Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: CRELD1[original query] |
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Novel CRELD1 gene mutations in patients with atrioventricular septal defect. World journal of pediatrics : WJP 2010 Nov 6 (4): 348-52. Guo Ying, Shen Jie, Yuan Lang, Li Fen, Wang Jian, Sun K |
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India. Genetic testing and molecular biomarkers 0 15 (7-8): 483-7. Kusuma Lingaiah, Dinesh Sosalagere M, Savitha Mysore R, Krishnamurthy Balasundaram, Narayanappa Doddaiah, Ramachandra Nallur |
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. American journal of medical genetics. Part A 2012 Nov 158A (11): 2843-8. Ghosh Priyanka, Bhaumik Pranami, Ghosh Sujoy, Ozbek Umut, Feingold Eleanor, Maslen Cheryl, Sarkar Biswanath, Pramanik Vishmadeb, Biswas Priyanka, Bandyopadhyay Biswajit, Dey Subrata Kum |
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American journal of human genetics 2012 Oct 91 (4): 646-59. Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl |
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects. Pediatric cardiology 2015 Apr 36 (4): 802-8. Alcántara-Ortigoza Miguel A, De Rubens-Figueroa Jesús, Reyna-Fabian Miriam E, Estandía-Ortega Bernardette, González-del Angel Ariadna, Molina-Álvarez Bertha, Velázquez-Aragón José A, Villagómez-Martínez Sandra, Pereira-López Gabriela I, Cruz-Martínez Víctor, Álvarez-Gómez Rosa M, García-Díaz Lui |
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS genetics 2014 1 (1): 1-19. Redig Jennifer K, Fouad Gameil T, Babcock Darcie, Reshey Benjamin, Feingold Eleanor, Reeves Roger H, Maslen Cheryl |
Identification of Copy Number Variations in Isolated Tetralogy of Fallot. Pediatric cardiology 2015 Jun . Aguayo-Gómez Adolfo, Arteaga-Vázquez Jazmín, Svyryd Yevgeniya, Calderón-Colmenero Juan, Zamora-González Carlos, Vargas-Alarcón Gilberto, Mutchinick Osvaldo |
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. Gene 2017 10 641 180-185. Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Sarangi Aditya Narayan, Muthuswamy Srinivasan, Kapoor Adit |
Identification of Thrombosis-Related Genes in Patients with Advanced Gastric Cancer: Data from AGAMENON-SEOM Registry. Biomedicines 2022 1 10 (1): . Zaragoza-Huesca David, Garrido-Rodríguez Pedro, Jiménez-Fonseca Paula, Martínez de Castro Eva, Sánchez-Cánovas Manuel, Visa Laura, Custodio Ana, Fernández-Montes Ana, Peñas-Martínez Julia, Morales Del Burgo Patricia, Gallego Javier, Luengo-Gil Ginés, Vicente Vicente, Martínez-Martínez Irene, Carmona-Bayonas Alber |
Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India. BMC pediatrics 2023 6 23 (1): 290. Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellapp |
Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics 2023 11 101023. Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David McCormick, Elisabeth McGee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, , , , Mustafa K Khokha, Carsten G Bönnemann, Carrie L Lucas, Saquib A Lakha |
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- Page last updated:Apr 22, 2024
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