Works matching AU Zollino, Marcella

Results: 76

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

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

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

Analysis of STMN2 CA repeats in italian ALS patients shows no association.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023, v. 24, n. 1/2, p. 152, doi. 10.1080/21678421.2022.2102430

By:

Doronzio, Paolo Niccolò;
Lattante, Serena;
Marangi, Giuseppe;
Martello, Francesco;
Conte, Amelia;
Bisogni, Giulia;
Bernardo, Daniela;
Patanella, Agata Katia;
Meleo, Emiliana;
Zollino, Marcella;
Sabatelli, Mario

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

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

Published in:

2005

By:

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

Publication type:

journal article

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Published in:

Genes, 2025, v. 16, n. 4, p. 469, doi. 10.3390/genes16040469

By:

L'Erario, Federica Francesca;
Gazzellone, Annalisa;
Contaldo, Ilaria;
Veredice, Chiara;
Carapelle, Marina;
Renzi, Anna Gloria;
Modafferi, Clarissa;
Palucci, Marta;
D'Ambrosio, Pino;
Sonnini, Elena;
Loberti, Lorenzo;
Panfili, Arianna;
Lucci Cordisco, Emanuela;
Chiurazzi, Pietro;
Trevisan, Valentina;
Leoni, Chiara;
Zampino, Giuseppe;
Pomponi, Maria Grazia;
Orteschi, Daniela;
Zollino, Marcella

Publication type:

Article

Exploring the Role of CCNF Variants in Italian ALS Patients.

Published in:

Genes, 2024, v. 15, n. 12, p. 1566, doi. 10.3390/genes15121566

By:

Bisogni, Giulia;
Conte, Amelia;
Costantino, Umberto;
Lattante, Serena;
Bernardo, Daniela;
Lucioli, Gabriele;
Patanella, Agata Katia;
Cimbolli, Paola;
Del Giudice, Elda;
Vettor, Federica;
Marangi, Giuseppe;
Doronzio, Paolo Niccolò;
Zollino, Marcella;
Sabatelli, Mario

Publication type:

Article

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Published in:

Genes, 2023, v. 14, n. 2, p. 245, doi. 10.3390/genes14020245

By:

Pasquetti, Domizia;
Marangi, Giuseppe;
Orteschi, Daniela;
Carapelle, Marina;
L'Erario, Federica Francesca;
Venditti, Romina;
Maietta, Sabrina;
Battaglia, Domenica Immacolata;
Contaldo, Ilaria;
Veredice, Chiara;
Zollino, Marcella

Publication type:

Article

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Published in:

2021

By:

Tabolacci, Elisabetta;
Pomponi, Maria Grazia;
Remondini, Laura;
Pietrobono, Roberta;
Orteschi, Daniela;
Nobile, Veronica;
Pucci, Cecilia;
Musto, Elisa;
Pane, Marika;
Mercuri, Eugenio M.;
Neri, Giovanni;
Genuardi, Maurizio;
Chiurazzi, Pietro;
Zollino, Marcella

Publication type:

Case Study

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Published in:

Genes, 2020, v. 11, n. 11, p. 1237, doi. 10.3390/genes11111237

By:

Morgan, Anna;
Lenarduzzi, Stefania;
Spedicati, Beatrice;
Cattaruzzi, Elisabetta;
Murru, Flora Maria;
Pelliccione, Giulia;
Mazzà, Daniela;
Zollino, Marcella;
Graziano, Claudio;
Ambrosetti, Umberto;
Seri, Marco;
Faletra, Flavio;
Girotto, Giorgia

Publication type:

Article

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.

Published in:

Genes, 2020, v. 11, n. 10, p. 1177, doi. 10.3390/genes11101177

By:

Bigoni, Stefania;
Marangi, Giuseppe;
Frangella, Silvia;
Panfili, Arianna;
Ognibene, Davide;
Squeo, Gabriella Maria;
Merla, Giuseppe;
Zollino, Marcella

Publication type:

Article

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Published in:

Genes, 2020, v. 11, n. 10, p. 1123, doi. 10.3390/genes11101123

By:

Lattante, Serena;
Marangi, Giuseppe;
Doronzio, Paolo Niccolò;
Conte, Amelia;
Bisogni, Giulia;
Zollino, Marcella;
Sabatelli, Mario

Publication type:

Article

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

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

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 636, doi. 10.1038/ng.2257

By:

Zollino, Marcella;
Orteschi, Daniela;
Murdolo, Marina;
Lattante, Serena;
Battaglia, Domenica;
Stefanini, Chiara;
Mercuri, Eugenio;
Chiurazzi, Pietro;
Neri, Giovanni;
Marangi, Giuseppe

Publication type:

Article

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 5, p. 523

By:

Meral, Cihan;
Malbora, Barış;
Çelikel, Fatih;
Aydemir, Gőkhan;
Sűleymanoğlu, Selami;
Zollino, Marcella;
Derbent, Murat

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

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 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

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

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

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

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

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

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

Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2003, doi. 10.1002/ajmg.a.62196

By:

Onesimo, Roberta;
Versacci, Paolo;
Delogu, Angelica Bibiana;
De Rosa, Gabriella;
Pugnaloni, Flaminia;
Blandino, Rita;
Leoni, Chiara;
Calcagni, Giulio;
Digilio, Maria C.;
Zollino, Marcella;
Marino, Bruno;
Zampino, Giuseppe

Publication type:

Article

Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2746, doi. 10.1002/ajmg.a.61840

By:

Macchiaiolo, Marina;
Panfili, Filippo Maria;
Gonfiantini, Michaela Veronika;
Mastrogiorgio, Gerarda;
Buonuomo, Paola Sabrina;
Gaspari, Stefania;
Longo, Daniela;
Zollino, Marcella;
Bartuli, Andrea

Publication type:

Article

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406

By:

Nevado, Julián;
Ho, Karen S.;
Zollino, Marcella;
Blanco, Raquel;
Cobaleda, César;
Golzio, Christelle;
Beaudry‐Bellefeuille, Isabelle;
Berrocoso, Sarah;
Limeres, Jacobo;
Barrúz, Pilar;
Serrano‐Martín, Candela;
Cafiero, Concetta;
Málaga, Ignacio;
Marangi, Giuseppe;
Campos‐Sánchez, Elena;
Moriyón‐Iglesias, Tania;
Márquez, Sorangui;
Markham, Leah;
Twede, Hope;
Lortz, Amanda

Publication type:

Article

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1991, doi. 10.1002/ajmg.a.40386

By:

De Bernardi, Margherita Lucia;
Ivanovski, Ivan;
Caraffi, Stefano Giuseppe;
Maini, Ilenia;
Street, Maria Elisabeth;
Bayat, Allan;
Zollino, Marcella;
Lepri, Francesca Romana;
Gnazzo, Maria;
Errichiello, Edoardo;
Superti‐Furga, Andrea;
Garavelli, Livia

Publication type:

Article

A novel truncating variant within exon 7 of <italic>KAT6B</italic> associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of <italic>KAT6B</italic>‐related disorders

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 455, doi. 10.1002/ajmg.a.38571

By:

Marangi, Giuseppe;
Di Giacomo, Marilena C.;
Lattante, Serena;
Orteschi, Daniela;
Patrizi, Sara;
Doronzio, Paolo N.;
Riviello, Francesco N.;
Vaisfeld, Alessandro;
Frangella, Silvia;
Zollino, Marcella

Publication type:

Article

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 409, doi. 10.1002/ajmg.a.38554

By:

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

Publication type:

Article

'Minimal' holoprosencephaly in a 14q deletion syndrome patient.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3216, doi. 10.1002/ajmg.a.38378

By:

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

Publication type:

Article

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co-morbidity model with additional copy number variations in a large family.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2890, doi. 10.1002/ajmg.a.36257

By:

Marangi, Giuseppe;
Orteschi, Daniela;
Milano, Valentina;
Mancano, Giorgia;
Zollino, Marcella

Publication type:

Article

Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2687, doi. 10.1002/ajmg.a.36261

By:

Genuardi, Maurizio;
Gurrieri, Fiorella;
Zollino, Marcella

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419

By:

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

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

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

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

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

Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations.

Published in:

2022

By:

Bonanni, Giulia;
Trevisan, Valentina;
Zollino, Marcella;
De Santis, Marco;
Romanzi, Federica;
Lanzone, Antonio;
Bevilacqua, Elisa

Publication type:

Case Study

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

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

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