Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 32 Records) |
| Query Trace: Joubert Syndrome[original query] |
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| Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human molecular genetics 2008 Dec 17 (24): 3887-96. Alvarez Retuerto Ana I, Cantor Rita M, Gleeson Joseph G, Ustaszewska Anna, Schackwitz Wendy S, Pennacchio Len A, Geschwind Daniel |
| RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical genetics 2008 Aug 74 (2): 164-70. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy J L, Barrano G, Bertini E, Emma F, Rigoli L, , Dallapiccola B, Gleeson J G, Valente E |
| Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010 Aug 24 (8): 3066-82. Torri Federica, Akelai Anna, Lupoli Sara, Sironi Manuela, Amann-Zalcenstein Daniela, Fumagalli Matteo, Dal Fiume Chiara, Ben-Asher Edna, Kanyas Kyra, Cagliani Rachele, Cozzi Paolo, Trombetti Gabriele, Strik Lievers Luisa, Salvi Erika, Orro Alessandro, Beckmann Jacques S, Lancet Doron, Kohn Yoav, Milanesi Luciano, Ebstein Richard B, Lerer Bernard, Macciardi Fab |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
| Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of medical genetics 2012 Feb 49 (2): 126-37. Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D |
| 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 |
| Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
| Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug . Phelps Ian G, Dempsey Jennifer C, Grout Megan E, Isabella Christine R, Tully Hannah M, Doherty Dan, Bachmann-Gagescu Ruxand |
| Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. Journal of pediatric gastroenterology and nutrition 2017 11 66 (3): 428-435. Strongin Anna, Heller Theo, Doherty Dan, Glass Ian A, Parisi Melissa A, Bryant Joy, Choyke Peter, Turkbey Baris, Daryanani Kailash, Yildirimli Deniz, Vemulapalli Meghana, Mullikin Jim C, Malicdan May C, Vilboux Thierry, Gahl William A, Gunay-Aygun Meral, |
| 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 |
| Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed research international 2018 12 2018 4032543. Linpeng Siyuan, Liu Jing, Pan Jianyan, Cao Yingxi, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
| Missense variants in TMEM67 in a patient with Joubert syndrome. Clinical case reports 2018 11 6 (11): 2189-2192. Huynh Julie M, Galindo Maureen, Laukaitis Christina |
| Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects. BMC medical genomics 2018 Jan 11 (1): 4. Seo Heewon, Kwon Eun Jin, You Young-Ah, Park Yoomi, Min Byung Joo, Yoo Kyunghun, Hwang Han-Sung, Kim Ju Han, Kim Young |
| Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
| Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Molecular vision 2020 3 26 26-35. Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji |
| Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. Journal of medical genetics 2020 12 59 (2): 147-154. Tang Xiaoshan, Liu Cuihua, Liu Xiaorong, Chen Jing, Fan Xiaoyan, Liu Jialu, Ma Duan, Cao Guanghai, Chen Zhi, Xu Daliang, Zhu Ying, Jiang Xiaoyun, Cheng Lizhi, Wu Yubing, Hou Ling, Li Yuhong, Shao Xiaoshan, Zheng Shasha, Zhang Aihua, Zheng Bixia, Jian Shan, Rong Zanhua, Su Qingxiao, Gao Xia, Rao Jia, Shen Qian, Xu Hong, , |
| Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. Molecular biology reports 2021 6 48 (6): 5339-5345. Karamzade Arezou, Babaei Meisam, Saberi Mohammad, Golchin Neda, Khalil Nejad Sani Banaei Aysun, Eshaghkhani Yeganeh, Golchehre Zahra, Keramatipour Mohamm |
| Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ genomic medicine 2021 6 6 (1): 53. Sangermano Riccardo, Deitch Iris, Peter Virginie G, Ba-Abbad Rola, Place Emily M, Zampaglione Erin, Wagner Naomi E, Fulton Anne B, Coutinho-Santos Luisa, Rosin Boris, Dunet Vincent, AlTalbishi Ala'a, Banin Eyal, Sousa Ana Berta, Neves Mariana, Larson Anna, Quinodoz Mathieu, Michaelides Michel, Ben-Yosef Tamar, Pierce Eric A, Rivolta Carlo, Webster Andrew R, Arno Gavin, Sharon Dror, Huckfeldt Rachel M, Bujakowska Kinga |
| INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons. Journal of cell science 2021 (5): . Ukhanov Kirill, Uytingco Cedric, Green Warren, Zhang Lian, Schurmans Stephane, Martens Jeffrey |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
| Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology 2022 12 248 96-106. Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifa |
| New insights into CC2D2A-related Joubert syndrome. Journal of medical genetics 2022 11 . Harion Madeleine, Qebibo Leila, Riquet Audrey, Rougeot Christelle, Afenjar Alexandra, Garel Catherine, Louha Malek, Lacaze Emmanuelle, Audic-Gérard Frédérique, Barth Magali, Berquin Patrick, Bonneau Dominique, Bourdain Frédéric, Busa Tiffany, Colin Estelle, Cuisset Jean-Marie, Des Portes Vincent, Dorison Nathalie, Francannet Christine, Héron Bénédicte, Laroche Cécile, Lebrun Marine, Métreau Julia, Odent Sylvie, Pasquier Laurent, Trujillo Yaumara Perdomo, Perrin Laurine, Pinson Lucile, Rivier François, Sigaudy Sabine, Thauvin-Robinet Christel, Louvier Ulrike Walther, Labayle Olivier, Rodriguez Diana, Valence Stéphanie, Burglen Lyd |
| Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome. Kidney international reports 2023 8 8 (8): 1562-1574. Mallory L Downie, Sanjana Gupta, Catalin Voinescu, Adam P Levine, Omid Sadeghi-Alavijeh, Stephanie Dufek-Kamperis, Jingjing Cao, Martin Christian, Jameela A Kari, Shenal Thalgahagoda, Randula Ranawaka, Asiri Abeyagunawardena, Rasheed Gbadegesin, Rulan Parekh, Robert Kleta, Detlef Bockenhauer, Horia C Stanescu, Daniel P Ga |
| 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 |
| Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology. Annals of human genetics 2023 11 . Joshua W Owens, Robert J Hopkin, Lisa J Martin, Andrew Kodani, Brittany N Simps |
| Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report. Clinical genetics 2023 1 103 (4): 448-452. Martínez-Granero Francisco, Martínez-Cayuelas Elena, Rodilla Cristina, Núñez-Moreno Gonzalo, Rodríguez de Alba Marta, Blanco-Kelly Fiona, Romero Raquel, Minguez Pablo, Ayuso Carmen, Lorda-Sanchez Isabel, Corton Marta, Almoguera Ber |
| 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 |
| Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease. Clinical genetics 2024 12 . Pelin Ercoskun, Aydeniz Aydin Gumus, Ezgi Gokpinar Ili, Lale Yilmaz Celik, Mustafa Dogan, Sevgi Yavuz, Gursel Yildiz, Alper Gezdiri |
| 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 |
- Page last reviewed:Feb 1, 2024
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