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1

The ring 14 syndrome: Clinical and molecular definition

Marcella Zollino, Laura Seminara, Daniela Orteschi, Giuseppe Gobbi, Simona Giovannini, Elvio Della Giustina, Daniele Frattini, Angela Scarano, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 290 KB

english, 2009

2

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

Marco Luigetti, Amelia Conte, Francesca Madia, Maria Lucia Mereu, Marcella Zollino, Giuseppe Marangi, Maria Grazia Pomponi, Giuseppe Liberatore, Pietro Altilio Tonali, Mario Sabatelli

Journal:

Year:

2008

Language:

english

File:

PDF, 173 KB

english, 2008

3

Spinal hemangioblastoma presenting with low back pain in pregnancy

Capone, Fioravante, Profice, Paolo, Pilato, Fabio, Zollino, Marcella, Colosimo, Cesare, Di Lazzaro, Vincenzo

Journal:

The Spine Journal

Year:

2013

Language:

english

File:

PDF, 397 KB

english, 2013

4

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A, Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoff

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 3.41 MB

english, 2016

5

“Minimal” holoprosencephaly in a 14q deletion syndrome patient

Della Giustina, Elvio, Iodice, Alessandro, Spagnoli, Carlotta, Giovannini, Simona, Frattini, Daniele, Fusco, Carlo, Gobbi, Giuseppe, Zollino, Marcella, Neri, Giovanni

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

6

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation

Gatto, Antonio, Ferrara, Pietro, Leoni, Chiara, Onesimo, Roberta, Zollino, Marcella, Emma, Francesco, Zampino, Giuseppe

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 254 KB

english, 2017

7

More on the Noonan-CFC controversy

Neri, Giovanni, Zollino, Marcella

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 94 KB

english, 1996

8

From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome. And back?

Zollino, Marcella, Bova, Renato, Neri, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 259 KB

english, 1996

9

Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

Zollino, Marcella, Tiziano, Francesco, Di Stefano, Cristina, Neri, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 198 KB

english, 1999

10

Cytogenetic evidence for a less malignant leukemic cell population in the central nervous system in a critical case of acute myeloblastic leukemia

Mastrangelo, Renato, Tornesello, Assunta, Mastrangelo, Stefano, Bembo, Vincenzo, Zollino, Marcella, Neri, Giovanni

Journal:

Medical and Pediatric Oncology

Year:

1998

Language:

english

File:

PDF, 302 KB

english, 1998

11

Chromosome instability limited to the aneuploid clone in the Pallister–Killian syndrome: a pitfall in prenatal diagnosis

Marcella Zollino, Jolanta Bajer, Giovanni Neri

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 123 KB

english, 1999

12

Genotype–phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappalà, Agatino Battaglia, Maja Di Rocco

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 428 KB

english, 2000

13

Partial deletion of chromosome 12q is not usually associated with CFC syndrome

Marcella Zollino, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

14

Acute onset of juvenile myelodysplastic syndrome mimicking thrombotic thrombocytopenic purpura and rapidly evolving in overt myeloid leukemia

G. Leone, Simona Sica, Valerio De Stefano, Luciana Teofili, Luigi M. Larocca, Giuseppe d'Onofrio, Marcella Zollino

Journal:

American Journal of Hematology

Year:

1992

Language:

english

File:

PDF, 252 KB

english, 1992

15

The Noonan-CFC controversy

Giovanni Neri, Marcella Zollino, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 382 KB

english, 1991

16

Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology

Giuseppe Zampino, Pierpaolo Mastroiacovo, Roberta Ricci, Marcella Zollino, Giuseppe Segni, Maria Enrica Martini-Neri, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 860 KB

english, 1993

17

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1

Maurizio Genuardi, Maria Grazia Pomponi, Vincenza Sammito, Angelo Bellussi, Marcella Zollino, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 776 KB

english, 1993

18

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

Marcella Zollino, Cesare Colosimo, Orsetta Zuffardi, Elena Rossi, Alessandra Tosolini, Christopher A. Walsh, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 290 KB

english, 2003

19

The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): A description of a second case

Laura Rodríguez, Marcella Zollino, Salvador Climent, Elena Mansilla, Fermina López-Grondona, María Luisa Martínez-Fernández, Marina Murdolo, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 176 KB

english, 2005

20

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco, Marcella Zollino

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

21

Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype

Giuseppe Marangi, Vincenzo Leuzzi, Daniela Orteschi, Maria E. Grimaldi, Rosetta Lecce, Giovanni Neri, Marcella Zollino

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

22

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings

Maria Piccione, Emiliano Maresi, Marcella Zollino, Cinzia Sanfilippo, Laura Seminara, Giovanni Neri, Giovanni Corsello

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 319 KB

english, 2008

23

Late-onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

Alfredo Orrico, Marcella Zollino, Lucia Galli, Sabrina Buoni, Giuseppe Marangi, Vincenzo Sorrentino

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 105 KB

english, 2009

24

Mild Wolf–Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures

Cinzia Galasso, Adriana Lo-Castro, Nadia El-Malhany, Marcella Zollino, Marina Murdolo, Daniela Orteschi, Maria Luisa Manca Bitti, Paolo Curatolo

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 197 KB

english, 2010

25

Phenotypic map in ring 14 syndrome

Marcella Zollino, Daniela Orteschi, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

26

On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review

Marcella Zollino, Marina Murdolo, Giuseppe Marangi, Vanna Pecile, Cinzia Galasso, Laura Mazzanti, Giovanni Neri

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2008

Language:

english

File:

PDF, 257 KB

english, 2008

27

Pathogenic significance of deletions distal to the currently described Wolf–Hirschhorn syndrome critical regions on 4p16.3

Sarah T. South, Femke Hannes, Gene S. Fisch, Joris Robert Vermeesch, Marcella Zollino

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

28

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti

Fusco Francesca, Paciolla Mariateresa, Pescatore Alessandra, Lioi Maria Brigida, Ayuso Carmen, Faravelli Francesca, Gentile Mattia, Zollino Marcella, D'Urso Michele, Miano Maria Giuseppina, Ursini Mat

Journal:

Year:

2009

Language:

english

File:

PDF, 374 KB

english, 2009

29

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Willy M. Nillesen, Helger G. Yntema, Marco Moscarda, Nienke E. Verbeek, Louise C. Wilson, Frances Cowan, Marga Schepens, Annick Raas-Rothschild, Orly Gafni-Weinstein, Marcella Zollino, Raymon Vijzelaa

Journal:

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

30

Comparison between osteoblasts derived from human dental pulp stem cells and osteosarcoma cell lines

Annalisa Palmieri, Furio Pezzetti, Antonio Graziano, D'Aquino Riccardo, Ilaria Zollino, Giorgio Brunelli, Marcella Martinelli, Marzia Arlotti, Francesco Carinci

Journal:

Cell Biology International

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

31

The association of severe aplastic anaemia with the philadelphia chromosome and the bcr/abl transcript

Simona Sica, Patrizia Chiusolo, Marcella Zollino, Federica Sora, Nicola Piccirillo, Luca Laurenti, Giovanni Reddiconto, Giuseppe Leone

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

32

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy

Gabriella De Rosa, Manuela Pardeo, Serena Bria, Elena Caresta, Isabella Vasta, Giuseppe Zampino, Marcella Zollino, Antonio Alberto Zuppa, Marco Piastra

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 168 KB

english, 2005

33

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

Rosetta Lecce, Marina Murdolo, Gianfranco Gelli, Katharina Steindl, Livia Coppola, Anna Romano, Elisa Cupelli, Giovanni Neri, Marcella Zollino

Journal:

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

34

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Marcella Zollino, Rosetta Lecce, Marina Murdolo, Daniela Orteschi, Giuseppe Marangi, Angelo Selicorni, Alina Midro, Giovanni Sorge, Giuseppe Zampino, Luigi Memo, Domenica Battaglia, Michael Petersen,

Journal:

Year:

2007

Language:

english

File:

PDF, 365 KB

english, 2007

35

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Marcella Zollino, Rosetta Lecce, Marina Murdolo, Daniela Orteschi, Giuseppe Marangi, Angelo Selicorni, Alina Midro, Giovanni Sorge, Giuseppe Zampino, Luigi Memo, Domenica Battaglia, Michael Petersen,

Journal:

Year:

2008

File:

PDF, 106 KB

2008

36

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

Marco Luigetti, Amelia Conte, Francesca Madia, Giuseppe Marangi, Marcella Zollino, Irene Mancuso, Michele Dileone, Alessandra Del Grande, Vincenzo Di Lazzaro, Pietro Attilio Tonali, Mario Sabatelli

Journal:

Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 161 KB

english, 2009

37

Zirconium oxide regulates RNA interfering of osteoblast-like cells

Annalisa Palmieri, Furio Pezzetti, Giorgio Brunelli, Ilaria Zollino, Lorenzo Lo Muzio, Marcella Martinelli, Luca Scapoli, Marzia Arlotti, Elena Masiero, Francesco Carinci

Journal:

Journal of Materials Science: Materials in Medicine

Year:

2008

Language:

english

File:

PDF, 220 KB

english, 2008

38

Differences in osteoblast miRNA induced by cell binding domain of collagen and silicate-based synthetic bone

Annalisa Palmieri, Furio Pezzetti, Giorgio Brunelli, Ilaria Zollino, Luca Scapoli, Marcella Martinelli, Marzia Arlotti, Francesco Carinci

Journal:

Journal of Biomedical Science

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

39

Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy

Luca Laurenti, Michela Tarnani, Patrizia Chiusolo, Giuseppe La Torre, Mariagrazia Garzia, Marcella Zollino, Gina Zini, Mario Balducci, Giuseppe Leone, Simona Sica

Journal:

Clinical Transplantation

Year:

2008

Language:

english

File:

PDF, 102 KB

english, 2008

40

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

Chiara Veredice, Flaviana Bianco, Ilaria Contaldo, Daniela Orteschi, Maria Chiara Stefanini, Domenica Battaglia, Donatella Lettori, Francesco Guzzetta, Marcella Zollino

Journal:

Year:

2009

Language:

english

File:

PDF, 229 KB

english, 2009

41

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Zollino, Marcella, Gurrieri, Fiorella, Orteschi, Daniela, Marangi, Giuseppe, Leuzzi, Vincenzo, Neri, Giovanni

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 229 KB

english, 2010

42

Clinical utility gene card for: Mowat–Wilson syndrome

Zollino, Marcella, Garavelli, Livia, Rauch, Anita

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

43

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

Zollino, Marcella, Lecce, Rosetta, Selicorni, Angelo, Murdolo, Marina, Mancuso, Irene, Marangi, Giuseppe, Zampino, Giuseppe, Garavelli, Livia, Ferrarini, Alessandra, Rocchi, Mariano

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

44

CFC syndrome

Giovanni Neri, Maria Ines Kavamura, Marcella Zollino, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 30 KB

english, 2003

45

Electroclinical Patterns and Evolution of Epilepsy in the 4p– Syndrome

Domenica Battaglia, Giuseppe Zampino, Marcella Zollino, Paolo Mariotti, Celeste Acquafondata, Donatella Lettori, Marika Pane, Isabella Vasta, Giovanni Neri, Charlotte Dravet, Francesco Guzzetta

Journal:

Year:

2003

Language:

english

File:

PDF, 294 KB

english, 2003

46

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

Simona Giovannini, Daniele Frattini, Angela Scarano, Carlo Fusco, Gianna Bertani, Elvio Della Giustina, Paola Martinelli, Daniela Orteschi, Marcella Zollino, Giovanni Giovanni, Giuseppe Gobbi

Journal:

Epileptic Disorders

Year:

2010

Language:

english

File:

PDF, 578 KB

english, 2010

47

Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Romano Tenconi, Matteo Della Monica, Gioacchino Scarano, Domenica Battaglia, Donatella Lettori, Gessica Vasco, Marcella Zollino

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 669 KB

english, 2012

48

Chronic myelogenous leukemia in the course of chronic lymphocytic leukemia: Evidence for an independent clonal origin

Marcella Zollino, Maurizio Genuardi, Paola Tanci, Giorgio Mango, Carlo Rumi, Rosalba Mancini, Giovanni Neri

Journal:

Leukemia Research

Year:

1991

Language:

english

File:

PDF, 1.81 MB

english, 1991

49

Trisomy 4 as the sole karyotypic anomaly in acute biphenotypic leukemia with B lineage markers and in acute minimally differentiated myeloid leukemia (MO)

M.Christina Cox-Froncillo, Marcella Zollino, Giovanni Del Poeta, Jolanta Bajer, Roberto Stasi, Adriano Venditti, Maurizio Tribalto, Giovanni Neri, Giuseppe Papa

Journal:

Cancer Genetics and Cytogenetics

Year:

1995

Language:

english

File:

PDF, 178 KB

english, 1995

50

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

Maurizio Genuardi, Barbara Bardoni, Giovanna Floridia, Pietro Chiurazzi, Gioacchino Scarano, Marcella Zollino, Nicola Garcea, Maria Enrica Martini-Neri, Giovanni Neri

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 811 KB

english, 1995