Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: Ectopia Lentis and FBN1[original query] |
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Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Archives of internal medicine 2001 Nov 161 (20): 2447-54. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe |
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clinical genetics 2008 Jul 74 (1): 39-46. Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani Mc, Fattori R, Anichini C, Abbate R, Gensini Gf, Pepe |
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. European journal of human genetics : EJHG 2009 Apr 17 (4): 491-501. Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys B L, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf J E, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson P N, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau |
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. American journal of medical genetics. Part A 2009 May 149A (5): 854-60. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys B L, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf J E, Robinson P N, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Clinical genetics 2010 Feb 77 (2): 177-82. Yoo E-H, Woo H, Ki C-S, Lee H J, Kim D-K, Kang I-S, Park P, Sung K, Lee C S, Chung T-Y, Moon J R, Han H, Lee S-T, Kim J |
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. American journal of medical genetics. Part A 2009 Feb 149A (2): 161-70. Turner C L S, Emery H, Collins A L, Howarth R J, Yearwood C M, Cross E, Duncan P J, Bunyan D J, Harvey J F, Foulds N |
Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations. Journal of Korean medical science 2015 Sep 30 (9): 1260-5. Chun Kwang Jin, Yang Jeong Hoon, Jang Shin Yi, Lee Seung Hwa, Gwag Hye Bin, Chung Tae-Young, Huh June, Ki Chang-Seok, Sung Kiick, Choi Seung-Hyuk, Kim Sung Mok, Choe Yeon Hyeon, Kim Duk-Kyu |
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Human molecular genetics 2015 May 24 (10): 2764-70. Aubart Mélodie, Gross Marie-Sylvie, Hanna Nadine, Zabot Marie-Thérèse, Sznajder Marc, Detaint Delphine, Gouya Laurent, Jondeau Guillaume, Boileau Catherine, Stheneur Chant |
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. American journal of medical genetics. Part A 2016 Apr . Somers Allyson E, Hinton Robert B, Pilipenko Valentina, Miller Erin, Ware Stephanie |
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2016 Apr 51 (2): 113-8. Latasiewicz Marta, Fontecilla Christian, Millá Elena, Sánchez Auro |
Two rare missense mutations in the fibrillin?1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome. Molecular medicine reports 2018 5 18 (1): 877-881. Zhang Miao, Zhou Yaqi, Peng Yang, Jin Lij |
Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS. Gene 2018 12 689 51-55. Cao Danmin, Xu Zequan, Gu Shuyan, Li Kai, Bao Xianyi, Zhou Yanli, Yin Dan, Chen Jianjun, Wang Yo |
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease. Science China. Life sciences 2019 5 62 (12): 1630-1637. Li Jiacheng, Lu Chaoxia, Wu Wei, Liu Yaping, Wang Rongrong, Si Nuo, Meng Xiaolu, Zhang Shuyang, Zhang X |
Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome. Genes 2019 2 10 (2): . Benarroch Louise, Aubart Mélodie, Gross Marie-Sylvie, Arnaud Pauline, Hanna Nadine, Jondeau Guillaume, Boileau Catheri |
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care. Genes 2020 7 11 (7): . Stark Veronika C, Hensen Flemming, Kutsche Kerstin, Kortüm Fanny, Olfe Jakob, Wiegand Peter, von Kodolitsch Yskert, Kozlik-Feldmann Rainer, Müller Götz C, Mir Thomas |
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome. Clinical genetics 2020 Nov . Hernándiz Amparo, Zúñiga Angel, Valera Francisco, Domingo Diana, Ontoria-Oviedo Imelda, Marí Jose F, Román Jose A, Calvo Inmaculada, Insa Beatriz, Gómez Rosa, Cervera José V, Miralles Manuel, Montero Jose A, Martínez-Dolz Luis, Sepúlveda Pil |
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis. The British journal of ophthalmology 2021 7 106 (12): 1655-1661. Chen Zexu, Chen Tianhui, Zhang Min, Chen Jiahui, Deng Michael, Zheng Jialei, Lan Li-Na, Jiang Yongxia |
Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients. Experimental eye research 2021 4 207 108570. Guo Dongwei, Jin Guangming, Zhou Yijing, Zhang Xinyu, Cao Qianzhong, Lian Zhangkai, Guo Yibin, Zheng Danyi |
Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3 23 (7): 1296-1304. Arnaud Pauline, Milleron Olivier, Hanna Nadine, Ropers Jacques, Ould Ouali Nadia, Affoune Amel, Langeois Maud, Eliahou Ludivine, Arnoult Florence, Renard Philippe, Michelon-Jouneaux Marlène, Cotillon Marie, Gouya Laurent, Boileau Catherine, Jondeau Guillau |
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis. Molecular medicine reports 2021 2 23 (4): . Zhou Yijing, Guo Dongwei, Cao Qianzhong, Zhang Xinyu, Jin Guangming, Zheng Danyi |
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients. American journal of ophthalmology 2021 Nov . Chen Tian-Hui, Chen Ze-Xu, Zhang Min, Chen Jia-Hui, Deng Michael, Zheng Jia-Lei, Lan Li-Na, Jiang Yong-Xia |
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis. International ophthalmology 2022 5 42 (7): 2245-2253. Qi Meng, Wang Chong, Liu Yi, Shi Xiangyu, Rong WeiNi |
Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis. Frontiers in cell and developmental biology 2022 3 9 816397. Zhang Min, Chen Zexu, Chen Tianhui, Sun Xiaodong, Jiang Yongxia |
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (5): 1045-1053. Meester Josephina A N, Peeters Silke, Van Den Heuvel Lotte, Vandeweyer Geert, Fransen Erik, Cappella Elizabeth, Dietz Harry C, Forbus Geoffrey, Gelb Bruce D, Goldmuntz Elizabeth, Hoskoppal Arvind, Landstrom Andrew P, Lee Teresa, Mital Seema, Morris Shaine, Olson Aaron K, Renard Marjolijn, Roden Dan M, Singh Michael N, Selamet Tierney Elif Seda, Tretter Justin T, Van Driest Sara L, Willing Marcia, Verstraeten Aline, Van Laer Lut, Lacro Ronald V, Loeys Bart |
Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 7 . Dongwei Guo, Liyan Liu, Kit Yee Ng, Qianzhong Cao, Danying Zheng, Xinyu Zhang, Guangming J |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
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- Page last updated:Apr 29, 2024
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