gennaro Citro, Luig

Journal:

Year:

2004

Language:

english

File:

PDF, 342 KB

english, 2004

19

Novel CLCN1 Mutation in Carbamazepine-Responsive Myotonia Congenita

Michael J. Lyons, Reyna Duron, Isaac Molinero, Federica Sangiuolo, Kenton R. Holden

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 174 KB

english, 2010

20

Gene transfection efficiency of tracheal epithelial cells by DC-Chol–DOPE/DNA complexes

Alessia Colosimo, Annalucia Serafino, Federica Sangiuolo, Sabrina Di Sario, Emanuela Bruscia, Paola Amicucci, Giuseppe Novelli, Bruno Dallapiccola, Giuseppe Mossa

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1999

Language:

english

File:

PDF, 665 KB

english, 1999

21

TCF7L2gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

Ciccacci, Cinzia, Fusco, Davide, Cacciotti, Laura, Morganti, Roberto, D’Amato, Cinzia, Novelli, Giuseppe, Sangiuolo, Federica, Spallone, Vincenza, Borgiani, Paola

Journal:

Acta Diabetologica

Year:

2013

Language:

english

File:

PDF, 234 KB

english, 2013

22

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, Anne Helbling-Leclerc, Maria Rosaria D’Apice, Catherine Massart, Francesca Capon, Paolo Sbraccia, Massimo Federici, Renato Lauro, Cosimo Tudisco,

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.38 MB

english, 2002

23

MicroRNA genetic variations: association with type 2 diabetes

Ciccacci, Cinzia, Fusco, Davide, Cacciotti, Laura, Morganti, Roberto, DâAmato, Cinzia, Greco, Carla, Rufini, Sara, Novelli, Giuseppe, Sangiuolo, Federica, Spallone, Vincenza, Borgiani, Paola

Journal:

Acta Diabetologica

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

24

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

Baghernajad-Salehi, Leila, D&rsquo, Apice, Maria Rosaria, Babameto-Laku, Anila, Biancolella, Michela, Mitre, Anila, Russo, Silvia, Di Daniele, Nicola, Sangiuolo, Federica, Mokini, Vahe, Novelli, Giusep

Journal:

Acta Haematologica

Year:

2009

Language:

english

File:

PDF, 398 KB

english, 2009

25

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

Ciccacci, Cinzia, Morganti, Roberto, Fusco, Davide, D’Amato, Cinzia, Cacciotti, Laura, Greco, Carla, Rufini, Sara, Novelli, Giuseppe, Sangiuolo, Federica, Marfia, Girolama A., Borgiani, Paola, Spallon

Journal:

Acta Diabetologica

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

26

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

Sangiuolo, Federica, Novelli, Giuseppe, Murru, Stefania, Dallapiccola, Bruno

Journal:

Year:

1991

Language:

english

File:

PDF, 211 KB

english, 1991

27

In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

Sangiuolo, Federica, Filareto, Antonio, Spitalieri, Paola, Scaldaferri, Maria Lucia, Mango, Ruggiero, Bruscia, Emanuela, Citro, Gennaro, Brunetti, Ercole, De Felici, Massimo, Novelli, Giuseppe

Journal:

Human Gene Therapy

Year:

2005

Language:

english

File:

PDF, 273 KB

english, 2005

28

Prenatal Diagnosis of Cockayne Syndrome Type A Based on the Identification of Two Novel Mutations in the ERCC8 Gene

Conte, Chiara, D'Apice, Maria Rosaria, Botta, Annalisa, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 17.35 MB

english, 2009

29

Diagnostic CFTR mutation analysis

D'Apice, Maria Rosaria, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Expert Opinion on Medical Diagnostics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

30

82. Cftr Gene Targeting in Murine ES Cells Mediated by the SFHR Technique

Sangiuolo, Federica, Favia, Maria, Guerra, Lorenzo, Filareto, Antonio, Scaldaferri, Maria Lucia, Caroppo, Rosa, Spitalieri, Paola, Mango, Ruggiero, Bruscia, Emanuela, Gruenert, Dieter, Casavola, Valer

Journal:

Molecular Therapy

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

31

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Morini, Elena, Sangiuolo, Federica, Caporossi, Daniela, Novelli, Giuseppe, Amati, Francesca

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 422 KB

english, 2015

32

Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy (SMA) Disease

Sangiuolo, Federica, Botta, Annalisa, Filareto, Antonio, Spitalieri, Paola, Novelli, Giuseppe

Journal:

Current Genomics

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

33

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, N

Journal:

Acta Neuropathologica Communications

Year:

2015

Language:

english

File:

PDF, 2.09 MB

english, 2015

34

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing

Cascella, Raffaella, Stocchi, Laura, Strafella, Claudia, Mezzaroma, Ivano, Mannazzu, Marco, Vullo, Vincenzo, Montella, Francesco, Parruti, Giustino, Borgiani, Paola, Sangiuolo, Federica, Novelli, Gius

Journal:

Pharmacogenomics

Year:

2015

Language:

english

File:

PDF, 1.21 MB

english, 2015

35

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Gigante, Laura, Paganini, Irene, Frontali, Marina, Ciabattoni, Serena, Sangiuolo, Federica Carla, Papi, Laura

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 1.60 MB

english, 2016

36

Pharmacogenetics of human androgens and prostatic diseases

Novelli, Giuseppe, Margiotti, Katia, Sangiuolo, Federica, Reichardt, Juergen KV

Journal:

Pharmacogenomics

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

37

Toward the pharmacogenomics of cystic fibrosis – an update

Sangiuolo, Federica, D’Apice, Maria Rosaria, Gambardella, Stefano, Di Daniele, Nicola, Novelli, Giuseppe

Journal:

Pharmacogenomics

Year:

2004

Language:

english

File:

PDF, 244 KB

english, 2004

38

The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes

Pierandrei, Silvia, Luchetti, Andrea, Sanchez, Massimo, Novelli, Giuseppe, Sangiuolo, Federica, Lucarelli, Marco

Journal:

Molecular Therapy — Nucleic Acids

Year:

2016

Language:

english

File:

PDF, 2.29 MB

english, 2016

39

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts

Pantic, Boris, Borgia, Doriana, Giunco, Silvia, Malena, Adriana, Kiyono, Tohru, Salvatori, Sergio, De Rossi, Anita, Giardina, Emiliano, Sangiuolo, Federica, Pegoraro, Elena, Vergani, Lodovica, Botta,

Journal:

Experimental Cell Research

Year:

2016

Language:

english

File:

PDF, 6.79 MB

english, 2016

40

Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis

Cascella, Raffaella, Strafella, Claudia, Longo, Giuliana, Maccarone, Mara, Borgiani, Paola, Sangiuolo, Federica, Novelli, Giuseppe, Giardina, Emiliano

Journal:

Pharmacogenomics

Year:

2016

Language:

english

File:

PDF, 1.05 MB

english, 2016

41

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations

Cascella, Raffaella, Strafella, Claudia, Gambardella, Stefano, Longo, Giuliana, Borgiani, Paola, Sangiuolo, Federica, Novelli, Giuseppe, Giardina, Emiliano

Journal:

ELECTROPHORESIS

Year:

2016

Language:

english

File:

PDF, 305 KB

english, 2016

42

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

Cassone, Marco, Ferradini, Valentina, Longo, Giuliana, Sarchielli, Paola, Murasecco, Donatella, Romoli, Michele, Pasquini, Elisabetta, Novelli, Giuseppe, Prontera, Paolo, Sangiuolo, Federica

Journal:

Year:

2016

Language:

english

File:

PDF, 652 KB

english, 2016

43

Obituary: Professor Dieter C Gruenert

Novelli, Giuseppe, Sangiuolo, Federica C

Journal:

Cell Death Discovery

Year:

2016

Language:

english

File:

PDF, 160 KB

english, 2016

44

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 445 KB

english, 2016

45

A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation

Capuano, Rosamaria, Spitalieri, Paola, Talarico, Rosa Valentina, Domakoski, Ana Carolina, Catini, Alexandro, Paolesse, Roberto, Martinelli, Eugenio, Novelli, Giuseppe, Sangiuolo, Federica, Di Natale,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

46

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

Lanzolla, Giulia, Vancieri, Giuseppe, Lanciotti, Silvia, Sangiuolo, Federica, Menegatti, Elisa, Federici, Luca, Moretti, Costanzo, Brancati, Francesco

Journal:

Gynecological Endocrinology

Year:

2017

Language:

english

File:

PDF, 982 KB

english, 2017

47

Towards the pharmacogenomics of cystic fibrosis

Sangiuolo, Federica, D’Apice, Maria Rosaria, Bruscia, Emanuela, Lucidi, Vincenzina, Novelli, Giuseppe

Journal:

Pharmacogenomics

Year:

2002

Language:

english

File:

PDF, 233 KB

english, 2002

48

[IEEE 2017 ISOCS/IEEE International Symposium on Olfaction and Electronic Nose (ISOEN) - Montreal, QC, Canada (2017.5.28-2017.5.31)] 2017 ISOCS/IEEE International Symposium on Olfaction and Electronic Nose (ISOEN) - Identification of stem cells differentiation steps

Capuano, Rosamaria, Spitalieri, Paola, Valentina Talarico, Rosa, Carolina Domakoski, Ana, Catini, Alexandro, Paolesse, Roberto, Martinelli, Eugenio, Novelli, Giuseppe, Sangiuolo, Federica, Di Natale,

Year:

2017

Language:

english

File:

PDF, 985 KB

english, 2017

49

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

Bulli, Cristina, Battistella, Pier Antonio, Bordignon, Marta, Bramanti, Placido, Novelli, Giuseppe, Sangiuolo, Federica

Journal:

Year:

2009

Language:

english

File:

PDF, 576 KB

english, 2009

50

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

Maroofian, Reza, Murdocca, Michela, Rezaei-Delui, Hossein, Nekooei, Amirhossein, Mojarad, Majid, Sangiuolo, Federica, Novelli, Giuseppe, Superti-Furga, Andrea, D’Apice, Maria Rosaria

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 205 KB

english, 2018