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1

Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis

Cesaretti, Claudia, Melloni, Giulia, Quagliarini, Donatella, Fogliani, Roberto, Zaina, Barbara, Bedeschi, Maria Francesca, Lalatta, Faustina, Trespidi, Laura, Natacci, Federica

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 84 KB

english, 2013

2

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 1.55 MB

english, 2011

3

Molecular characterization of FRAXE-positive subjects with mental impairment in two unrelated Italian families

Russo, Silvia, Selicorni, Angelo, Bedeschi, Maria Francesca, Natacci, Federica, Viziello, Patrizia, Fortuna, Renato, Pagani, Giovanni, Dalpr�, Leda, Larizza, Lidia

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 224 KB

english, 1998

4

New case of the Richieri-Costa/Guion-Almeida syndrome

Natacci, F., Pierri, M., Rossetti, M., Sala, M., Larizza, L.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

5

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

F. Natacci, L. Corrado, M. Pierri, M. Rossetti, C. Zuccarini, P. Riva, M. Miozzo, L. Larizza

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 612 KB

english, 2000

6

FISH characterization of a supernumerary r(1)(::cen→q22::q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts

Palma Finelli, Pietro Cavalli, Daniela Giardino, Giulietta Gottardi, Federica Natacci, Salvatore Savasta, Lidia Larizza

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 443 KB

english, 2001

7

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation

Daniela Giardino, Palma Finelli, Silvia Russo, Giulietta Gottardi, Ornella Rodeschini, Maria Gabriella Atza, Federica Natacci, Lidia Larizza

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 152 KB

english, 2002

8

Refined FISH characterization of a de novo 1p22–p36.2 paracentric inversion and associated 1p21–22 deletion in a patient with signs of 1p36 microdeletion syndrome

Palma Finelli, Daniela Giardino, Silvia Russo, Giulietta Gottardi, Francesca Cogliati, Graziano Grugni, Federka Natacci, Lidia Larizza

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

9

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

M.F. Bedeschi, L. Spaccini, T. Rizzuti, D.A. Coviello, P. Castorina, F. Natacci, F. Lalatta

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 34 KB

english, 2005

10

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs

Federica Natacci, Maria Baffico, Ugo Cavallari, Maria Francesca Bedeschi, Isabella Mura, Alessio Paffoni, Paolo Levi Setti, Maurizia Baldi, Faustina Lalatta

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 91 KB

english, 2008

11

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

Maria Francesca Bedeschi, Antonio Novelli, Laura Bernardini, Cecilia Parazzini, Vera Bianchi, Barbara Torres, Federica Natacci, Maria Grazia Giuffrida, Paola Ficarazzi, Bruno Dallapiccola, Faustina La

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 532 KB

english, 2008

12

Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients

Maria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, Federica Natacci, Anna Cereda, Donatella Milani, Silvia Maitz, Faustina Lalatta, Angelo Selicorni

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 103 KB

english, 2011

13

Norman–Roberts syndrome: characterization of the phenotype in early fetal life

Federica Natacci, Maria Francesca Bedeschi, Andrea Righini, Francesca Inverardi, Tommaso Rizzuti, Chiara Boschetto, Fabio Triulzi, Roberto Spreafico, Carolina Frassoni, Faustina Lalatta

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 384 KB

english, 2007

14

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations

Anna Ruggeri, Francesca Dulcetti, Monica Miozzo, Francesca R. Grati, Beatrice Grimi, Silvano Bellato, Federica Natacci, Federico Maggi, Giuseppe Simoni

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 115 KB

english, 2004

15

NF1exon

Patrizia Colapietro, Cristina Gervasini, Federica Natacci, Livia Rossi, Paola Riva, Lidia Larizza

Journal:

Year:

2003

Language:

english

File:

PDF, 219 KB

english, 2003

16

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population

F Natacci, P Colapietro, P Riva, L Corrado, LN Rossi, MM Maninetti, MC Casciati, CA Zambrino, Lanzi, L Larizza

Journal:

Molecular and Cellular Probes

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

17

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen H. Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 253 KB

english, 2000

18

Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1

Francesco Viola, Edoardo Villani, Federica Natacci, Angelo Selicorni, Giulia Melloni, Diego Vezzola, Giulio Barteselli, Chiara Mapelli, Cesare Pirondini, Roberto Ratiglia

Journal:

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

19

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Palma Finelli, Silvia Maria Sirchia, Maura Masciadri, Milena Crippa, Maria Paola Recalcati, Daniela Rusconi, Daniela Giardino, Laura Monti, Francesca Cogliati, Francesca Faravelli, Federica Natacci, L

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 520 KB

english, 2012

20

An unusual association between Neurofibromatosis type1 (NF1), prolactinoma and pheochromocytoma

Verga, Uberta, Masserini, Benedetta, Vaccaluzzo, Liborio, Filopanti, Marcello, Perrino, Michela, Natacci, Federica, Spada, Anna, Beck-Peccoz, Paolo

Journal:

Annales d'Endocrinologie

Year:

2012

File:

PDF, 52 KB

2012

21

Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome

Van Lierde, Andrea, Menni, Francesca, Bedeschi, Maria Francesca, Natacci, Federica, Guez, Sophie, Vizziello, Paola, Costantino, Maria Antonella, Lalatta, Faustina, Esposito, Susanna

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 118 KB

english, 2013

22

Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

Gentilin, Barbara, Guerneri, Silvana, Bianchi, Vera, Natacci, Federica, Colombo, Augusto, Fogliani, Roberto, Fortuna, Renato, Coviello, Domenico A., Curcio, Cristina, Lalatta, Faustina

Journal:

Twin Research and Human Genetics

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

23

Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis

Dilena, R., Abicht, A., Sergi, P., Comi, G. P., Fonzo, A. D., Chidini, G., Natacci, F., Barbieri, S., Lochmuller, H.

Journal:

Journal of Child Neurology

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

24

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality

Baranello, G., Cesaretti, C., Zambonin, F., Casalone, R., Granata, P., Esposito, S., Alfei, E., Natacci, F.

Journal:

Journal of Child Neurology

Year:

2013

Language:

english

File:

PDF, 130 KB

english, 2013

25

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Ferri, Lorenzo, Donati, Maria A, Funghini, Silvia, Cavicchi, Catia, Pensato, Viviana, Gellera, Cinzia, Natacci, Federica, Spaccini, Luigina, Gasperini, Serena, Vaz, Frédéric M, Cooper, David N, Guerri

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 344 KB

english, 2015

26

Double Pituitary and Conserved Function in an Adult Patient with Neurofibromatosis Type 1

Filopanti, M., Verga, U., Ermetici, F., Natacci, F., Lalatta, F., Avignone, S., Trespidi, L., Beck-Peccoz, P., Mantovani, G., Lania, A. G., Spada, A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 781 KB

english, 2011

27

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

Natacci, Federica, Melloni, Giulia, Motta, Francesca, Silipigni, Rosamaria, Doniselli, Fabio, Rizzuti, Tommaso, Frigerio, Marcello, Guerneri, Silvana

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 509 KB

english, 2015

28

COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, Silvia, Monguzzi, Alessandra, Damin, Francesco, Soriani, Nadia, Passiu, Marianna, Castellani, Carlo, Natacci, Federica, Curcio, Cristina, Seia, Manuela, Lalatta, Faustina, Chiari, Marcella,

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 2.79 MB

english, 2016

29

P14.01 * INTEGRATED GENETIC STUDIES OF NEUROFIBROMATOSIS TYPE 1. A TEN YEAR, ITALIAN EXPERIENCE

Bianchessi, D., Morosini, S., Ibba, C., Esposito, S., Saletti, V., Riva, D., Natacci, F., Finocchiaro, G., Eoli, M.

Journal:

Year:

2014

Language:

english

File:

PDF, 28 KB

english, 2014

30

Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Natacci, F., Moschetta, M., Bedeschi, M. F., Spaccini, L., Capelli, A., Segni, M. Di, Rizzuti, T., Mosca, F., Lalatta, F.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 172 KB

english, 2004

31

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

Natacci, Federica, Alfei, Enrico, Tararà, Lucia, D'Arrigo, Stefano, Zuffardi, Orsetta, Gentilin, Barbara, Pantaleoni, Chiara

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 500 KB

english, 2016

32

Developmental Abnormalities and Cancer Predisposition in Neurofibromatosis Type 1

Larizza, Lidia, Gervasini, Cristina, Natacci, Federica, Riva, Paola

Journal:

Current Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 411 KB

english, 2009

33

Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings

Natacci, Federica, Bianchi, Vera, Guerneri, Silvana, Rizzuti, Tommaso, Boito, Simona, Gentilin, Barbara, Bedeschi, Maria F., Lalatta, Faustina

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 185 KB

english, 2009

34

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

Russo, S., Bedeschi, M. F., Cogliati, F., Natacci, F., Gianotti, A., Parini, R., Selicorni, A., Larizza, L.

Journal:

Clinical Dysmorphology

Year:

2000

File:

PDF, 2.59 MB

2000

35

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression

Bedeschi, Maria Francesca, Escande, Fabienne, Bellini, Melissa, Natacci, Federica, Cavallari, Ugo, Lalatta, Faustina

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 147 KB

english, 2006

36

126 novel mutations in Italian patients with neurofibromatosis type 1

Bianchessi, Donatella, Morosini, Sara, Saletti, Veronica, Ibba, Maria Cristina, Natacci, Federica, Esposito, Silvia, Cesaretti, Claudia, Riva, Daria, Finocchiaro, Gaetano, Eoli, Marica

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

Language:

english

File:

PDF, 833 KB

english, 2015

37

[ASME ASME 2010 29th International Conference on Ocean, Offshore and Arctic Engineering - Shanghai, China (June 6–11, 2010)] 29th International Conference on Ocean, Offshore and Arctic Engineering: Volume 2 - Consequence Analysis of a Liquefied Natural Gas Leakage

Natacci, Faustina Beatriz, Ikeda, Nilton Hiroaki, Ramos Martins, Marcelo

Year:

2010

Language:

english

File:

PDF, 566 KB

english, 2010

38

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report

Biasucci, Giacomo, Morelli, Nicola, Natacci, Federica, Mastrangelo, Massimo

Journal:

Italian Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

39

The three factor eating questionnaire - R21: tradução para o português e aplicação em mulheres brasileiras

Natacci, Lara Cristiane, Ferreira Júnior, Mario

Journal:

Revista de Nutrição

Year:

2011

File:

PDF, 343 KB

2011

40

Omega 3 Consumption and Anxiety Disorders: A Cross-Sectional Analysis of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil)

Natacci, Lara, M. Marchioni, Dirce, C. Goulart, Alessandra, Nunes, Maria, B. Moreno, Arlinda, O. Cardoso, Letícia, Giatti, Luana, B. Molina, Maria, S. Santos, Itamar, R. Brunoni, André, A. Lotufo, Pau

Journal:

Year:

2018

Language:

english

File:

PDF, 285 KB

english, 2018

41

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonag

Journal:

Year:

2018

Language:

english

File:

PDF, 771 KB

english, 2018

42

Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)

Filopanti, Marcello, Verga, Uberta, Ulivieri, Fabio Massimo, Giavoli, Claudia, Rodari, Giulia, Arosio, Maura, Natacci, Federica, Spada, Anna

Journal:

Calcified Tissue International

Year:

2018

Language:

english

File:

PDF, 681 KB

english, 2018

43

NF1 Alterations are Linked to Increased HER2 Expression in Breast Cancer–Letter

Gambini, Donatella, Natacci, Federica, Cesaretti, Claudia, Fusco, Nicola

Journal:

Cancer Prevention Research

Year:

2019

Language:

english

File:

PDF, 160 KB

english, 2019

44

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients

Tritto, Viviana, Ferrari, Luca, Esposito, Silvia, Zuccotti, Paola, Bianchessi, Donatella, Natacci, Federica, Saletti, Veronica, Eoli, Marica, Riva, Paola

Journal:

Year:

2019

File:

PDF, 1.72 MB

2019

45

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Bianchessi, Donatella, Ibba, Maria Cristina, Saletti, Veronica, Blasa, Stefania, Langella, Tiziana, Paterra, Rosina, Cagnoli, Giulia Anna, Melloni, Giulia, Scuvera, Giulietta, Natacci, Federica, Cesar

Journal:

Year:

2020

File:

PDF, 734 KB

2020

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