Works matching AU Zollino, Marcella

Results: 76

Ph<sup>1</sup>-Chromosome-Positive Chronic Myelogenous Leukemia following a 1-Year 'Off-Therapy' Acute Lymphoblastic Leukemia.

Published in:

Oncology, 1988, v. 45, n. 5, p. 389, doi. 10.1159/000226648

By:

Leone, Giuseppe;
Marra, Roberto;
Pagano, Livio;
Storti, Sergio;
Zollino, Marcella;
Ricerca, Bianca Maria;
Mango, Giorgio

Publication type:

Article

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.845

By:

Zollino, Marcella;
Ranieri, Carlotta;
Grossi, Valentina;
Leoni, Chiara;
Lattante, Serena;
Mazzà, Daniela;
Simone, Cristiano;
Resta, Nicoletta

Publication type:

Article

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Published in:

Brain Pathology, 2016, v. 26, n. 2, p. 266, doi. 10.1111/bpa.12354

By:

Sabatelli, Mario;
Marangi, Giuseppe;
Conte, Amelia;
Tasca, Giorgio;
Zollino, Marcella;
Lattante, Serena

Publication type:

Article

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 6, p. 849, doi. 10.1111/epi.12617

By:

Zollino, Marcella;
Orteschi, Daniela;
Ruiter, Mariken;
Pfundt, Rolph;
Steindl, Katharina;
Cafiero, Concetta;
Ricciardi, Stefania;
Contaldo, Ilaria;
Chieffo, Daniela;
Ranalli, Domiziana;
Acquafondata, Celeste;
Murdolo, Marina;
Marangi, Giuseppe;
Asaro, Alessia;
Battaglia, Domenica

Publication type:

Article

Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 12, p. 2204, doi. 10.1111/epi.12393

By:

Giovannini, Simona;
Marangio, Lucia;
Fusco, Carlo;
Scarano, Angela;
Frattini, Daniele;
Della Giustina, Elvio;
Zollino, Marcella;
Neri, Giovanni;
Gobbi, Giuseppe

Publication type:

Article

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

Published in:

Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1810, doi. 10.1111/j.1528-1167.2009.02078.x

By:

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

Publication type:

Article

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

Published in:

EMBO Molecular Medicine, 2018, v. 10, n. 9, p. 1, doi. 10.15252/emmm.201708550

By:

Durigon, Romina;
Mitchell, Alice L.;
Jones, Aleck W. E.;
Manole, Andreea;
Mennuni, Mara;
Hirst, Elizabeth M. A.;
Houlden, Henry;
Maragni, Giuseppe;
Lattante, Serena;
Doronzio, Paolo Niccolo’;
Dalla Rosa, Ilaria;
Zollino, Marcella;
Holt, Ian J.;
Spinazzola, Antonella

Publication type:

Article

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

Published in:

2008

By:

Zollino, Marcella;
Lecce, Rosetta;
Murdolo, Marina;
Orteschi, Daniela;
Marangi, Giuseppe;
Selicorni, Angelo;
Midro, Alina;
Sorge, Giovanni;
Zampino, Giuseppe;
Memo, Luigi;
Battaglia, Domenica;
Petersen, Michael;
Pandelia, Effie;
Gyftodimou, Yolanda;
Faravelli, Francesca;
Tenconi, Romano;
Garavelli, Livia;
Mazzanti, Laura;
Fischetto, Rita;
Cavalli, Pietro

Publication type:

Correction Notice

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

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5

By:

Zollino, Marcella;
Lecce, Rosetta;
Murdolo, Marina;
Orteschi, Daniela;
Marangi, Giuseppe;
Selicorni, Angelo;
Midro, Alina;
Sorge, Giovanni;
Zampino, Giuseppe;
Memo, Luigi;
Battaglia, Domenica;
Petersen, Michael;
Pandelia, Effie;
Gyftodimou, Yolanda;
Faravelli, Francesca;
Tenconi, Romano;
Garavelli, Livia;
Mazzanti, Laura;
Fischetto, Rita;
Cavalli, Pietro

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 760, doi. 10.1007/s00439-005-0085-x

By:

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

Publication type:

Article

Detection of Pitt–Hopkins Syndrome Based on Morphological Facial Features.

Published in:

Applied Sciences (2076-3417), 2021, v. 11, n. 24, p. 12086, doi. 10.3390/app112412086

By:

D'Amato, Elena;
Reyes-Aldasoro, Constantino Carlos;
Consiglio, Arianna;
D'Amato, Gabriele;
Faienza, Maria Felicia;
Zollino, Marcella

Publication type:

Article

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 1, p. 65, doi. 10.1093/hmg/ddab015

By:

Lattante, Serena;
Doronzio, Paolo Niccolò;
Conte, Amelia;
Marangi, Giuseppe;
Martello, Francesco;
Bisogni, Giulia;
Meleo, Emiliana;
Colavito, Davide;
Giudice, Elda Del;
Patanella, Agata Katia;
Bernardo, Daniela;
Romano, Angela;
Zollino, Marcella;
Sabatelli, Mario

Publication type:

Article

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.

Published in:

Clinical Genetics, 1995, v. 47, n. 1, p. 38, doi. 10.1111/j.1399-0004.1995.tb03919.x

By:

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

Publication type:

Article

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z

By:

Leone, Maria Pia;
Morlino, Silvia;
Nardella, Grazia;
Pracella, Riccardo;
Giachino, Daniela;
Celli, Luca;
Baldo, Demetrio;
Turolla, Licia;
Piccione, Maria;
Salzano, Emanuela;
Busè, Martina;
Lastella, Patrizia;
Zollino, Marcella;
Cantone, Rachele;
Grosso, Enrico;
Zonta, Andrea;
Pasini, Barbara;
Piscopo, Carmelo;
De Maggio, Ilaria;
Priolo, Manuela

Publication type:

Article

A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 470, doi. 10.3109/21678421.2012.756036

By:

Luigetti, Marco;
Lattante, Serena;
Conte, Amelia;
Romano, Angela;
Zollino, Marcella;
Marangi, Giuseppe;
Sabatelli, Mario

Publication type:

Article

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 1, p. 66, doi. 10.3109/17482968.2012.692383

By:

Luigetti, Marco;
Quaranta, Davide;
Conte, Amelia;
Piccininni, Chiara;
Lattante, Serena;
Romano, Angela;
Silvestri, Gabriella;
Zollino, Marcella;
Sabatelli, Mario

Publication type:

Article

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2184, doi. 10.1002/ajmg.a.62740

By:

Onesimo, Roberta;
Delogu, Angelica Bibiana;
Blandino, Rita;
Leoni, Chiara;
Rosati, Jessica;
Zollino, Marcella;
Zampino, Giuseppe

Publication type:

Article

SYT1-associated neurodevelopmental disorder: a case series.

Published in:

2018

By:

Baker, Kate;
Gordon, Sarah L;
Melland, Holly;
Bumbak, Fabian;
Scott, Daniel J;
Jiang, Tess J;
Owen, David;
Turner, Bradley J;
Boyd, Stewart G;
Rossi, Mari;
Al-Raqad, Mohammed;
Elpeleg, Orly;
Peck, Dawn;
Mancini, Grazia M S;
Wilke, Martina;
Zollino, Marcella;
Marangi, Giuseppe;
Weigand, Heike;
Borggraefe, Ingo;
Haack, Tobias

Publication type:

journal article

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

Published in:

Epilepsia (Series 4), 2003, v. 44, n. 9, p. 1183, doi. 10.1046/j.1528-1157.2003.63502.x

By:

Battaglia, Domenjca;
Zampino, Giuseppe;
Zollino, Marcella;
Mariotti, Paolo;
Acquafondata, Celeste;
Lettori, Donatella;
Pane, Marika;
Vasta, Isabe11a;
Neri, Giovanni;
Dravet, Char1otte;
Guzzetta, Francesco

Publication type:

Article

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

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523

By:

Nillesen, Willy M.;
Yntema, Helger G.;
Moscarda, Marco;
Verbeek, Nienke E.;
Wilson, Louise C.;
Cowan, Frances;
Schepens, Marga;
Raas-Rothschild, Annick;
Gafni-Weinstein, Orly;
Zollino, Marcella;
Vijzelaar, Raymon;
Neri, Giovanni;
Nelen, Marcel;
Bokhoven, Hans van;
Giltay, Jacques;
Kleefstra, Tjitske

Publication type:

Article

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

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1284, doi. 10.1002/humu.21069

By:

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

Publication type:

Article

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178113

By:

D’ippolito, Silvia;
Di Simone, Nicoletta;
Orteschi, Daniela;
Pomponi, Maria Grazia;
Genuardi, Maurizio;
Sisti, Leuconoe Grazia;
Castellani, Roberta;
Rossi, Esther Diana;
Scambia, Giovanni;
Zollino, Marcella

Publication type:

Article

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Published in:

Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00587

By:

Zollino, Marcella;
Lattante, Serena;
Orteschi, Daniela;
Frangella, Silvia;
Doronzio, Paolo N.;
Contaldo, Ilaria;
Mercuri, Eugenio;
Marangi, Giuseppe

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 2, p. 184, doi. 10.1002/(SICI)1097-0223(199902)19:2<184::AID-PD508>3.0.CO;2-T

By:

Zollino, Marcella;
Bajer, Jolanta;
Neri, Giovanni

Publication type:

Article

Pembrolizumab as first-line treatment for metastatic uveal melanoma.

Published in:

Cancer Immunology, Immunotherapy, 2019, v. 68, n. 7, p. 1179, doi. 10.1007/s00262-019-02352-6

By:

Rossi, Ernesto;
Pagliara, Monica Maria;
Orteschi, Daniela;
Dosa, Tommaso;
Sammarco, Maria Grazia;
Caputo, Carmela Grazia;
Petrone, Gianluigi;
Rindi, Guido;
Zollino, Marcella;
Blasi, Maria Antonietta;
Cassano, Alessandra;
Bria, Emilio;
Tortora, Giampaolo;
Schinzari, Giovanni

Publication type:

Article

Unique genomic profile associated with pediatric uveal melanoma.

Published in:

European Journal of Ophthalmology, 2015, v. 25, n. 4, p. e31, doi. 10.5301/ejo.5000600

By:

Antonietta Blasi, Maria;
Orteschi, Daniela;
Pagliara, Monica M.;
Coco, Giulia;
Asaro, Alessia;
Mulè, Antonino;
Petrone, Gianluigi;
Zollino, Marcella

Publication type:

Article

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

Published in:

Clinical Transplantation, 2008, v. 22, n. 2, p. 191, doi. 10.1111/j.1399-0012.2007.00768.x

By:

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

Publication type:

Article

Linguistic and psychomotor development in children with chromosome 14 deletions.

Published in:

Clinical Linguistics & Phonetics, 2012, v. 26, n. 11/12, p. 962, doi. 10.3109/02699206.2012.728669

By:

Zampini, Laura;
D'Odorico, Laura;
Zanchi, Paola;
Zollino, Marcella;
Neri, Giovanni

Publication type:

Article

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 81, doi. 10.1111/cge.14414

By:

Pasquetti, Domizia;
L'Erario, Federica Francesca;
Marangi, Giuseppe;
Panfili, Arianna;
Chiurazzi, Pietro;
Sonnini, Elena;
Orteschi, Daniela;
Alfieri, Paolo;
Morleo, Manuela;
Nigro, Vincenzo;
Zollino, Marcella

Publication type:

Article

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1499, doi. 10.1038/ejhg.2015.19

By:

Cafiero, Concetta;
Marangi, Giuseppe;
Orteschi, Daniela;
Ali, Marwan;
Asaro, Alessia;
Ponzi, Emanuela;
Moncada, Alice;
Ricciardi, Stefania;
Murdolo, Marina;
Mancano, Giorgia;
Contaldo, Ilaria;
Leuzzi, Vincenzo;
Battaglia, Domenica;
Mercuri, Eugenio;
Slavotinek, Anne M;
Zollino, Marcella

Publication type:

Article

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280

By:

Gurrieri, Fiorella;
Zollino, Marcella;
Oliva, Antonio;
Pascali, Vincenzo;
Orteschi, Daniela;
Pietrobono, Roberta;
Camporeale, Antonella;
Coll Vidal, Monica;
Partemi, Sara;
Brugada, Ramon;
Bellocci, Fulvio;
Neri, Giovanni

Publication type:

Article

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 310, doi. 10.1038/ejhg.2012.175

By:

Boccuto, Luigi;
Lauri, Maria;
Sarasua, Sara M;
Skinner, Cindy D;
Buccella, Daniela;
Dwivedi, Alka;
Orteschi, Daniela;
Collins, Julianne S;
Zollino, Marcella;
Visconti, Paola;
DuPont, Barb;
Tiziano, Danilo;
Schroer, Richard J;
Neri, Giovanni;
Stevenson, Roger E;
Gurrieri, Fiorella;
Schwartz, Charles E

Publication type:

Article

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 229, doi. 10.1038/ejhg.2012.79

By:

Marangi, Giuseppe;
Leuzzi, Vincenzo;
Manti, Filippo;
Lattante, Serena;
Orteschi, Daniela;
Pecile, Vanna;
Neri, Giovanni;
Zollino, Marcella

Publication type:

Article

Clinical utility gene card for: Mowat-Wilson syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.12

By:

Zollino, Marcella;
Garavelli, Livia;
Rauch, Anita

Publication type:

Article

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

Published in:

2011

By:

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

Publication type:

Case Study

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

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203

By:

Zollino, Marcella;
Lecce, Rosetta;
Selicorni, Angelo;
Murdolo, Marina;
Mancuso, Irene;
Marangi, Giuseppe;
Zampino, Giuseppe;
Garavelli, Livia;
Ferrarini, Alessandra;
Rocchi, Mariano;
Opitz, John M;
Neri, Giovanni

Publication type:

Article

Letter.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 150, doi. 10.1038/sj.ejhg.5200611

By:

Anichkina, Anna;
Kulenich, Tatiana;
Zinchenko, Sergey;
Shagina, Irena;
Polyakov, Aleksander;
Ginter, Evgenii;
Evgrafov, Oleg;
Viktorova, Tatiana;
Khusnitdonova, Elza;
Zollino, Marcella;
Neri, Giovanni

Publication type:

Article

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

Published in:

Muscle & Nerve, 2008, v. 38, n. 2, p. 1060, doi. 10.1002/mus.21083

By:

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

Publication type:

Article

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 2, p. 189, doi. 10.1007/s10815-015-0622-z

By:

Midro, Alina;
Zollino, Marcella;
Wiland, Ewa;
Panasiuk, Barbara;
Iwanowski, Piotr;
Murdolo, Marina;
Śmigiel, Robert;
Sąsiadek, Maria;
Pilch, Jacek;
Kurpisz, Maciej

Publication type:

Article

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

Published in:

American Journal of Hematology, 1992, v. 41, n. 1, p. 64, doi. 10.1002/ajh.2830410114

By:

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

Publication type:

Article

Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 3898, doi. 10.3390/jcm12123898

By:

D'Ippolito, Silvia;
Longo, Giuliana;
Orteschi, Daniela;
Busnelli, Andrea;
Di Simone, Nicoletta;
Pulcinelli, Eleonora;
Schettini, Giorgia;
Scambia, Giovanni;
Zollino, Marcella

Publication type:

Article

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4078, doi. 10.3390/jcm11144078

By:

Alfieri, Paolo;
Macchiaiolo, Marina;
Collotta, Martina;
Montanaro, Federica Alice Maria;
Caciolo, Cristina;
Cumbo, Francesca;
Galassi, Paolo;
Panfili, Filippo Maria;
Cortellessa, Fabiana;
Zollino, Marcella;
Accadia, Maria;
Seri, Marco;
Tartaglia, Marco;
Bartuli, Andrea;
Mammì, Corrado;
Vicari, Stefano;
Priolo, Manuela

Publication type:

Article

Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4748, doi. 10.1093/hmg/ddt328

By:

Sabatelli, Mario;
Moncada, Alice;
Conte, Amelia;
Lattante, Serena;
Marangi, Giuseppe;
Luigetti, Marco;
Lucchini, Matteo;
Mirabella, Massimiliano;
Romano, Angela;
Del Grande, Alessandra;
Bisogni, Giulia;
Doronzio, Paolo Niccolo';
Rossini, Paolo Maria;
Zollino, Marcella

Publication type:

Article

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506

By:

Zollino, Marcella;
Marangi, Giuseppe;
Giurgea, Irina;
Whalen, Sandra;
Macchiaiolo, Marina;
Smigiel, Robert;
Thibert, Ronald L.;
Benoist, Ingrid;
Clayton‐Smith, Jill;
De Winter, Channa F.;
Deckers, Stijn;
Huisman, Sylvia;
Kruisinga, Frea;
Menke, Leonie;
Hennekam, Raoul C.;
Kempink, Dagmar;
Lamacchia, Vittoria;
Renieri, Alessandra;
Nordgren, Ann;
Routledge, Sue

Publication type:

Article

Gene Expression Profile of Glioblastoma Peritumoral Tissue: An Ex Vivo Study.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057145

By:

Mangiola, Annunziato;
Saulnier, Nathalie;
De Bonis, Pasquale;
Orteschi, Daniela;
Sica, Gigliola;
Lama, Gina;
Pettorini, Benedetta Ludovica;
Sabatino, Giovanni;
Zollino, Marcella;
Lauriola, Libero;
Colabianchi, Anna;
Proietti, Gabriella;
Kovacs, Gyula;
Maira, Giulio;
Anile, Carmelo

Publication type:

Article

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052264

By:

Savarese, Marco;
Piluso, Giulio;
Orteschi, Daniela;
Fruscio, Giuseppina Di;
Dionisi, Manuela;
Blanco, Francesca del Vecchio;
Torella, Annalaura;
Giugliano, Teresa;
Iacomino, Michele;
Zollino, Marcella;
Neri, Giovanni;
Nigro, Vincenzo

Publication type:

Article

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Published in:

2022

By:

Macchiaiolo, Marina;
Panfili, Filippo M.;
Vecchio, Davide;
Gonfiantini, Michaela V.;
Cortellessa, Fabiana;
Caciolo, Cristina;
Zollino, Marcella;
Accadia, Maria;
Seri, Marco;
Chinali, Marcello;
Mammì, Corrado;
Tartaglia, Marco;
Bartuli, Andrea;
Alfieri, Paolo;
Priolo, Manuela

Publication type:

journal article

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Published in:

2015

By:

Pavone, Piero;
Praticò, Andrea D.;
Falsaperla, Raffaele;
Ruggieri, Martino;
Zollino, Marcella;
Corsello, Giovanni;
Neri, Giovanni

Publication type:

journal article

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

Published in:

Neurogenetics, 2009, v. 10, n. 2, p. 151, doi. 10.1007/s10048-008-0159-8

By:

Terracciano, Alessandra;
Casali, Carlo;
Grieco, Gaetano;
Orteschi, Daniela;
Giandomenico, Silvia;
Seminara, Laura;
Fabio, Roberto;
Carrozzo, Rosalba;
Simonati, Alessandro;
Stevanin, Giovanni;
Zollino, Marcella;
Santorelli, Filippo

Publication type:

Article

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

Published in:

2013

By:

Luigetti, Marco;
Zollino, Marcella;
Conti, Guido;
Romano, Angela;
Sabatelli, Mario

Publication type:

Letter