Works matching AU Seri, Marco

Results: 110

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233

By:

Doimo, Mara;
Desbats, Maria Andrea;
Baldoin, Maria Cristina;
Lenzini, Elisabetta;
Basso, Giuseppe;
Murphy, Elaine;
Graziano, Claudio;
Seri, Marco;
Burlina, Alberto;
Sartori, Geppo;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235

By:

Bocciardi, Renata;
Giorda, Roberto;
Marigo, Valeria;
Zordan, Paola;
Montanaro, Donatella;
Gimelli, Stefania;
Seri, Marco;
Lerone, Margherita;
Ravazzolo, Roberto;
Gimelli, Giorgio

Publication type:

Article

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9058

By:

Filocamo, Mirella;
Mazzotti, Raffaella;
Stroppiano, Marina;
Seri, Marco;
Giona, Fiorina;
Parenti, Giancarlo;
Regis, Stefano;
Corsolini, Fabio;
Zoboli, Stefania;
Gatti, Rosanna

Publication type:

Article

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 85, doi. 10.1002/humu.1157

By:

Meloni, Ilaria;
Rubegni, Pietro;
De Aloe, Giovambattista;
Bruttini, Mirella;
Pianigiani, Elisa;
Cusano, Roberto;
Seri, Marco;
Mondillo, Sergio;
Federico, Antonio;
Bardelli, Anna Maria;
Andreassi, Lucio;
Fimiani, Michele;
Renieri, Alessandra

Publication type:

Article

MEFV mutations in Behçet's disease.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A

By:

Touitou, Isabelle;
Magne, Xavier;
Molinari, Nicolas;
Navarro, André;
Quellec, Alain Le;
Picco, Paolo;
Seri, Marco;
Ozen, Seza;
Bakkaloglu, Aysin;
Karaduman, Aysen;
Garnier, Jean Marc;
Demaille, Jacques;
Koné-Paut, Isabelle

Publication type:

Article

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Published in:

Bioinformatics, 2014, v. 30, n. 20, p. 2852, doi. 10.1093/bioinformatics/btu401

By:

Magi, Alberto;
Tattini, Lorenzo;
Palombo, Flavia;
Benelli, Matteo;
Gialluisi, Alessandro;
Giusti, Betti;
Abbate, Rosanna;
Seri, Marco;
Gensini, Gian Franco;
Romeo, Giovanni;
Pippucci, Tommaso

Publication type:

Article

Hereditäre Netzhautdystrophien aufgrund von RPE65-Varianten: Von der genetischen Diagnostik zur Therapie.

Published in:

Kompass Ophthalmologie, 2021, v. 7, n. 3, p. 115, doi. 10.1159/000519136

By:

Aoun, Manar;
Passerini, Ilaria;
Chiurazzi, Pietro;
Karali, Marianthi;
De Rienzo, Irene;
Sartor, Giovanna;
Murro, Vittoria;
Filimonova, Natalia;
Seri, Marco;
Banfi, Sandro

Publication type:

Article

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821

By:

Magini, Pamela;
Marco‐Marin, Clara;
Escamilla‐Honrubia, Juan M.;
Martinelli, Diego;
Dionisi-Vici, Carlo;
Faravelli, Francesca;
Forzano, Francesca;
Seri, Marco;
Rubio, Vicente;
Panza, Emanuele

Publication type:

Article

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 475, doi. 10.1002/acn3.722

By:

Pippucci, Tommaso;
Licchetta, Laura;
Baldassari, Sara;
Marconi, Caterina;
De Luise, Monica;
Myers, Candace;
Nardi, Elena;
Provini, Federica;
Cameli, Cinzia;
Minardi, Raffaella;
Bacchelli, Elena;
Giordano, Lucio;
Crichiutti, Giovanni;
d'Orsi, Giuseppe;
Seri, Marco;
Gasparre, Giuseppe;
Mefford, Heather C.;
Tinuper, Paolo;
Bisulli, Francesca;
Bianchi, Amedeo

Publication type:

Article

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Published in:

2010

By:

Ferrero, Giovanni Battista;
Baldassarre, Giuseppina;
Panza, Emanuele;
Valenzise, Mariella;
Pippucci, Tommaso;
Mussa, Alessandro;
Pepe, Ernesto;
Seri, Marco;
Silengo, Margherita Cirillo

Publication type:

journal article

Epstein-barr virus and gastric cancer: Data and unanswered questions.

Published in:

International Journal of Cancer, 1993, v. 53, n. 6, p. 898, doi. 10.1002/ijc.2910530605

By:

Leoncini, Lorenzo;
Vindigni, Carla;
Megha, Tiziana;
Funtò, Ilaria;
Pacenti, Lorenzo;
Musarò, Mariantonietta;
Tosi, Piero;
Renieri, Alessandra;
Seri, Marco;
Anagnostopoulos, Joannes

Publication type:

Article

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

Published in:

Genes, 2024, v. 15, n. 4, p. 430, doi. 10.3390/genes15040430

By:

Benvenuto, Mario;
Cesarini, Sofia;
Severi, Giulia;
Ambrosini, Enrico;
Russo, Angelo;
Seri, Marco;
Palumbo, Pietro;
Palumbo, Orazio;
Castori, Marco;
Panza, Emanuele;
Carella, Massimo

Publication type:

Article

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

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 8, p. 889, doi. 10.1038/sj.ejhg.5201844

By:

Deglincerti, Alessia;
De Giorgio, Roberto;
Cefle, Kivanc;
Devoto, Marcella;
Pippucci, Tommaso;
Castegnaro, Giovanni;
Panza, Emanuele;
Barbara, Giovanni;
Cogliandro, Rosanna F;
Mungan, Zeynel;
Palanduz, Sukru;
Corinaldesi, Roberto;
Romeo, Giovanni;
Seri, Marco;
Stanghellini, Vincenzo

Publication type:

Article

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 789, doi. 10.1038/sj.ejhg.5201405

By:

Marini, Monica;
Giacopelli, Francesca;
Seri, Marco;
Ravazzolo, Roberto

Publication type:

Article

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 314, doi. 10.1038/sj.ejhg.5201323

By:

D'Osualdo, Andrea;
Picco, Paolo;
Caroli, Francesco;
Gattorno, Marco;
Giacchino, Raffaella;
Fortini, Patrizia;
Corona, Fabrizia;
Tommasini, Alberto;
Salvi, Giuseppe;
Specchia, Fernando;
Obici, Laura;
Meini, Antonella;
Ricci, Antonio;
Seri, Marco;
Ravazzolo, Roberto;
Martini, Alberto;
Ceccherini, Isabella

Publication type:

Article

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 10, p. 777, doi. 10.1038/sj.ejhg.5200546

By:

Lo Nigro, Cristiana;
Cusano, Roberto;
Scaranari, Monica;
Cinti, Roberta;
Forabosco, Paola;
Morra, Vincenzo Brescia;
De Michele, Giuseppe;
Santoro, Lucio;
Davies, Sally;
Hurst, Jane;
Devoto, Marcella;
Ravazzolo, Roberto;
Seri, Marco

Publication type:

Article

Exclusion of the SCN2B gene as candidate for CMT4B.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 629, doi. 10.1038/sj.ejhg.5200220

By:

Bolino, Alessandra;
Seri, Marco;
Caroli, Francesco;
Eubanks, James;
Srinivasan, Jayashree;
Mandich, Paola;
Schenone, Angelo;
Quattrone, Aldo;
Romeo, Giovanni;
Catterall, William A;
Devoto, Marcella

Publication type:

Article

A new candidate region for the positional cloning of the XLP gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249

By:

Bolino, Alessandra;
Yin, Luo;
Seri, Marco;
Cusano, Roberto;
Cinti, Roberta;
Coffey, Alison;
Brooksbank, Robert;
Howell, Gareth;
Bentley, David;
Davis, Jack R;
Lanyi, Arpad;
Huang, Doli;
Stark, Markus;
Creaven, Martina;
Bjørkhaug, Lise;
Heitzmann, Fabrice;
Lamartine, Jérôme;
Gaudi, Simona;
Sylla, Bakary S

Publication type:

Article

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 345, doi. 10.1038/sj.ejhg.5200191

By:

Melchionda, Salvatore;
Seri, Marco;
Carella, Massimo;
Piemontese, Maria Rosaria;
Zhang, Xiao-xiao;
Zelante, Leopoldo;
Romeo, Giovanni;
Gasparini, Paolo

Publication type:

Article

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131

By:

Panza, Emanuele;
Martinelli, Diego;
Magini, Pamela;
Dionisi Vici, Carlo;
Seri, Marco

Publication type:

Article

Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

Published in:

Biomolecular Concepts, 2019, v. 10, n. 1, p. 120, doi. 10.1515/bmc-2019-0015

By:

Sagna, Tani;
Bonora, Elena;
Lamoussa Ouedraogo, Marie Nabonswindé;
Fusco, Daniela;
Zoure, Abdou Azaque;
Bisseye, Cyrille;
Djigma, Florencia;
Kafando, Jacques Gilbert;
Zongo, Nayi;
Douamba, Zoenabo;
Obiri-Yeboah, Dorcas;
Turchetti, Daniela;
Pietra, Virginio;
Lompo, Olga Melanie;
Ouedraogo, Charlemagne;
Seri, Marco;
Simpore, Jacques

Publication type:

Article

A Novel Null Homozygous Mutation Confirms<i>CACNA2D2</i> as a Gene Mutated in Epileptic Encephalopathy.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082154

By:

Pippucci, Tommaso;
Parmeggiani, Antonia;
Palombo, Flavia;
Maresca, Alessandra;
Angius, Andrea;
Crisponi, Laura;
Cucca, Francesco;
Liguori, Rocco;
Valentino, Maria Lucia;
Seri, Marco;
Carelli, Valerio

Publication type:

Article

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Published in:

Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 958, doi. 10.1111/j.1469-8749.2011.03993.x

By:

GARONE, CATERINA;
PIPPUCCI, TOMMASO;
CORDELLI, DUCCIO M;
ZUNTINI, ROBERTA;
CASTEGNARO, GIOVANNI;
MARCONI, CATERINA;
GRAZIANO, CLAUDIO;
MARCHIANI, VALENTINA;
VERROTTI, ALBERTO;
SERI, MARCO;
FRANZONI, EMILIO

Publication type:

Article

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.

Published in:

FASEB Journal, 2019, v. 33, n. 10, p. 1, doi. 10.1096/fj.201802722R

By:

Diquigiovanni, Chiara;
Bergamini, Christian;
Diaz, Rebeca;
Liparulo, Irene;
Bianco, Francesca;
Masin, Luca;
Baldassarro, Vito Antonio;
Rizzardi, Nicola;
Tranchina, Antonia;
Buscherini, Francesco;
Wischmeijer, Anita;
Pippucci, Tommaso;
Scarano, Emanuela;
Cordelli, Duccio Maria;
Fato, Romana;
Seri, Marco;
Paracchini, Silvia;
Bonora, Elena

Publication type:

Article

Experience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study.

Published in:

BMC Nursing, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12912-024-02659-5

By:

Godino, Lea;
Magi, Camilla Elena;
Bruzzone, Carla;
Bonora, Stefano;
Seri, Marco;
Varesco, Liliana;
Turchetti, Daniela

Publication type:

Article

Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis.

Published in:

European Stroke Journal, 2023, v. 8, n. 2, p. 501, doi. 10.1177/23969873221149848

By:

Vornetti, Gianfranco;
De Martino, Sara Rosa Maria;
Baroni, Maria Chiara;
Rossi, Cesare;
Seri, Marco;
Mariucci, Elisabetta;
Donti, Andrea;
Tonon, Caterina;
Lodi, Raffaele;
Spinardi, Luca

Publication type:

Article

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Published in:

Cerebellum, 2008, v. 7, n. 2, p. 184, doi. 10.1007/s12311-008-0053-9

By:

Mariotti, Caterina;
Brusco, Alfredo;
Bella, Daniela;
Cagnoli, Claudia;
Seri, Marco;
Gellera, Cinzia;
Donato, Stefano;
Taroni, Franco

Publication type:

Article

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Published in:

2017

By:

Graziano, Claudio;
Gusson, Elena;
Severi, Giulia;
Isidori, Federica;
Wischmeijer, Anita;
Brugnara, Milena;
Seri, Marco;
Rossi, Cesare

Publication type:

Letter to the Editor

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1489, doi. 10.1093/hmg/ddaa073

By:

Harel, Tamar;
Griffin, John N;
Arbogast, Thomas;
Monroe, Tanner O;
Palombo, Flavia;
Martinelli, Marcella;
Seri, Marco;
Pippucci, Tommaso;
Elpeleg, Orly;
Katsanis, Nicholas

Publication type:

Article

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 12, p. 2525, doi. 10.1093/hmg/ddw116

By:

Pelleri, Maria Chiara;
Cicchini, Elena;
Locatelli, Chiara;
Vitale, Lorenza;
Caracausi, Maria;
Piovesan, Allison;
Rocca, Alessandro;
Poletti, Giulia;
Seri, Marco;
Strippoli, Pierluigi;
Cocchi, Guido

Publication type:

Article

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 10, p. 2746, doi. 10.1093/hmg/ddv034

By:

Bartoletti-Stella, Anna;
Gasparini, Laura;
Giacomini, Caterina;
Corrado, Patrizia;
Terlizzi, Rossana;
Giorgio, Elisa;
Magini, Pamela;
Seri, Marco;
Baruzzi, Agostino;
Parchi, Piero;
Brusco, Alfredo;
Cortelli, Pietro;
Capellari, Sabina

Publication type:

Article

Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823

By:

Minardi, Raffaella;
Licchetta, Laura;
Baroni, Maria Chiara;
Pippucci, Tommaso;
Stipa, Carlotta;
Mostacci, Barbara;
Severi, Giulia;
Toni, Francesco;
Bergonzini, Luca;
Carelli, Valerio;
Seri, Marco;
Tinuper, Paolo;
Bisulli, Francesca

Publication type:

Article

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1204, doi. 10.1002/ajmg.a.62068

By:

Tedesco, Maria Giovanna;
Lonardo, Fortunato;
Ceccarini, Caterina;
Cesarano, Carla;
Digilio, Maria Cristina;
Magliozzi, Monia;
Rogaia, Daniela;
Mencarelli, Amedea;
Leoni, Chiara;
Piscopo, Carmelo;
Imperatore, Valentina;
Falco, Maria Teresa;
Fontana, Paolo;
Nardone, Anna Maria;
Novelli, Antonio;
Troiani, Stefania;
Seri, Marco;
Prontera, Paolo

Publication type:

Article

Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3258, doi. 10.1002/ajmg.a.37873

By:

Magini, Pamela;
Palombo, Flavia;
Boito, Simona;
Lanzoni, Giulia;
Mongelli, Patrizia;
Rizzuti, Tommaso;
Baccarin, Marco;
Pippucci, Tommaso;
Seri, Marco;
Lalatta, Faustina

Publication type:

Article

Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852

By:

Wischmeijer, Anita;
Van Laer, Lut;
Tortora, Giada;
Bolar, Nikhita Ajit;
Van Camp, Guy;
Fransen, Erik;
Peeters, Nils;
di Bartolomeo, Roberto;
Pacini, Davide;
Gargiulo, Gaetano;
Turci, Simone;
Bonvicini, Marco;
Mariucci, Elisabetta;
Lovato, Luigi;
Brusori, Stefano;
Ritelli, Marco;
Colombi, Marina;
Garavelli, Livia;
Seri, Marco;
Loeys, Bart L.

Publication type:

Article

Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717

By:

Cordelli, Duccio Maria;
Garavelli, Livia;
Savasta, Salvatore;
Guerra, Azzurra;
Pellicciari, Alessandro;
Giordano, Lucio;
Bonetti, Silvia;
Cecconi, Ilaria;
Wischmeijer, Anita;
Seri, Marco;
Rosato, Simonetta;
Gelmini, Chiara;
Della Giustina, Elvio;
Ferrari, Anna Rita;
Zanotta, Nicoletta;
Epifanio, Roberta;
Grioni, Daniele;
Malbora, Baris;
Mammi, Isabella;
Mari, Francesca

Publication type:

Article

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3211, doi. 10.1002/ajmg.a.35656

By:

Graziano, Claudio;
David, Michèle;
Magini, Pamela;
Superti-Furga, Andrea;
Seri, Marco

Publication type:

Article

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 917, doi. 10.1002/ajmg.a.35265

By:

Magini, Pamela;
Monica, Matteo Della;
Uzielli, Maria Luisa Giovannucci;
Mongelli, Patrizia;
Scarselli, Gloria;
Gambineri, Eleonora;
Scarano, Gioacchino;
Seri, Marco

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

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Published in:

2022

By:

Gozzelino, Luca;
Kochlamazashvili, Gaga;
Baldassari, Sara;
Mackintosh, Albert Ian;
Licchetta, Laura;
Iovino, Emanuela;
Liu, Yu Chi;
Bennett, Caitlin A;
Bennett, Mark F;
Damiano, John A;
Zsurka, Gábor;
Marconi, Caterina;
Giangregorio, Tania;
Magini, Pamela;
Kuijpers, Marijn;
Maritzen, Tanja;
Norata, Giuseppe Danilo;
Baulac, Stéphanie;
Canafoglia, Laura;
Seri, Marco

Publication type:

journal article

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Published in:

2016

By:

Panza, Emanuele;
Escamilla-Honrubia, Juan M.;
Marco-Marín, Clara;
Gougeard, Nadine;
De Michele, Giuseppe;
Morra, Vincenzo Brescia;
Liguori, Rocco;
Salviati, Leonardo;
Donati, Maria Alice;
Cusano, Roberto;
Pippucci, Tommaso;
Ravazzolo, Roberto;
Németh, Andrea H.;
Smithson, Sarah;
Davies, Sally;
Hurst, Jane A.;
Bordo, Domenico;
Rubio, Vicente;
Seri, Marco;
Coutelier, Marie

Publication type:

Letter

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1643, doi. 10.1093/brain/awu069

By:

Moghadam, Keivan Kaveh;
Pizza, Fabio;
La Morgia, Chiara;
Franceschini, Christian;
Tonon, Caterina;
Lodi, Raffaele;
Barboni, Piero;
Seri, Marco;
Ferrari, Simona;
Liguori, Rocco;
Donadio, Vincenzo;
Parchi, Piero;
Cornelio, Ferdinando;
Inzitari, Domenico;
Mignarri, Andrea;
Capocchi, Giuseppe;
Dotti, Maria Teresa;
Winkelmann, Juliane;
Lin, Ling;
Mignot, Emmanuel

Publication type:

Article

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Published in:

2006

By:

Cagnoli C;
Mariotti C;
Taroni F;
Seri M;
Brussino A;
Michielotto C;
Grisoli M;
Di Bella D;
Migone N;
Gellera C;
Di Donato S;
Brusco A;
Cagnoli, Claudia;
Mariotti, Caterina;
Taroni, Franco;
Seri, Marco;
Brussino, Alessandro;
Michielotto, Chiara;
Grisoli, Marina;
Di Bella, Daniela

Publication type:

journal article

Glomerulocystic kidney disease in a family.

Published in:

Nephrology Dialysis Transplantation, 2002, v. 17, n. 5, p. 813, doi. 10.1093/ndt/17.5.813

By:

Gusmano, Rosanna;
Caridi, Gianluca;
Marini, Monica;
Perfumo, Francesco;
Ghiggeri, Gian Marco;
Piaggio, Giorgio;
Ceccherini, Isabella;
Seri, Marco

Publication type:

Article

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 319, doi. 10.1007/s00439-002-0880-6

By:

D'Adamo, Pio;
Pinna, Maura;
Capobianco, Saverio;
Cesarani, Antonio;
D'Eustacchio, Angela;
Fogu, Pina;
Carella, Massimo;
Seri, Marco;
Gasparini, Paolo

Publication type:

Article

Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6

By:

Gimelli, Giorgio;
Giglio, Sabrina;
Zuffardi, Orsetta;
Alhonen, Leena;
Suppola, Suvikki;
Cusano, Roberto;
Lo Nigro, Cristiana;
Gatti, Rosanna;
Ravazzolo, Roberto;
Seri, Marco

Publication type:

Article

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Published in:

Human Genetics, 2002, v. 110, n. 2, p. 182, doi. 10.1007/s00439-001-0659-1

By:

Seri, Marco;
Savino, Maria;
Bordo, Domenico;
Cusano, Roberto;
Rocca, Bianca;
Meloni, Ilaria;
Bari, Filomena;
Koivisto, Pasi A.;
Bolognesi, Martino;
Ghiggeri, Gian;
Landolfi, Raffaele;
Balduini, Carlo L.;
Zelante, Leopoldo;
Ravazzolo, Roberto;
Renieri, Alessandra;
Savoia, Anna

Publication type:

Article

Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration.

Published in:

Immunity, Inflammation & Disease, 2021, v. 9, n. 2, p. 583, doi. 10.1002/iid3.420

By:

Zama, Daniele;
Conti, Francesca;
Moratti, Mattia;
Cantarini, Maria E.;
Facchini, Elena;
Rivalta, Beatrice;
Rondelli, Roberto;
Prete, Arcangelo;
Ferrari, Simona;
Seri, Marco;
Pession, Andrea

Publication type:

Article

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 2, p. 127

By:

Renieri, Alessandra;
Seri, Marco;
Myers, Jeanne C.;
pihlajaniemi, Taina;
Massella, Laura;
Rizzoni, Gianfranco;
Marchi, Mario De

Publication type:

Article