D’Apice, Maria Rosaria : rechercher sur Z-Library

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1

Genetics and Genomics of Breast Cancer: update and translational perspectives

Biancolella, Michela, Testa, Barbara, Baghernajad Salehi, Leila, DâApice, Maria Rosaria, Novelli, Giuseppe

Journal:

Seminars in Cancer Biology

Année:

2020

Fichier:

PDF, 2.18 MB

2020

2

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Novelli, Antonio, Biancolella, Michela, Borgiani, Paola, Cocciadiferro, Dario, Colona, Vito Luigi, DâApice, Maria Rosaria, Rogliani, Paola, Zaffina, Salvatore, Leonardis, Francesca, Campana, Andrea,

Journal:

Année:

2020

Fichier:

PDF, 535 KB

2020

3

Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and drosophila

Antonio Simeone, Maria Rosaria D'Apice, Vincenzo Nigro, Jordi Casanova, Franco Graziani, Dario Acampora, Virginia Avantaggiato

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 15.64 MB

english, 1994

4

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

Année:

2017

Langue:

english

Fichier:

PDF, 690 KB

english, 2017

5

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

Année:

2018

Langue:

english

Fichier:

PDF, 787 KB

english, 2018

6

European lipodystrophy registry: background and structure

von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, DâApice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C. M., Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze,

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 1.66 MB

2020

7

Somatic and gonadal mosaicism in Hutchinson–Gilford progeria

Wim Wuyts, Martine Biervliet, Edwin Reyniers, Maria Rosaria D'Apice, Giuseppe Novelli, Katrien Storm

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 120 KB

english, 2005

8

Elbow deformities in a patient with mandibuloacral dysplasia type A

Valeria Guglielmi, Monica D'Adamo, Maria Rosaria D'Apice, Alfonso Bellia, Davide Lauro, Massimo Federici, Renato Lauro, Giuseppe Novelli, Paolo Sbraccia

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 127 KB

english, 2010

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

Année:

2011

Langue:

english

Fichier:

PDF, 331 KB

english, 2011

10

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

Année:

2004

Langue:

english

Fichier:

PDF, 688 KB

english, 2004

11

CARD15 mutation analysis in an Italian population. Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease

Piero Vavassori, Paola Borgiani, Livia Biancone, Maria Rosaria D'Apice, Giovanna Del Vecchio Blanco, Laura Vallo, Francesca De Nigris, Ivan Monteleone, Giovanni Monteleone, Francesco Pallone, Giuseppe

Journal:

Inflammatory Bowel Diseases

Année:

2004

Langue:

english

Fichier:

PDF, 108 KB

english, 2004

12

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24

Vicki J. Cunningham, Maria Rosaria D'Apice, Norma Licata, Giuseppe Novelli, Tim Cundy

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 891 KB

english, 2010

13

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)

Elisabetta Flex, Alessandro De Luca, Maria Rosaria D'Apice, Anna Buccino, Bruno Dallapiccola, Giuseppe Novelli

Journal:

Neuromuscular Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 158 KB

english, 2002

14

The strange case of the ‘lumper’ lamin A/C gene and human premature ageing

Giuseppe Novelli, Maria Rosaria D'Apice

Journal:

Trends in Molecular Medicine

Année:

2003

Langue:

english

Fichier:

PDF, 689 KB

english, 2003

15

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

Maria Rosaria D'Apice, Stefano Gambardella, Silvia Russo, Vincenzina Lucidi, Anna Maria Nardone, Adalgisa Pietropolli, Giuseppe Novelli

Journal:

Prenatal Diagnosis

Année:

2004

Langue:

english

Fichier:

PDF, 101 KB

english, 2004

16

Protein farnesylation and disease

Novelli, Giuseppe, D’Apice, Maria Rosaria

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 345 KB

english, 2012

17

Denaturing HPLC in laboratory diagnosis of hereditary angioedema

Guarino, Maria Domenica, Perricone, Carlo, Guarino, Sabina, Gambardella, Stefano, D'Apice, Maria Rosaria, Fontana, Luigi, Novelli, Giuseppe, Perricone, Roberto

Journal:

Journal of Allergy and Clinical Immunology

Année:

2007

Langue:

english

Fichier:

PDF, 147 KB

english, 2007

18

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

Année:

2002

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2002

19

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

Année:

2009

Langue:

english

Fichier:

PDF, 398 KB

english, 2009

20

Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment

Daria Camozzi, Maria Rosaria D’Apice, Elisa Schena…

Journal:

Histochemistry and Cell Biology

Année:

2012

Langue:

english

Fichier:

PDF, 511 KB

english, 2012

21

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy

Columbaro, Marta, Mattioli, Elisabetta, Maraldi, Nadir M., Ortolani, Michela, Gasparini, Laura, D'Apice, Maria Rosaria, Postorivo, Diana, Nardone, Anna Maria, Avnet, Sofia, Cortelli, Pietro, Liguori,

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2013

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2013

22

Corrigendum to “Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant Leukodystrophy” [Biochim. Biophys. Acta, Mol. Basis Dis. 1832 (3) (March 2013) 411–420]

Columbaro, Marta, Mattioli, Elisabetta, Maraldi, Nadir M., Ortolani, Michela, Gasparini, Laura, D'Apice, Maria Rosaria, Postorivo, Diana, Nardone, Anna Maria, Avnet, Sofia, Cortelli, Pietro, Liguori,

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2013

Langue:

english

Fichier:

PDF, 122 KB

english, 2013

23

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

Année:

2009

Langue:

english

Fichier:

PDF, 17.35 MB

english, 2009

24

Diagnostic CFTR mutation analysis

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

Journal:

Expert Opinion on Medical Diagnostics

Année:

2008

Langue:

english

Fichier:

PDF, 260 KB

english, 2008

25

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmi

Journal:

BMC Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.45 MB

english, 2015

26

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

Garg, Abhimanyu, Subramanyam, Lalitha, Agarwal, Anil K., Simha, Vinaya, Levine, Benjamin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Crow, Yanick

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 581 KB

english, 2009

27

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases

Spitalieri, Paola, Talarico, Rosa V., Botta, Annalisa, Murdocca, Michela, D'Apice, Maria Rosaria, Orlandi, Augusto, Giardina, Emiliano, Santoro, Massimo, Brancati, Francesco, Novelli, Giuseppe, Sangiu

Journal:

Cellular Reprogramming (Formerly "Cloning and Stem Cells")

Année:

2015

Fichier:

PDF, 1.74 MB

2015

28

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases

Spitalieri, Paola, Talarico, Rosa V., Botta, Annalisa, Murdocca, Michela, D'Apice, Maria Rosaria, Orlandi, Augusto, Giardina, Emiliano, Santoro, Massimo, Brancati, Francesco, Novelli, Giuseppe, Sangiu

Journal:

Cellular Reprogramming (Formerly "Cloning and Stem Cells")

Année:

2015

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2015

29

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

Année:

2015

Langue:

english

Fichier:

PDF, 2.09 MB

english, 2015

30

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

Capanni, Cristina, Squarzoni, Stefano, Cenni, Vittoria, D’Apice, Maria Rosaria, Gambineri, Alessandra, Novelli, Giuseppe, Wehnert, Manfred, Pasquali, Renato, Maraldi, Nadir M., Lattanzi, Giovanna

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2012

31

Toward the pharmacogenomics of cystic fibrosis – an update

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

Journal:

Pharmacogenomics

Année:

2004

Langue:

english

Fichier:

PDF, 244 KB

english, 2004

32

The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation

di Masi, Alessandra, D'Apice, Maria Rosaria, Ricordye, Ruggero, Tanzarella, Caterina, Novelli, Giuseppe

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 719 KB

english, 2008

33

Gene Expression Profiling of Fibroblasts From a Human Progeroid Disease (Mandibuloacral Dysplasia, MAD #248370) Through cDNA Microarrays

Amati, Francesca, Biancolella, Michela, D'apice, Maria Rosaria, Gambardella, Stefano, Mango, Ruggiero, Sbraccia, Paolo, D'Adamo, Monica, Margiotti, Katia, Nardone, Annamaria, Lewis, Marc, Novelli, Giu

Journal:

Gene Expression

Année:

2004

Langue:

english

Fichier:

PDF, 183 KB

english, 2004

34

The Etiology of Acute Recurrent Pancreatitis in Children

Lucidi, Vincenzina, Alghisi, Federico, Dall'Oglio, Luigi, D'Apice, Maria Rosaria, Monti, Lidia, De Angelis, Paola, Gambardella, Stefano, Angioni, Adriano, Novelli, Giuseppe

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 108 KB

english, 2011

35

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

Burla, Romina, Carcuro, Mariateresa, Torre, Mattia La, Fratini, Federica, Crescenzi, Marco, D'Apice, Maria Rosaria, Spitalieri, Paola, Raffa, Grazia Daniela, Astrologo, Letizia, Lattanzi, Giovanna, Cu

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2016

36

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

Année:

2016

Langue:

english

Fichier:

PDF, 445 KB

english, 2016

37

Towards the pharmacogenomics of cystic fibrosis

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

Journal:

Pharmacogenomics

Année:

2002

Langue:

english

Fichier:

PDF, 233 KB

english, 2002

38

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Filesi, Ilaria, Gullotta, Francesca, Lattanzi, Giovanna, D'Apice, Maria Rosaria, Capanni, Cristina, Nardone, Anna Maria, Columbaro, Marta, Scarano, Gioacchino, Mattioli, Elisabetta, Sabatelli, Patrizi

Journal:

Physiological Genomics

Année:

2005

Langue:

english

Fichier:

PDF, 510 KB

english, 2005

39

MANDIBULOACRAL DYSPLASIA: A PREMATURE AGEING DISEASE WITH ASPECTS OF PHYSIOLOGICAL AGEING

Cenni, Vittoria, D’Apice, Maria Rosaria, Garagnani, Paolo, Columbaro, Marta, Novelli, Giuseppe, Franceschi, Claudio, Lattanzi, Giovanna

Journal:

Ageing Research Reviews

Année:

2017

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2017

40

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

Année:

2018

Langue:

english

Fichier:

PDF, 205 KB

english, 2018

41

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins

Evangelisti, Camilla, Bernasconi, Pia, Cavalcante, Paola, Cappelletti, Cristina, D’Apice, Maria Rosaria, Sbraccia, Paolo, Novelli, Giuseppe, Prencipe, Sabino, Lemma, Silvia, Baldini, Nicola, Avnet, So

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 6.60 MB

english, 2015

42

Workload measurement for molecular genetics laboratory: A survey study

Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sa

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2018

43

Emerging perspectives on laminopathies

Politano, Luisa, Lattanzi, Giovanna, Benedetti, Sara, D'Apice, Maria Rosaria, Maggi, Lorenzo, Carboni, Nicola, Scarano, Emanuela

Journal:

Cell Health and Cytoskeleton

Année:

2016

Fichier:

PDF, 366 KB

2016

44

Emerging perspectives on laminopathies

Politano, Luisa, Lattanzi, Giovanna, Benedetti, Sara, D'Apice, Maria Rosaria, Maggi, Lorenzo, Carboni, Nicola, Scarano, Emanuela

Journal:

Cell Health and Cytoskeleton

Année:

2016

Langue:

english

Fichier:

PDF, 366 KB

english, 2016

45

Long term breeding of the Lmna G609G progeric mouse: Characterization of homozygous and heterozygous models

Zaghini, Anna, Sarli, Giuseppe, Barboni, Catia, Sanapo, Mara, Pellegrino, Valeria, Diana, Alessia, Linta, Nikolina, Rambaldi, Julie, D'Apice, Maria Rosaria, Murdocca, Michela, Baleani, Massimiliano, B

Journal:

Experimental Gerontology

Année:

2020

Fichier:

PDF, 1.85 MB

2020

46

Carrier frequency of CFTR variants in the nonâCaucasian populations by genome aggregation database (gnomAD)âbased analysis

Nappo, Stefania, Mannucci, Liliana, Novelli, Giuseppe, Sangiuolo, Federica, D'Apice, Maria Rosaria, Botta, Annalisa

Journal:

Annals of Human Genetics

Année:

2020

Fichier:

PDF, 1.07 MB

2020

47

Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

Amati, Francesca, Vancheri, Chiara, Latini, Andrea, Colona, Vito Luigi, Grelli, Sandro, D'Apice, Maria Rosaria, Balestrieri, Emanuela, Passarelli, Chiara, Minutolo, Antonella, Loddo, Sara, Di Lorenzo,

Journal:

Année:

2020

Fichier:

PDF, 1.02 MB

2020