Joubert Syndrome and related disorders
Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Published in Orphanet journal of rare diseases (08.07.2010)
Published in Orphanet journal of rare diseases (08.07.2010)
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Formation of new chromatin domains determines pathogenicity of genomic duplications
Franke, Martin, Ibrahim, Daniel M., Andrey, Guillaume, Schwarzer, Wibke, Heinrich, Verena, Schöpflin, Robert, Kraft, Katerina, Kempfer, Rieke, Jerković, Ivana, Chan, Wing-Lee, Spielmann, Malte, Timmermann, Bernd, Wittler, Lars, Kurth, Ingo, Cambiaso, Paola, Zuffardi, Orsetta, Houge, Gunnar, Lambie, Lindsay, Brancati, Francesco, Pombo, Ana, Vingron, Martin, Spitz, Francois, Mundlos, Stefan
Published in Nature (London) (13.10.2016)
Published in Nature (London) (13.10.2016)
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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Published in Cell (21.05.2015)
Published in Cell (21.05.2015)
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Tassoni e la letteratura burlesca del Cinquecento
Brancati, Francesco
Published in AOQU : Achilles Orlando Quixote Ulysses revista di epica (31.12.2022)
Published in AOQU : Achilles Orlando Quixote Ulysses revista di epica (31.12.2022)
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Premessa
Brancati, Francesco, Cabani, Maria Cristina
Published in AOQU : Achilles Orlando Quixote Ulysses revista di epica (31.12.2022)
Published in AOQU : Achilles Orlando Quixote Ulysses revista di epica (31.12.2022)
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An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster
Bottillo, Irene, D'Alessandro, Andrea, Ciccone, Maria Pia, Cestra, Gianluca, Di Giacomo, Gianluca, Silvestri, Evelina, Castori, Marco, Brancati, Francesco, Lenzi, Andrea, Paiardini, Alessandro, Majore, Silvia, Cenci, Giovanni, Grammatico, Paola
Published in Journal of cellular physiology (25.09.2024)
Published in Journal of cellular physiology (25.09.2024)
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Journal Article
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
Fortugno, Paola, Angelucci, Francesco, Cestra, Gianluca, Camerota, Letizia, Ferraro, Angelo Salvatore, Cordisco, Sonia, Uccioli, Luigi, Castiglia, Daniele, Angelis, Barbara, Kurth, Ingo, Kornak, Uwe, Brancati, Francesco
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G
Published in Nature genetics (01.02.2012)
Published in Nature genetics (01.02.2012)
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Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset
Rossetti, Raffaella, Moleri, Silvia, Guizzardi, Fabiana, Gentilini, Davide, Libera, Laura, Marozzi, Anna, Moretti, Costanzo, Brancati, Francesco, Bonomi, Marco, Persani, Luca
Published in Frontiers in endocrinology (Lausanne) (04.11.2021)
Published in Frontiers in endocrinology (Lausanne) (04.11.2021)
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Journal Article
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
Guida, Valentina, Calzari, Luciano, Fadda, Maria Teresa, Piceci-Sparascio, Francesca, Digilio, Maria Cristina, Bernardini, Laura, Brancati, Francesco, Mattina, Teresa, Melis, Daniela, Forzano, Francesca, Briuglia, Silvana, Mazza, Tommaso, Bianca, Sebastiano, Valente, Enza Maria, Salehi, Leila Bagherjad, Prontera, Paolo, Pagnoni, Mario, Tenconi, Romano, Dallapiccola, Bruno, Iannetti, Giorgio, Corsaro, Luigi, De Luca, Alessandro, Gentilini, Davide
Published in International journal of molecular sciences (26.01.2021)
Published in International journal of molecular sciences (26.01.2021)
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Journal Article
Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Valente, Enza Maria, Gleeson, Joseph G, Silhavy, Jennifer L, Brancati, Francesco, Barrano, Giuseppe, Krishnaswami, Suguna Rani, Castori, Marco, Lancaster, Madeline A, Boltshauser, Eugen, Boccone, Loredana, Al-Gazali, Lihadh, Fazzi, Elisa, Signorini, Sabrina, Louie, Carrie M, Bellacchio, Emanuele, Related Disorders Study Group, International Joubert Syndrome, Bertini, Enrico, Dallapiccola, Bruno
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis
Laksono, Brigitta M, Fortugno, Paola, Nijmeijer, Bernadien M, de Vries, Rory D, Cordisco, Sonia, Kuiken, Thijs, Geijtenbeek, Teunis B H, Duprex, W Paul, Brancati, Francesco, de Swart, Rik L
Published in PLoS pathogens (08.10.2020)
Published in PLoS pathogens (08.10.2020)
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Journal Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry
Cesareo, Massimo, Ciuffoletti, Elena, Martucci, Alessio, Sebastiani, Jacopo, Sorge, Roberto Pietro, Lamantea, Eleonora, Garavaglia, Barbara, Ricci, Federico, Cusumano, Andrea, Nucci, Carlo, Brancati, Francesco
Published in PloS one (30.03.2017)
Published in PloS one (30.03.2017)
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Daly, Adrian F, Dunnington, Leslie A, Rodriguez-Buritica, David F, Spiegel, Erica, Brancati, Francesco, Mantovani, Giovanna, Rawal, Vandana M, Faucz, Fabio Rueda, Hijazi, Hadia, Caberg, Jean-Hubert, Nardone, Anna Maria, Bengala, Mario, Fortugno, Paola, Del Sindaco, Giulia, Ragonese, Marta, Gould, Helen, Cannavò, Salvatore, Pétrossians, Patrick, Lania, Andrea, Lupski, James R, Beckers, Albert, Stratakis, Constantine A, Levy, Brynn, Trivellin, Giampaolo, Franke, Martin
Published in Genome medicine (13.09.2024)
Published in Genome medicine (13.09.2024)
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