Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Syndrome and JAG1[original query] |
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| Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002 Nov 106 (20): 2567-74. McElhinney Doff B, Krantz Ian D, Bason Lynn, Piccoli David A, Emerick Karan M, Spinner Nancy B, Goldmuntz Elizabe |
| Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. Hepatology (Baltimore, Md.) 2007 Aug 46 (2): 598-9. Suskind David L, Murray Karen |
| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
| Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Human mutation 2010 May 31 (5): 594-601. Bauer Robert C, Laney Ayanna O, Smith Rosemarie, Gerfen Jennifer, Morrissette Jennifer J D, Woyciechowski Stacy, Garbarini Jennifer, Loomes Kathleen M, Krantz Ian D, Urban Zsolt, Gelb Bruce D, Goldmuntz Elizabeth, Spinner Nancy |
| Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population. Meta gene 2014 Dec 2 32-40. Vázquez-Martínez Edgar Ricardo, Varela-Fascinetto Gustavo, García-Delgado Constanza, Rodríguez-Espino Benjamín Antonio, Sánchez-Boiso Adriana, Valencia-Mayoral Pedro, Heller-Rosseau Solange, Pelcastre-Luna Erika Lisselly, Zenteno Juan C, Cerbón Marco, Morán-Barroso Verónica Fabio |
| Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
| Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. Acta paediatrica (Oslo, Norway : 1992) 2017 Jul . Ohashi Kei, Togawa Takao, Sugiura Tokio, Ito Koichi, Endo Takeshi, Aoyama Kohei, Negishi Yutaka, Kudo Toyoichiro, Ito Reiko, Saitoh Shin |
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Cellular and molecular gastroenterology and hepatology 2016 Sep 2 (5): 663-675.e2. Tsai Ellen A, Gilbert Melissa A, Grochowski Christopher M, Underkoffler Lara A, Meng He, Zhang Xiaojie, Wang Michael M, Shitaye Hailu, Hankenson Kurt D, Piccoli David, Lin Henry, Kamath Binita M, Devoto Marcella, Spinner Nancy B, Loomes Kathleen |
| Alagille Syndrome. Clinics in liver disease 2018 9 22 (4): 625-641. Mitchell Ellen, Gilbert Melissa, Loomes Kathleen |
| Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ?43% of 35 Families With Midaortic Syndrome. Hypertension (Dallas, Tex. : 1979) 2018 2 71 (4): 691-699. Warejko Jillian K, Schueler Markus, Vivante Asaf, Tan Weizhen, Daga Ankana, Lawson Jennifer A, Braun Daniela A, Shril Shirlee, Amann Kassaundra, Somers Michael J G, Rodig Nancy M, Baum Michelle A, Daouk Ghaleb, Traum Avram Z, Kim Heung Bae, Vakili Khashayar, Porras Diego, Lock James, Rivkin Michael J, Chaudry Gulraiz, Smoot Leslie B, Singh Michael N, Smith Edward R, Mane Shrikant M, Lifton Richard P, Stein Deborah R, Ferguson Michael A, Hildebrandt Friedhe |
| 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 |
| Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. JGH open : an open access journal of gastroenterology and hepatology 2022 12 6 (12): 839-845. Chiang Che-Ming, Jeng Yung-Ming, Ho Ming-Chih, Lai Ming-Wei, Li Huei-Ying, Chen Pei-Lung, Lee Ni-Chung, Wu Jia-Feng, Chiu Yu-Chun, Liou Bang-Yu, Ni Yen-Hsuan, Hsu Hong-Yuan, Chang Mei-Hwei, Chen Huey-Li |
| Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. International journal of molecular sciences 2023 7 24 (14): . Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharo |
| Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
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