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ArticlesPeer ReviewedFull Text
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Author / Creator:Gehin, Charlotte ; Lone, Museer A. ; Lee, Winston ; Capolupo, Laura ; Ho, Sylvia ; Adeyemi, Adekemi M. ; Gerkes, Erica H. ; Stegmann, Alexander P.A. ; López-Martín, Estrella ; Bermejo-Sánchez, Eva ; Martínez-Delgado, Beatriz ; Zweier, Christiane ; Kraus, Cornelia ; Popp, Bernt ; Strehlow, Vincent ; Gräfe, Daniel ; Knerr, Ina ; Jones, Eppie R. ; Zamuner, Stefano ; Abriata, Luciano A. ; Kunnathully, Vidya ; Moeller, Brandon E. ; Vocat, Anthony ; Rommelaere, Samuel ; Bocquete, Jean-Philippe ; Ruchti, Evelyne ; Limoni, Greta ; Van Campenhoudt, Marine ; Bourgeat, Samuel ; Henklein, Petra ; Gilissen, Christian ; van Bon, Bregje W. ; Pfundt, Rolph ; Willemsen, Marjolein H. ; Schieving, Jolanda H. ; Leonardi, Emanuela ; Soli, Fiorenza ; Murgia, Alessandra ; Guo, Hui ; Zhang, Qiumeng ; Xia, Kun ; Fagerberg, Christina R. ; Beier, Christoph P. ; Larsen, Martin J. ; Valenzuela, Irene ; Fernández-Álvarez, Paula ; Xiong, Shiyi ; Śmigiel, Robert ; López-González, Vanesa ; Armengol, Lluís ; Morleo, Manuela ; Selicorni, Angelo ; Torella, Annalaura ; Blyth, Moira ; Cooper, Nicola S. ; Wilson, Valerie ; Oegema, Renske ; Herenger, Yvan ; Garde, Aurore ; Bruel, Ange-Line ; Tran Mau-Them, Frederic ; Maddocks, Alexis B.R. ; Bain, Jennifer M. ; Bhat, Musadiq A. ; Costain, Gregory ; Kannu, Peter ; Marwaha, Ashish ; Champaigne, Neena L. ; Friez, Michael J. ; Richardson, Ellen B. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Gupta, Yask ; Lim, Tze Y. ; Sanna-Cherchi, Simone ; Lemaitre, Bruno ; Yamaji, Toshiyuki ; Hanada, Kentaro ; Burke, John E. ; Jakšić, Ana Marjia ; McCabe, Brian D. ; De Los Rios, Paolo ; Hornemann, Thorsten ; D’Angelo, Giovanni ; Gennarino, Vincenzo A.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16
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ArticlesPeer ReviewedFull Text
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
Author / Creator:Rossi, Elena ; Giorda, Roberto ; Bonaglia, Maria Clara ; Candia, Stefania Di ; Grechi, Elena ; Franzese, Adriana ; Soli, Fiorenza ; Rivieri, Francesca ; Patricelli, Maria Grazia ; Saccilotto, Donatella ; Bonfante, Aldo ; Giglio, Sabrina ; Beri, Silvana ; Rocchi, Mariano ; Zuffardi, Orsetta
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-06, Vol.7 (6), p.e39180
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ArticlesPeer ReviewedFull Text
Newborn with cleidocranial dysplasia
Author / Creator:Franceschi, Roberto ; Stringari, Giovanna ; Soli, Fiorenza ; Pedrolli, Annalisa ; Maines, Evelina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Skeletal radiology, 2022-12, Vol.51 (12), p.2351-2352
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ArticlesPeer ReviewedFull Text
Newborn with abnormality of the clavicle
Author / Creator:Franceschi, Roberto ; Stringari, Giovanna ; Soli, Fiorenza ; Pedrolli, Annalisa ; Maines, Evelina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Skeletal radiology, 2022-12, Vol.51 (12), p.2321-2322
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ArticlesPeer ReviewedFull Text
Prenatal Diagnosis of a Case of Severe DGUOK Deficiency Did Not Affect the Postnatal Outcomes
Author / Creator:Maines, Evelina ; Rizzardi, Caterina ; Bolognani, Marco ; Soli, Fiorenza ; Piccoli, Giovanni ; Soffiati, Massimo ; Franceschi, Roberto
Publisher:Sugar Land: Xia & He Publishing
Journal title:Gene expression, 2024-07, Vol.23 (2), p.153-155
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ArticlesPeer ReviewedFull Text
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
Author / Creator:Tannorella, Pierpaola ; Calzari, Luciano ; Daolio, Cecilia ; Mainini, Ester ; Vimercati, Alessandro ; Gentilini, Davide ; Soli, Fiorenza ; Pedrolli, Annalisa ; Bonati, Maria Teresa ; Larizza, Lidia ; Russo, Silvia
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2022-03, Vol.14 (1), p.43-43, Article 43
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ArticlesPeer ReviewedFull Text
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
Author / Creator:Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara ; Guida, Valentina ; Consoli, Federica ; Torrente, Isabella ; Onori, Annamaria ; Frustaci, Emanuela ; D’Asdia, Maria Cecilia ; Petrizzelli, Francesco ; Bernardini, Laura ; Mancini, Cecilia ; Soli, Fiorenza ; Cocciadiferro, Dario ; Guadagnolo, Daniele ; Mastromoro, Gioia ; Putotto, Carolina ; Fontana, Franco ; Brunetti-Pierri, Nicola ; Novelli, Antonio ; Pizzuti, Antonio ; Marino, Bruno ; Digilio, Maria Cristina ; Mazza, Tommaso ; Dallapiccola, Bruno ; Ruiz-Perez, Victor Luis ; Tartaglia, Marco ; Castori, Marco ; De Luca, Alessandro
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.479-484
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ArticlesPeer ReviewedFull Text
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management
Author / Creator:Innella, Giovanni ; Fortuno, Cristina ; Caleca, Laura ; Feng, Bing‐Jian ; Carroll, Courtney ; Parsons, Michael T. ; Miccoli, Sara ; Montagna, Marco ; Calistri, Daniele ; Cortesi, Laura ; Pasini, Barbara ; Manoukian, Siranoush ; Giachino, Daniela ; Matricardi, Laura ; Foti, Maria Cristina ; Zampiga, Valentina ; Piombino, Claudia ; Barbieri, Elena ; Lutati, Francesca Vignolo ; Azzolini, Jacopo ; Danesi, Rita ; Arcangeli, Valentina ; Caputo, Sandrine M. ; Boutry‐Kryza, Nadia ; Goussot, Vincent ; Hiraki, Susan ; Richardson, Marcy ; Boni, Stefania ; Gusella, Milena ; Tognazzo, Silvia ; Mammi, Isabella ; Benedicenti, Francesco ; Turolla, Licia ; Soli, Fiorenza ; Ferrari, Simona ; Radice, Paolo ; Spurdle, Amanda B. ; Turchetti, Daniela
Publisher:United States: John Wiley & Sons, Inc
Journal title:Cancer medicine (Malden, MA), 2024-08, Vol.13 (16), p.e70114-n/a
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ArticlesPeer ReviewedFull Text
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup
Author / Creator:Rossi, Elena ; Giorda, Roberto ; Bonaglia, Maria Clara ; Candia, Stefania Di ; Grechi, Elena ; Franzese, Adriana ; Soli, Fiorenza ; Rivieri, Francesca ; Patricelli, Maria Grazia ; Saccilotto, Donatella ; Bonfante, Aldo ; Giglio, Sabrina ; Beri, Silvana ; Rocchi, Mariano ; Zuffardi, Orsetta
Publisher:Public Library of Science
Journal title:PloS one, 2012-06, Vol.7 (6), p.e39180
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ArticlesPeer ReviewedFull Text
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dups
Author / Creator:Rossi, Elena ; Giorda, Roberto ; Bonaglia, Maria Clara ; Candia, Stefania Di ; Grechi, Elena ; Franzese, Adriana ; Soli, Fiorenza ; Rivieri, Francesca ; Patricelli, Maria Grazia ; Saccilotto, Donatella ; Bonfante, Aldo ; Giglio, Sabrina ; Beri, Silvana ; Rocchi, Mariano ; Zuffardi, Orsetta
Publisher:Public Library of Science
Journal title:PloS one, 2012-06, Vol.7 (6), p.e39180
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ArticlesFull Text
Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
Author / Creator:Aspromonte, Maria Cristina ; Bellini, Mariagrazia ; Gasparini, Alessandra ; Carraro, Marco ; Bettella, Elisa ; Polli, Roberta ; Cesca, Federica ; Bigoni, Stefania ; Boni, Stefania ; Carlet, Ombretta ; Negrin, Susanna ; Mammi, Isabella ; Milani, Donatella ; Peron, Angela ; Sartori, Stefano ; Toldo, Irene ; Soli, Fiorenza ; Turolla, Licia ; Stanzial, Franco ; Benedicenti, Francesco ; Marino-Buslje, Cristina ; Tosatto, Silvio C E ; Murgia, Alessandra ; Leonardi, Emanuela
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-02
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

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De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

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Newborn with cleidocranial dysplasia

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Newborn with abnormality of the clavicle

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Prenatal Diagnosis of a Case of Severe DGUOK Deficiency Did Not Affect the Postnatal Outcomes

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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

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De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup

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De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dups

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Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing

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