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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Syndrome and KIAA0586[original query]
KIAA0586 is Mutated in Joubert Syndrome.
Human mutation 2015 Sep 36 (9): 831-5.
Bachmann-Gagescu Ruxandra, Phelps Ian G, Dempsey Jennifer C, Sharma Vivek A, Ishak Gisele E, Boyle Evan A, Wilson Meredith, Marques Lourenço Charles, Arslan Mutluay, , Shendure Jay, Doherty D
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan .
Vilboux Thierry, Doherty Daniel A, Glass Ian A, Parisi Melissa A, Phelps Ian G, Cullinane Andrew R, Zein Wadih, Brooks Brian P, Heller Theo, Soldatos Ariane, Oden Neal L, Yildirimli Deniz, Vemulapalli Meghana, Mullikin James C, Nisc Comparative Sequencing Program , Malicdan May Christine V, Gahl William A, Gunay-Aygun Mer
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet journal of rare diseases 2023 5 18 (1): 101.
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Journal of medical genetics 2023 2 .
Serpieri Valentina, Mortarini Giulia, Loucks Hailey, Biagini Tommaso, Micalizzi Alessia, Palmieri Ilaria, Dempsey Jennifer C, D'Abrusco Fulvio, Mazzotta Concetta, Battini Roberta, Bertini Enrico Silvio, Boltshauser Eugen, Borgatti Renato, Brockmann Knut, D'Arrigo Stefano, Nardocci Nardo, Fischetto Rita, Agolini Emanuele, Novelli Antonio, Romano Alfonso, Romaniello Romina, Stanzial Franco, Signorini Sabrina, Strisciuglio Pietro, Gana Simone, Mazza Tommaso, Doherty Dan, Valente Enza Mar
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
International journal of molecular sciences 2024 7 25 (14): .
Desirée Deconte, Bruna Lixinski Diniz, Jéssica K Hartmann, Mateus A de Souza, Laira F F Zottis, Paulo Ricardo Gazzola Zen, Rafael F M Rosa, Marilu Fiegenba
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
European journal of human genetics : EJHG 2024 10 .
Fulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, Jessica Garau, Luca Cattaneo, Monica Boggioni, Simone Gana, Roberta Battini, Enrico Bertini, Ginevra Zanni, Eugen Boltshauser, Renato Borgatti, Romina Romaniello, Sabrina Signorini, Vincenzo Leuzzi, Caterina Caputi, Filippo Manti, Stefano D'Arrigo, Arianna De Laurentiis, Claudio Graziano, Johannes R Lemke, Federica Morelli, Danijela Petkovi? Ramadža, Fabio Sirchia, Elisa Giorgio, Enza Maria Valen
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