Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Hirschsprung Disease and Gdnf[original query] |
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Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice. American journal of human genetics 2002 1 70 (2): 435-47. Shen Liya, Pichel José G, Mayeli Thomas, Sariola Hannu, Lu Bai, Westphal Hein |
Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. Journal of human genetics 2006 51 (12): 1126-32. Sangkhathat Surasak, Kusafuka Takeshi, Chengkriwate Piyawan, Patrapinyokul Sakda, Sangthong Burapat, Fukuzawa Masahi |
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease. Annals of human genetics 2009 Jan 73 (1): 19-25. Fernández R M, Sánchez-Mejías A, Mena M D, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego |
Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. Journal of pediatric surgery 2008 Nov 43 (11): 2042-7. Fernandez Raquel M, Ruiz-Ferrer Macarena, Lopez-Alonso Manuel, Antiñolo Guillermo, Borrego Sal |
Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine 2009 Mar 88 (2): 83-90. Pini Prato Alessio, Musso Marco, Ceccherini Isabella, Mattioli Girolamo, Giunta Camilla, Ghiggeri Gian Marco, Jasonni Vincen |
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Journal of medical genetics 2011 Jul 48 (7): 497-504. Jeanpierre Cécile, Macé Guillaume, Parisot Mélanie, Morinière Vincent, Pawtowsky Audrey, Benabou Marion, Martinovic Jelena, Amiel Jeanne, Attié-Bitach Tania, Delezoide Anne-Lise, Loget Philippe, Blanchet Patricia, Gaillard Dominique, Gonzales Marie, Carpentier Wassila, Nitschke Patrick, Tores Frédéric, Heidet Laurence, Antignac Corinne, Salomon Rémi, |
RET and NRG1 interplay in Hirschsprung disease. Human genetics 2013 May 132 (5): 591-600. Gui Hongsheng, Tang Wai-Kiu, So Man-Ting, Proitsi Petroola, Sham Pak C, Tam Paul K, Ngan Elly Sau-Wai, Sau-Wai Ngan Elly, Cherny Stacey S, Garcia-Barceló Maria-Mer |
Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease. Journal of pediatric surgery 2022 12 . Gunadi , Kalim Alvin Santoso, Iskandar Kristy, Marcellus , Puspitarani Dyah Ayu, Diposarosa Rizki, Makhmudi Akhmad, Astuti Galuh Dyah N |
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- Page last updated:Apr 29, 2024
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