Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 38 Records) |
| Query Trace: Bardet-biedl Syndrome 4[original query] |
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| BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Nov 130 (11): 1425-32. Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jero |
| Carrier frequency of two BBS2 mutations in the Ashkenazi population. Clinical genetics 2014 Jun 85 (6): 578-82. Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff N |
| Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. Obesity (Silver Spring, Md.) 2013 Aug 21 (8): 1684-9. Birk Ruth Z, Ermakov Sergey, Livshits Grego |
| Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. Clinical genetics 2015 Apr 87 (4): 343-9. Forsythe E, Sparks K, Hoskins B E, Bagkeris E, McGowan B M, Carroll P V, Huda M S B, Mujahid S, Peters C, Barrett T, Mohammed S, Beales P |
| A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. American journal of human genetics 2014 Nov 95 (5): 509-20. Lim Elaine T, Liu Yangfan P, Chan Yingleong, Tiinamaija Tuomi, Käräjämäki AnnMari, Madsen Erik, , Altshuler David M, Raychaudhuri Soumya, Groop Leif, Flannick Jason, Hirschhorn Joel N, Katsanis Nicholas, Daly Mark |
| Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
| Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India. Journal of clinical research in pediatric endocrinology 2017 12 10 (3): 274-278. Dayal Devi, Seetharaman Keerthivasan, Panigrahi Inusha, Muthuvel Balasubramaniyan, Agarwal Ashi |
| Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. Journal of medical genetics 2017 11 55 (3): 189-197. Y?ld?z Bölükba?? Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Asl?h |
| Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. Italian journal of pediatrics 2019 6 45 (1): 72. Manara Elena, Paolacci Stefano, D'Esposito Fabiana, Abeshi Andi, Ziccardi Lucia, Falsini Benedetto, Colombo Leonardo, Iarossi Giancarlo, Pilotta Alba, Boccone Loredana, Guerri Giulia, Monica Marica, Marta Balzarini, Maltese Paolo Enrico, Buzzonetti Luca, Rossetti Luca, Bertelli Matt |
| Novel variants in women with premature ovarian function decline identified via whole-exome sequencing. Journal of assisted reproduction and genetics 2020 8 37 (10): 2487-2502. Tang Ruiyi, Yu |
| Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of human genetics 2020 7 85 (1): 27-36. Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer |
| High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical genetics 2020 5 98 (2): 166-171. Gouronc Aurélie, Zilliox Vincent, Jacquemont Marie-Line, Darcel Françoise, Leuvrey Anne-Sophie, Nourisson Elsa, Antin Manuela, Alessandri Jean-Luc, Doray Bérénice, Gueguen Paul, Payet Frédérique, Randrianaivo Hanitra, Stoetzel Corinne, Scheidecker Sophie, Flodrops Hugues, Dollfus Hélène, Muller Je |
| 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, , |
| A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. Clinical genetics 2020 Nov . Delvallée Clarisse, Nicaise Samuel, Antin Manuela, Leuvrey Anne-Sophie, Nourisson Elsa, Leitch Carmen C, Kellaris Georgios, Stoetzel Corinne, Geoffroy Véronique, Scheidecker Sophie, Keren Boris, Depienne Christel, Klar Joakim, Dahl Niklas, Deleuze Jean-François, Génin Emmanuelle, Redon Richard, Demurger Florence, Devriendt Koenraad, Mathieu-Dramard Michèle, Poitou-Bernert Christine, Odent Sylvie, Katsanis Nicholas, Mandel Jean-Louis, Davis Erica E, Dollfus Hélène, Muller Je |
| Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature genetics 2020 Oct . Kousi Maria, Söylemez Onuralp, Ozanturk Aysegül, Mourtzi Niki, Akle Sebastian, Jungreis Irwin, Muller Jean, Cassa Christopher A, Brand Harrison, Mokry Jill Anne, Wolf Maxim Y, Sadeghpour Azita, McFadden Kelsey, Lewis Richard A, Talkowski Michael E, Dollfus Hélène, Kellis Manolis, Davis Erica E, Sunyaev Shamil R, Katsanis Nichol |
| A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico. Clinical ophthalmology (Auckland, N.Z.) 2021 15 3757-3764. Guardiola Gabriel A, Ramos Fabiola, Izquierdo Natalio J, Oliver Armando |
Genetic predisposition to tinnitus in the UK Biobank population.
Scientific reports 2021 Sep 11 (1): 18150. Urbanek Madeleine E, Zuo Ji |
| Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients. Clinical kidney journal 2021 6 14 (6): 1545-1551. Zacchia Miriam, Blanco Francesca Del Vecchio, Torella Annalaura, Raucci Raffaele, Blasio Giancarlo, Onore Maria Elena, Marchese Emanuela, Trepiccione Francesco, Vitagliano Caterina, Iorio Valentina Di, Alessandra Perna, Simonelli Francesca, Nigro Vincenzo, Capasso Giovambattista, Viggiano Davi |
| Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. Journal of nephrology 2021 5 34 (6): 1855-1874. Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattis |
| Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians. Obesity (Silver Spring, Md.) 2021 2 29 (4): 748-754. Day Samantha E, Muller Yunhua L, Koroglu Cigdem, Kobes Sayuko, Wiedrich Kim, Mahkee Darin, Kim Hye In, Van Hout Cris, Gosalia Nehal, Ye Bin, , Shuldiner Alan R, Knowler William C, Hanson Robert L, Bogardus Clifton, Baier Leslie |
| Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome. NPJ genomic medicine 2022 7 7 (1): 41. Perea-Romero Irene, Solarat Carlos, Blanco-Kelly Fiona, Sanchez-Navarro Iker, Bea-Mascato Brais, Martin-Salazar Eduardo, Lorda-Sanchez Isabel, Swafiri Saoud Tahsin, Avila-Fernandez Almudena, Martin-Merida Inmaculada, Trujillo-Tiebas Maria Jose, Carreño Ester, Jimenez-Rolando Belen, Garcia-Sandoval Blanca, Minguez Pablo, Corton Marta, Valverde Diana, Ayuso Carm |
| [Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Jul 39 (7): 754-758. Li Hao, Hu Zhangx |
| Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program. International journal of obesity (2005) 2022 5 46 (8): 1493-1501. Roberts Karyn J, Ariza Adolfo J, Selvaraj Kavitha, Quadri Maheen, Mangarelli Caren, Neault Sarah, Davis Erica E, Binns Helen |
| Kidney failure in Bardet-Biedl syndrome. Clinical genetics 2022 2 101 (4): 429-441. Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert |
| 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 |
| High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
| Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Journal of clinical medicine 2022 12 11 (24): . Bonetti Gabriele, Dhuli Kristjana, Ceccarini Maria Rachele, Kaftalli Jurgen, Samaja Michele, Precone Vincenza, Cecchin Stefano, Maltese Paolo Enrico, Guerri Giulia, Marceddu Giuseppe, Beccari Tommaso, Aquilanti Barbara, Velluti Valeria, Matera Giuseppina, Perrone Marco, Iaconelli Amerigo, Colombo Francesca, Greco Francesco, Raffaelli Marco, Ergoren Mahmut Cerkez, Bertelli Matt |
| Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence. Ophthalmic genetics 2022 11 43 (6): 834-840. Russell Matthew W, Muste Justin C, Seth Kanika, Kumar Madhukar, Rich Collin A, Singh Rishi P, Traboulsi Elias |
| A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
| Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. American journal of medical genetics. Part A 2023 6 . Sheraz Khan, Ina Ofelia Foc?a, Magdalena Budi?teanu, Cristina Stoica, Florina Nedelea, Lauren?iu Bohîl?ea, Lavinia Caba, L?cr?mioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurc?, Adela Chirita-Emandi, Claudia B?nescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela B?lgr?dean, Erica E Dav |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 25, 2023
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