Works matching AU De Luca, Alessandro

Results: 130

Enhancing Air Compressor Fault Diagnosis: A Comparative Study of GPT‐2 and Traditional Machine Learning Models.

Published in:

Macromolecular Symposia, 2025, v. 414, n. 3, p. 1, doi. 10.1002/masy.70057

By:

Rezazadeh, Nima;
Perfetto, Donato;
Caputo, Francesco;
De Luca, Alessandro

Publication type:

Article

Effects of DHA Oral Supplementation on Plasma Resolvin D1 and D2 Levels in Naïve Breast Cancer Patients.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1694, doi. 10.3390/cancers17101694

By:

Molfino, Alessio;
Imbimbo, Giovanni;
Salerno, Gerardo;
Lionetto, Luana;
De Luca, Alessandro;
Simmaco, Maurizio;
Gallicchio, Carmen;
Picconi, Orietta;
Amabile, Maria Ida;
Muscaritoli, Maurizio

Publication type:

Article

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Published in:

Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112

By:

Piceci‐Sparascio, Francesca;
Palencia‐Campos, Adrian;
Soto‐Bielicka, Patricia;
D'Anzi, Angela;
Guida, Valentina;
Rosati, Jessica;
Caparros‐Martin, Jose A.;
Torrente, Isabella;
D'Asdia, M. Cecilia;
Versacci, Paolo;
Briuglia, Silvana;
Lapunzina, Pablo;
Tartaglia, Marco;
Marino, Bruno;
Digilio, M. Cristina;
Ruiz‐Perez, Victor L.;
De Luca, Alessandro

Publication type:

Article

Cover Image, Volume 39, Issue 10.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622

By:

Ferese, Rosangela;
Bonetti, Monica;
Consoli, Federica;
Guida, Valentina;
Sarkozy, Anna;
Lepri, Francesca Romana;
Versacci, Paolo;
Gambardella, Stefano;
Calcagni, Giulio;
Margiotti, Katia;
Piceci Sparascio, Francesca;
Hozhabri, Hossein;
Mazza, Tommaso;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Tartaglia, Marco;
Marino, Bruno;
Hertog, Jeroen den;
De Luca, Alessandro

Publication type:

Article

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593

By:

Ferese, Rosangela;
Bonetti, Monica;
Consoli, Federica;
Guida, Valentina;
Sarkozy, Anna;
Lepri, Francesca Romana;
Versacci, Paolo;
Gambardella, Stefano;
Calcagni, Giulio;
Margiotti, Katia;
Piceci Sparascio, Francesca;
Hozhabri, Hossein;
Mazza, Tommaso;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Tartaglia, Marco;
Marino, Bruno;
Hertog, Jeroen den;
De Luca, Alessandro

Publication type:

Article

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 760, doi. 10.1002/humu.21492

By:

Lepri, Francesca;
De Luca, Alessandro;
Stella, Lorenzo;
Rossi, Cesare;
Baldassarre, Giuseppina;
Pantaleoni, Francesca;
Cordeddu, Viviana;
Williams, Bradley J.;
Dentici, Maria L.;
Caputo, Viviana;
Venanzi, Serenella;
Bonaguro, Michela;
Kavamura, Ines;
Faienza, Maria F.;
Pilotta, Alba;
Stanzial, Franco;
Faravelli, Francesca;
Gabrielli, Orazio;
Marino, Bruno;
Neri, Giovanni

Publication type:

Article

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 280, doi. 10.1002/humu.9359

By:

Pedrini, Elena;
De Luca, Alessandro;
Valente, Enza Maria;
Maini, Veronica;
Capponcelli, Silvia;
Mordenti, Marina;
Mingarelli, Rita;
Sangiorgi, Luca;
Dallapiccola, Bruno

Publication type:

Article

Mutations of the Nogo-66 receptor ( RTN4R) gene in schizophrenia.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9292

By:

Sinibaldi, Lorenzo;
De Luca, Alessandro;
Bellacchio, Emanuele;
Conti, Emanuela;
Pasini, Augusto;
Paloscia, Claudio;
Spalletta, Gianfranco;
Caltagirone, Carlo;
Pizzuti, Antonio;
Dallapiccola, Bruno

Publication type:

Article

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9245

By:

Luca, Alessandro De;
Schirinzi, Annalisa;
Buccino, Anna;
Bottillo, Irene;
Sinibaldi, Lorenzo;
Torrente, Isabella;
Ciavarella, Angela;
Dottorini, Tania;
Porciello, Roberto;
Giustini, Sandra;
Calvieri, Stefano;
Dallapiccola, Bruno

Publication type:

Article

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay(Communicated by Paolo Fortina).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 622, doi. 10.1002/humu.10215

By:

Alessia Colosimo;
Valentina Guida;
Luciana Rigoli;
Chiara Di Bella;
Alessandro De Luca;
Silvana Briuglia;
Liborio Stuppia;
Damiano Carmelo Salpietro

Publication type:

Article

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9039

By:

Origone, Paola;
De Luca, Alessandro;
Bellini, Carlo;
Buccino, Anna;
Mingarelli, Rita;
Costabel, Simona;
La Rosa, Carmen;
Garrè, Cecilia;
Coviello, Domenico A.;
Ajmar, Franco;
Dallapiccola, Bruno;
Bonioli, Eugenio

Publication type:

Article

Reliability of DHPLC in mutational screening of β-globin (HBB) alleles.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 287, doi. 10.1002/humu.10046

By:

Colosimo, Alessia;
Guida, Valentina;
De Luca, Alessandro;
Cappabianca, Maria Pia;
Bianco, Ida;
Palka, Giandomenico;
Dallapiccola, Bruno

Publication type:

Article

Selective-site pacing in paediatric patients: a new application of the Select Secure system.

Published in:

EP: Europace, 2009, v. 11, n. 5, p. 601, doi. 10.1093/europace/eup058

By:

Cantù, Francesco;
De Filippo, Paolo;
Gabbarini, Fulvio;
Borghi, Adele;
Brambilla, Roberta;
Ferrero, Paolo;
Comisso, Jennifer;
Marotta, Tiziana;
De Luca, Alessandro;
Gavazzi, Antonello

Publication type:

Article

Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8S488X0

By:

Marano, Massimo;
Motolese, Francesco;
Consoli, Federica;
De Luca, Alessandro;
Di Lazzaro, Vincenzo

Publication type:

Article

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 4, p. 178, doi. 10.3109/01677063.2015.1091452

By:

Nicita, Francesco;
Garone, Giacomo;
Papetti, Laura;
Consoli, Federica;
Magliozzi, Monia;
De Luca, Alessandro;
Spalice, Alberto

Publication type:

Article

A review on analytical failure criteria for composite materials.

Published in:

AIMS Materials Science, 2017, v. 4, n. 5, p. 1165, doi. 10.3934/matersci.2017.5.1165

By:

De Luca, Alessandro;
Caputo, Francesco

Publication type:

Article

ON SOME PROBLEMS RELATED TO PALINDROME CLOSURE.

Published in:

RAIRO - Theoretical Informatics & Applications, 2008, v. 42, n. 4, p. 679, doi. 10.1051/ita:2007064

By:

Bucci, Michaelangelo;
De Luca, Aldo;
De Luca, Alessandro;
Zamboni, Luca Q.

Publication type:

Article

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Published in:

Genes, 2025, v. 16, n. 1, p. 28, doi. 10.3390/genes16010028

By:

Selvatici, Rita;
Guida, Valentina;
Maffei, Massimo;
Irrera, Milena Agata;
Margutti, Alice;
Bisceglia, Paola;
Mogni, Massimo;
Melchionda, Erica;
Stoico, Giuseppina;
Grifone, Nicoletta;
Bocciardo, Laura;
Salerio, Simone;
Nagliati, Vittoria;
Alberico, Angela;
Tringali, Giusy;
Melles, Cristina;
De Luca, Alessandro;
Ferlini, Alessandra;
Coviello, Domenico;
Curcio, Cristina

Publication type:

Article

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Published in:

Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047

By:

Calcagni, Giulio;
Pugnaloni, Flaminia;
Digilio, Maria Cristina;
Unolt, Marta;
Putotto, Carolina;
Niceta, Marcello;
Baban, Anwar;
Piceci Sparascio, Francesca;
Drago, Fabrizio;
De Luca, Alessandro;
Tartaglia, Marco;
Marino, Bruno;
Versacci, Paolo

Publication type:

Article

DNA Methylation in the Diagnosis of Monogenic Diseases.

Published in:

Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355

By:

Cerrato, Flavia;
Sparago, Angela;
Ariani, Francesca;
Brugnoletti, Fulvia;
Calzari, Luciano;
Coppedè, Fabio;
De Luca, Alessandro;
Gervasini, Cristina;
Giardina, Emiliano;
Gurrieri, Fiorella;
Lo Nigro, Cristiana;
Merla, Giuseppe;
Miozzo, Monica;
Russo, Silvia;
Sangiorgi, Eugenio;
Sirchia, Silvia M;
Squeo, Gabriella Maria;
Tabano, Silvia;
Tabolacci, Elisabetta;
Torrente, Isabella

Publication type:

Article

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.

Published in:

Cell Death & Disease, 2019, v. 10, n. 5, p. N.PAG, doi. 10.1038/s41419-019-1582-5

By:

Zalfa, Cristina;
Rota Nodari, Laura;
Vacchi, Elena;
Gelati, Maurizio;
Profico, Daniela;
Boido, Marina;
Binda, Elena;
De Filippis, Lidia;
Copetti, Massimiliano;
Garlatti, Valentina;
Daniele, Paola;
Rosati, Jessica;
De Luca, Alessandro;
Pinos, Francesca;
Cajola, Laura;
Visioli, Alberto;
Mazzini, Letizia;
Vercelli, Alessandro;
Svelto, Maria;
Vescovi, Angelo Luigi

Publication type:

Article

DHA Oral Supplementation Modulates Serum Epoxydocosapentaenoic Acid (EDP) Levels in Breast Cancer Patients.

Published in:

Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/1280987

By:

Molfino, Alessio;
Amabile, Maria Ida;
Lionetto, Luana;
Spagnoli, Alessandra;
Ramaccini, Cesarina;
De Luca, Alessandro;
Simmaco, Maurizio;
Monti, Massimo;
Muscaritoli, Maurizio

Publication type:

Article

The unexpected social cost of inguinal hernioplasty procedures derived from the COVID‐19 pandemic: Surgical trend analysis based on an Italian hospital series.

Published in:

World Journal of Surgery, 2024, v. 48, n. 4, p. 801, doi. 10.1002/wjs.12105

By:

De Luca, Alessandro;
Gurrado, Angela;
Prete, Francesco Paolo;
Pepe, Angelo Santo;
De Luca, Giuseppe Massimiliano;
Testini, Mario

Publication type:

Article

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Published in:

2019

By:

Assunto, Antonia;
Ferrara, Ursula;
De Luca, Alessandro;
Pivonello, Claudia;
Lombardo, Lisa;
Piscitelli, Annapina;
Tortora, Cristina;
Pinna, Valentina;
Daniele, Paola;
Pivonello, Rosario;
Russo, Maria Giovanna;
Limongelli, Giuseppe;
Colao, Annamaria;
Tartaglia, Marco;
Strisciuglio, Pietro;
Melis, Daniela

Publication type:

journal article

Immunohistochemical Expression of Neurotrophic Tyrosine Kinase Receptors 1 and 2 in Lung Carcinoma: Potential Discriminators Between Squamous and Nonsquamous Subtypes.

Published in:

Archives of Pathology & Laboratory Medicine, 2011, v. 135, n. 4, p. 433, doi. 10.5858/2010-0038-oa.1

By:

Terry, Jefferson;
De Luca, Alessandro;
Leung, Samuel;
Peacock, Graeme;
Wang, Yuzhuo;
Elliot, W. Mark;
Huntsman, David

Publication type:

Article

Portable Negative Pressure Wound Dressing in Oncoplastic Conservative Surgery for Breast Cancer: A Valid Ally.

Published in:

Medicina (1010660X), 2023, v. 59, n. 10, p. 1703, doi. 10.3390/medicina59101703

By:

Casella, Donato;
Fusario, Daniele;
Pesce, Anna Lisa;
Marcasciano, Marco;
Lo Torto, Federico;
Luridiana, Gianluigi;
De Luca, Alessandro;
Cuomo, Roberto;
Ribuffo, Diego

Publication type:

Article

Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities.

Published in:

BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-17

By:

Press, Joshua Z.;
De Luca, Alessandro;
Boyd, Niki;
Young, Sean;
Troussard, Armelle;
Ridge, Yolanda;
Kaurah, Pardeep;
Kalloger, Steve E.;
Blood, Katherine A.;
Smith, Margaret;
Spellman, Paul T.;
Yuker Wang;
Miller, Dianne M.;
Horsman, Doug;
Faham, Malek;
Gilks, C. Blake;
Gray, Joe;
Huntsman, David G.

Publication type:

Article

MDM2 protein expression is a negative prognostic marker in breast carcinoma.

Published in:

2006

By:

Turbin, Dmitry A.;
Cheang, Maggie C. U.;
Bajdik, Chris D.;
Gelmon, Karen A.;
Yorida, Erika;
De Luca, Alessandro;
Nielsen, Torsten O.;
Huntsman, David G.;
Gilks, C. Blake

Publication type:

journal article

Modelling approaches for surface densification process of sintered gear teeth.

Published in:

International Journal of Advanced Manufacturing Technology, 2024, v. 132, n. 3/4, p. 1769, doi. 10.1007/s00170-024-13432-y

By:

De Luca, Alessandro;
Caputo, Francesco;
Naclerio, Francesco;
Sepe, Raffaele;
Armentani, Enrico

Publication type:

Article

Influence of dimension, building position, and orientation on mechanical properties of EBM lattice Ti6Al4V trusses.

Published in:

International Journal of Advanced Manufacturing Technology, 2022, v. 122, n. 7/8, p. 3183, doi. 10.1007/s00170-022-10051-3

By:

Sepe, Raffaele;
De Luca, Alessandro;
Giannella, Venanzio;
Borrelli, Rosario;
Franchitti, Stefania;
Di Caprio, Francesco;
Caputo, Francesco

Publication type:

Article

Should the early surgery threshold be moved to 72 h in over-85 patients with hip fracture? A single-center retrospective evaluation on 941 patients.

Published in:

Archives of Orthopaedic & Trauma Surgery, 2023, v. 143, n. 6, p. 3091, doi. 10.1007/s00402-022-04509-y

By:

De Luca, Alessandro;
Murena, Luigi;
Zanetti, Michela;
De Colle, Paolo;
Ratti, Chiara;
Canton, Gianluca

Publication type:

Article

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.

Published in:

Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00063

By:

Orsini, Chiara;
Petillo, Roberta;
D'Ambrosio, Paola;
Ergoli, Manuela;
Picillo, Esther;
Scutifero, Marianna;
Passamano, Luigia;
De Luca, Alessandro;
Politano, Luisa

Publication type:

Article

Trajectory control of a non-linear one-link flexible arm.

Published in:

International Journal of Control, 1989, v. 50, n. 5, p. 1699, doi. 10.1080/00207178908953460

By:

LUCA, ALESSANDRO DE;
SICILIANO, BRUNO

Publication type:

Article

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00939-6

By:

Sirchia, Fabio;
Fantasia, Ilaria;
Feresin, Agnese;
Giorgio, Elisa;
Faletra, Flavio;
Mordeglia, Denise;
Barbieri, Moira;
Guida, Valentina;
De Luca, Alessandro;
Stampalija, Tamara

Publication type:

Article

Decoupling and feedback linearization of robots with mixed rigid/elastic joints.

Published in:

International Journal of Robust & Nonlinear Control, 1998, v. 8, n. 11, p. 965, doi. 10.1002/(SICI)1099-1239(199809)8:11<965::AID-RNC371>3.0.CO;2-4

By:

De Luca, Alessandro

Publication type:

Article

Pentalogy of Cantrell with Complete Ectopia Cordis in a Fetus with Asplenia.

Published in:

2012

By:

LUDWIG, KATHRIN;
SALMASO, ROBERTO;
COSMI, ERICH;
IARIA, LOREDANA;
DE LUCA, ALESSANDRO;
MARGIOTTI, KATIA;
CITTON, VALENTINA;
MANARA, RENZO;
RUGGE, MASSIMO

Publication type:

Case Study

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome.

Published in:

ESC Heart Failure, 2021, v. 8, n. 3, p. 2310, doi. 10.1002/ehf2.13260

By:

Frustaci, Andrea;
De Luca, Alessandro;
Galea, Nicola;
Verardo, Romina;
Guida, Valentina;
Carrozzo, Rosalba;
Chimenti, Cristina;
Frustaci, Emanuela;
Sansone, Luigi;
Russo, Matteo Antonio

Publication type:

Article

FEM Simulation and Experimental Tests on the SMAW Welding of a Dissimilar T-Joint.

Published in:

Metals (2075-4701), 2021, v. 11, n. 7, p. 1016, doi. 10.3390/met11071016

By:

Sepe, Raffaele;
Giannella, Venanzio;
Greco, Alessandro;
De Luca, Alessandro

Publication type:

Article

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 1, p. 76, doi. 10.1007/s100380050113

By:

Mangino, Massimo;
Torrente, Isabella;
De Luca, Alessandro;
Sanchez, Otto;
Dallapiccola, Bruno;
Novelli, Giuseppe

Publication type:

Article

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2133, doi. 10.1093/hmg/ddz046

By:

Fusco, Carmela;
Nardella, Grazia;
Fischetto, Rita;
Copetti, Massimiliano;
Petracca, Antonio;
Annunziata, Francesca;
Augello, Bartolomeo;
D'Asdia, Maria Cecilia;
Petrucci, Simona;
Mattina, Teresa;
Rella, Annalisa;
Cassina, Matteo;
Bengala, Mario;
Biagini, Tommaso;
Causio, Francesco Andrea;
Caldarini, Camilla;
Brancati, Francesco;
Luca, Alessandro De;
Guarnieri, Vito;
Micale, Lucia

Publication type:

Article

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335

By:

Palencia-Campos, Adrian;
Ullah, Asmat;
Nevado, Julian;
Yıldırım, Ruken;
Unal, Edip;
Ciorraga, Maria;
Barruz, Pilar;
Chico, Lucia;
Piceci-Sparascio, Francesca;
Guida, Valentina;
De Luca, Alessandro;
Kayserili, Hülya;
Ullah, Irfan;
Burmeister, Margit;
Lapunzina, Pablo;
Ahmad, Wasim;
Morales, Aixa V.;
Ruiz-Perez, Victor L.

Publication type:

Article

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152

By:

Caparrós-Martín, José A.;
De Luca, Alessandro;
Cartault, François;
Aglan, Mona;
Temtamy, Samia;
Otaify, Ghada A.;
Mehrez, Mennat;
Valencia, María;
Vázquez, Laura;
Alessandri, Jean-Luc;
Nevado, Julián;
Rueda-Arenas, Inmaculada;
Heath, Karen E.;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Goodship, Judith A.;
Mill, Pleasantine;
Lapunzina, Pablo;
Ruiz-Perez, Victor L.

Publication type:

Article

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4315, doi. 10.1093/hmg/ddu148

By:

Flex, Elisabetta;
Jaiswal, Mamta;
Pantaleoni, Francesca;
Martinelli, Simone;
Strullu, Marion;
Fansa, Eyad K.;
Caye, Aurélie;
De Luca, Alessandro;
Lepri, Francesca;
Dvorsky, Radovan;
Pannone, Luca;
Paolacci, Stefano;
Zhang, Si-Cai;
Fodale, Valentina;
Bocchinfuso, Gianfranco;
Rossi, Cesare;
Burkitt-Wright, Emma M.M.;
Farrotti, Andrea;
Stellacci, Emilia;
Cecchetti, Serena

Publication type:

Article

COMBINATORIAL PROPERTIES OF STURMIAN PALINDROMES.

Published in:

International Journal of Foundations of Computer Science, 2006, v. 17, n. 3, p. 557, doi. 10.1142/S0129054106003991

By:

DE LUCA, ALDO;
DE LUCA, ALESSANDRO

Publication type:

Article

Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308

By:

Leoni, Chiara;
Viscogliosi, Germana;
Onesimo, Roberta;
Verdolotti, Tommaso;
Biagini, Tommaso;
Mazza, Tommaso;
De Luca, Alessandro;
Perri, Lucrezia;
Trevisan, Valentina;
Flex, Elisabetta;
Tartaglia, Marco;
Zampino, Giuseppe

Publication type:

Article

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 563, doi. 10.1111/cge.14040

By:

D'Amico, Alessandra;
Rosano, Carmen;
Pannone, Luca;
Pinna, Valentina;
Assunto, Antonia;
Motta, Marialetizia;
Ugga, Lorenzo;
Daniele, Paola;
Mandile, Roberta;
Mariniello, Lucio;
Siano, Maria Anna;
Santoro, Claudia;
Piluso, Giulio;
Martinelli, Simone;
Strisciuglio, Pietro;
De Luca, Alessandro;
Tartaglia, Marco;
Melis, Daniela

Publication type:

Article

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112

By:

Mastromoro, Gioia;
Guadagnolo, Daniele;
Marchionni, Enrica;
Torres, Barbara;
Goldoni, Marina;
Onori, Annamaria;
Bernardini, Laura;
De Luca, Alessandro;
Torrente, Isabella;
Pizzuti, Antonio

Publication type:

Article

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 957, doi. 10.1002/ajmg.a.61543

By:

Hozhabri, Hossein;
Talebi, Mehrdad;
Mehrjardi, Mohammad Y. V.;
De Luca, Alessandro;
Dehghani, Mohammadreza

Publication type:

Article

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 508, doi. 10.1002/ajmg.a.61431

By:

Giuffrida, Maria G.;
Mastromoro, Gioia;
Guida, Valentina;
Truglio, Mauro;
Fabbretti, Maria;
Torres, Barbara;
Mazza, Tommaso;
De Luca, Alessandro;
Roggini, Mario;
Bernardini, Laura;
Pizzuti, Antonio

Publication type:

Article

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1902, doi. 10.1002/ajmg.a.37082

By:

Garavelli, Livia;
Cordeddu, Viviana;
Errico, Stefania;
Bertolini, Patrizia;
Street, Maria Elisabeth;
Rosato, Simonetta;
Pollazzon, Marzia;
Wischmeijer, Anita;
Ivanovski, Ivan;
Daniele, Paola;
Bacchini, Ermanno;
Lombardi, Alfonsa Anna;
Izzi, Giancarlo;
Biasucci, Giacomo;
Del Rossi, Carmine;
Corradi, Domenico;
Cazzaniga, Giovanni;
Dominici, Carlo;
Rossi, Cesare;
De Luca, Alessandro

Publication type:

Article