These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. Uno T; Sawada M; Kurotaki T; Shinomiya N Pediatr Int; 2004 Oct; 46(5):615-7. PubMed ID: 15491396 [No Abstract] [Full Text] [Related]
3. Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome. Hardelin JP; Soussi-Yanicostas N; Levilliers J; Kalatzis V; Abdelhak S; Cohen-Salmon M; Petit C Adv Nephrol Necker Hosp; 1998; 28():419-28. PubMed ID: 9890002 [No Abstract] [Full Text] [Related]
4. Branchio-Oto-Renal syndrome. Kalatzis V; Petit C Adv Otorhinolaryngol; 2000; 56():39-44. PubMed ID: 10868212 [No Abstract] [Full Text] [Related]
5. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. Zhang H; Gao J; Wang H; Liu M; Lu S; Xu H; Tang W; Zheng G BMC Med Genomics; 2024 Apr; 17(1):89. PubMed ID: 38627775 [TBL] [Abstract][Full Text] [Related]
6. Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. Rodríguez-Soriano J; Vallo A; Bilbao JR; Castaño L Pediatr Nephrol; 2001 Jul; 16(7):550-3. PubMed ID: 11465802 [TBL] [Abstract][Full Text] [Related]
7. Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. Kim SH; Shin JH; Yeo CK; Chang SH; Park SY; Cho EH; Ki CS; Kim JW Int J Pediatr Otorhinolaryngol; 2005 Aug; 69(8):1123-8. PubMed ID: 16005355 [TBL] [Abstract][Full Text] [Related]
8. A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. Lee JD; Kim SC; Koh YW; Lee HJ; Choi SY; Kim UK Ann Clin Lab Sci; 2009; 39(3):303-6. PubMed ID: 19667416 [TBL] [Abstract][Full Text] [Related]
9. The gene for branchio-oculo-facial syndrome does not colocalize to the EYA1-4 genes. Correa-Cerro LS; Kennerknecht I; Just W; Vogel W; Müller D J Med Genet; 2000 Aug; 37(8):620-3. PubMed ID: 10991692 [No Abstract] [Full Text] [Related]
10. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). Stratakis CA; Lin JP; Rennert OM Am J Med Genet; 1998 Sep; 79(3):209-14. PubMed ID: 9788564 [TBL] [Abstract][Full Text] [Related]
11. Genetic research progress in branchio Chen A; Ling J; Feng Y Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Jan; 47(1):129-138. PubMed ID: 35545373 [TBL] [Abstract][Full Text] [Related]
12. Genetic heterogeneity associated with branchio-oto-renal syndrome. Kumar S; Kimberling WJ; Marres HA; Cremers CW Am J Med Genet; 1999 Mar; 83(3):207-8. PubMed ID: 10096598 [No Abstract] [Full Text] [Related]
13. A family affected by branchio-oto syndrome with EYA1 mutations. Fukuda S; Kuroda T; Chida E; Shimizu R; Usami S; Koda E; Abe S; Namba A; Kitamura K; Inuyama Y Auris Nasus Larynx; 2001 May; 28 Suppl():S7-11. PubMed ID: 11683347 [TBL] [Abstract][Full Text] [Related]
14. A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. Clarke JC; Honey EM; Bekker E; Snyman LC; Raymond RM; Lord C; Brophy PD Clin Genet; 2006 Jul; 70(1):63-7. PubMed ID: 16813606 [TBL] [Abstract][Full Text] [Related]
16. EYA1-related disorders: two clinical cases and a literature review. Castiglione A; Melchionda S; Carella M; Trevisi P; Bovo R; Manara R; Martini A Int J Pediatr Otorhinolaryngol; 2014 Aug; 78(8):1201-10. PubMed ID: 24803398 [TBL] [Abstract][Full Text] [Related]
17. Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. Rickard S; Boxer M; Trompeter R; Bitner-Glindzicz M J Med Genet; 2000 Aug; 37(8):623-7. PubMed ID: 10991693 [No Abstract] [Full Text] [Related]
18. Branchio-otic syndromes imbroglio. Kalatzis V; Petit C Am J Med Genet; 1999 Feb; 82(5):440-1. PubMed ID: 10069718 [No Abstract] [Full Text] [Related]
19. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome. Kalatzis V; Sahly I; El-Amraoui A; Petit C Dev Dyn; 1998 Dec; 213(4):486-99. PubMed ID: 9853969 [TBL] [Abstract][Full Text] [Related]
20. Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome. Kemperman MH; Koch SM; Kumar S; Huygen PL; Joosten FB; Cremers CW Int J Audiol; 2004 Oct; 43(9):523-32. PubMed ID: 15726843 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]