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22. Branchio-Oto-Renal syndrome. Kalatzis V; Petit C Adv Otorhinolaryngol; 2000; 56():39-44. PubMed ID: 10868212 [No Abstract] [Full Text] [Related]
23. EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Shimasaki N; Watanabe K; Hara M; Kosaki K Pediatr Cardiol; 2004; 25(4):411-3. PubMed ID: 15493068 [TBL] [Abstract][Full Text] [Related]
24. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Chang EH; Menezes M; Meyer NC; Cucci RA; Vervoort VS; Schwartz CE; Smith RJ Hum Mutat; 2004 Jun; 23(6):582-9. PubMed ID: 15146463 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay. Migliosi V; Flex E; Guida V; Martini A; Giarbini N; Markova T; Torrente I; Dallapiccola B Clin Genet; 2004 Nov; 66(5):478-80. PubMed ID: 15479196 [No Abstract] [Full Text] [Related]
27. A case of the cardiofacial syndrome (Cayler's syndrome). Caksen H; Kurtoğlu S; Ustünbaş HB; Uzüm K; Narin N Acta Paediatr Jpn; 1996 Jun; 38(3):256-9. PubMed ID: 8741317 [TBL] [Abstract][Full Text] [Related]
28. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Rickard S; Parker M; van't Hoff W; Barnicoat A; Russell-Eggitt I; Winter RM; Bitner-Glindzicz M Hum Genet; 2001 May; 108(5):398-403. PubMed ID: 11409867 [TBL] [Abstract][Full Text] [Related]
29. 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]
31. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Xu PX; Adams J; Peters H; Brown MC; Heaney S; Maas R Nat Genet; 1999 Sep; 23(1):113-7. PubMed ID: 10471511 [TBL] [Abstract][Full Text] [Related]
32. Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Bawle EV; Conard J; Van Dyke DL; Czarnecki P; Driscoll DA Am J Med Genet; 1998 Oct; 79(5):406-10. PubMed ID: 9779813 [No Abstract] [Full Text] [Related]
33. BOR and BO syndromes are allelic defects of EYA1. Vincent C; Kalatzis V; Abdelhak S; Chaib H; Compain S; Helias J; Vaneecloo FM; Petit C Eur J Hum Genet; 1997; 5(4):242-6. PubMed ID: 9359046 [TBL] [Abstract][Full Text] [Related]
34. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Abdelhak S; Kalatzis V; Heilig R; Compain S; Samson D; Vincent C; Weil D; Cruaud C; Sahly I; Leibovici M; Bitner-Glindzicz M; Francis M; Lacombe D; Vigneron J; Charachon R; Boven K; Bedbeder P; Van Regemorter N; Weissenbach J; Petit C Nat Genet; 1997 Feb; 15(2):157-64. PubMed ID: 9020840 [TBL] [Abstract][Full Text] [Related]
35. Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Giannotti A; Digilio MC; Marino B; Mingarelli R; Dallapiccola B Am J Med Genet; 1994 Nov; 53(3):303-4. PubMed ID: 7856669 [No Abstract] [Full Text] [Related]
36. Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome. Levin SE; Silverman NH; Milner S S Afr Med J; 1982 Feb; 61(7):227-31. PubMed ID: 7058445 [TBL] [Abstract][Full Text] [Related]