Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 103 Records) |
Query Trace: Marfan Syndrome[original query] |
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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis. PloS one 2019 9 14 (9): e0222506. Gentilini Davide, Oliveri Antonino, Fazia Teresa, Pini Alessandro, Marelli Susan, Bernardinelli Luisa, Di Blasio Anna Mar |
Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations. International journal of cardiology 2019 7 293 186-191. Gao Linggen, Tian Tao, Zhou Xianliang, Fan Li, Wang Rong, Wu Haiyi |
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. The Journal of pediatrics 2020 6 222 213-220.e5. Van Driest Sara L, Sleeper Lynn A, Gelb Bruce D, Morris Shaine A, Dietz Harry C, Forbus Geoffrey A, Goldmuntz Elizabeth, Hoskoppal Arvind, James Jeanne, Lee Teresa M, Levine Jami C, Li Jennifer S, Loeys Bart L, Markham Larry W, Meester Josephina A N, Mital Seema, Mosley Jonathan D, Olson Aaron K, Renard Marjolijn, Shaffer Christian M, Sharkey Angela, Young Luciana, Lacro Ronald V, Roden Dan |
[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2020 11 40 (11): 1607-1614. Yu Changjiang, Li Ying, Adilijang Abuduresuli, Yan Jizhong, Guzalnur Arkin, Abudushalamu Abudula, Aimirela Yimamu, Fan Ruix |
A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS genetics 2020 Nov 16 (11): e1008802. Tcheandjieu Catherine, Aguirre Matthew, Gustafsson Stefan, Saha Priyanka, Potiny Praneetha, Haendel Melissa, Ingelsson Erik, Rivas Manuel A, Priest James |
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 |
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. Orphanet journal of rare diseases 2020 Oct 15 (1): 290. Stengl Roland, Bors András, Ágg Bence, Pólos Miklós, Matyas Gabor, Molnár Mária Judit, Fekete Bálint, Csabán Dóra, Andrikovics Hajnalka, Merkely Béla, Radovits Tamás, Szabolcs Zoltán, Benke Kálm |
Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort.
PloS one 2021 9 16 (9): e0247287. Ashvetiya Tamara, Fan Sherry X, Chen Yi-Ju, Williams Charles H, O'Connell Jeffery R, Perry James A, Hong Charles |
Connective tissue disease type mediates branch patency of grafts in open thoracoabdominal aortic reconstruction. Journal of vascular surgery 2021 6 75 (1): 90-98. Sorber Rebecca, Bowen Caitlin J, Hicks Caitlin W, Black James |
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 |
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations. Frontiers in molecular biosciences 2021 12 8 749842. Chen Songchang, Fei Hongjun, Zhang Junyun, Chen Yiyao, Huang Hefeng, Lu Daru, Xu Chenmi |
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome. Journal of medical genetics 2021 12 60 (1): 74-80. Taniguchi Yuki, Takeda Norifumi, Inuzuka Ryo, Matsubayashi Yoshitaka, Kato So, Doi Toru, Yagi Hiroki, Yamauchi Haruo, Ando Masahiko, Oshima Yasushi, Tanaka Sak |
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 |
Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination. Neurospine 2021 1 17 (4): 843-856. Chauhan Avnish K, Chandra P Sarat, Goyal Nishant, Chowdhury Madhumita R, Banerjee Jyotirmoy, Tripathi Manjari, Kabra Madhuli |
[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome]. Zhonghua yi xue za zhi 2022 9 102 (34): 2702-2706. Zheng Q, Li K L, Dai G L, Xiong D, Yao M Y, Chen X, Li Y M, Zhang Y Y, Li H R, Cao |
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 |
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships. American journal of medical genetics. Part A 2022 11 191 (2): 479-489. Lauffer Peter, Pals Gerard, Zwinderman Aeilko H, Postema Floor A M, Baars Marieke J H, Dulfer Eelco, Hilhorst-Hofstee Yvonne, Houweling Arjan C, Kempers Marlies, Krapels Ingrid P C, van de Laar Ingrid M B H, Loeys Bart, Spaans Alexander M J, Warnink-Kavelaars Jessica, de Waard Vivian, Wit Jan M, Menke Leonie |
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility. American journal of medical genetics. Part A 2022 Jan . Murad Andrea M, Hill Hannah L, Wang Yu, Ghannam Michael, Yang Min-Lee, Pugh Norma L, Asch Federico M, Hornsby Whitney, Driscoll Anisa, McNamara Jennifer, Willer Cristen J, Regalado Ellen S, , , Milewicz Dianna M, Eagle Kim A, Ganesh Santhi |
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. International journal of environmental research and public health 2022 01 19 (2): . Wozniak-Mielczarek Lidia, Osowicka Michalina, Radtke-Lysek Alicja, Drezek-Nojowicz Magda, Gilis-Malinowska Natasza, Sabiniewicz Anna, Mielczarek Maksymilian, Sabiniewicz Robe |
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 |
Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients. Biomolecules and biomedicine 2023 6 . Maria Elena Soto, Giovanny Fuentevilla-Alvarez, Solange Gabriela Koretzky, Gilberto Vargas-Alarcón, Yazmín Estela Torres-Paz, Sergio Enrique Meza-Toledo, Israel Pérez-Torres, Claudia Huesca-Gómez, Ricardo Gamb |
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age. Journal of clinical medicine 2023 4 12 (8): . Jean Sénémaud, Marine Gaudry, Elisabeth Jouve, Arnaud Blanchard, Olivier Milleron, Yves Dulac, Laurence Olivier-Faivre, Dominique Stephan, Sylvie Odent, Damien Lanéelle, Sophie Dupuis-Girod, Guillaume Jondeau, Laurence Bal-Theoley |
A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. Scientific reports 2023 3 13 (1): 4900. Taniguchi Yuki, Akune Toru, Nishida Nao, Omori Go, Ha Kim, Ueno Kazuko, Saito Taku, Oichi Takeshi, Koike Asako, Mabuchi Akihiko, Oka Hiroyuki, Muraki Shigeyuki, Oshima Yasushi, Kawaguchi Hiroshi, Nakamura Kozo, Tokunaga Katsushi, Tanaka Sakae, Yoshimura Nori |
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature. Molecular genetics & genomic medicine 2023 3 e2166. Buki Gergely, Szalai Renata, Pinter Adrienn, Hadzsiev Kinga, Melegh Bela, Rauch Tibor, Bene Jud |
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 |
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. Annals of laboratory medicine 2023 10 . Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A L |
Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Frontiers in cardiovascular medicine 2023 1 9 1073069. Seim Bjørn Edvard, Holt Margrethe Flesvig, Ratajska Aleksandra, Michelsen Annika, Ringseth Monica Myklebust, Halvorsen Bente Evy, Skjelland Mona, Kvitting John-Peder Escobar, Lundblad Runar, Krohg-Sørensen Kirsten, Osnes Liv T N, Aukrust Pål, Paus Benedicte, Ueland Th |
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- Page last updated:Apr 29, 2024
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