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23. Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome. Just W; Trautmann T; Baumstark A; Müller D Am J Med Genet A; 2003 Mar; 117A(2):196-8. PubMed ID: 12567424 [No Abstract] [Full Text] [Related]
26. [A case report and literature review of branchio-oto-renal syndrome]. Huang YJ; Jin M; Bao XL Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2009 Apr; 44(4):339-40. PubMed ID: 19558847 [No Abstract] [Full Text] [Related]
27. Vestibular dilatation in branchio-oto-renal syndrome. Sennaroglu L Otolaryngol Head Neck Surg; 2005 Oct; 133(4):648; author reply 648. PubMed ID: 16213971 [No Abstract] [Full Text] [Related]
28. Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. Reiber J; Sznajer Y; Posteguillo EG; Müller D; Lyonnet S; Baumann C; Just W Am J Med Genet A; 2010 Aug; 152A(8):2143. PubMed ID: 20635357 [No Abstract] [Full Text] [Related]
29. Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement. Lugli L; Just W; Genovese E; Palma S; Ferrari F; Percesepe A Clin Dysmorphol; 2015 Jan; 24(1):17-20. PubMed ID: 25325184 [No Abstract] [Full Text] [Related]
30. [Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. Markova TG Vestn Otorinolaringol; 2006; (6):25-8. PubMed ID: 17419499 [TBL] [Abstract][Full Text] [Related]
31. 6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. LeBlanc SK; Yu S; Barnett CP Am J Med Genet A; 2013 Apr; 161A(4):901-4. PubMed ID: 23495225 [No Abstract] [Full Text] [Related]
32. 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]
33. Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. Taylor MH; Wilton NC Paediatr Anaesth; 2007 Jan; 17(1):80-3. PubMed ID: 17184439 [TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Olavarrieta L; Morales-Angulo C; del Castillo I; Moreno F; Moreno-Pelayo MA Clin Genet; 2008 Mar; 73(3):262-7. PubMed ID: 18177466 [TBL] [Abstract][Full Text] [Related]
37. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Sanggaard KM; Rendtorff ND; Kjaer KW; Eiberg H; Johnsen T; Gimsing S; Dyrmose J; Nielsen KO; Lage K; Tranebjaerg L Eur J Hum Genet; 2007 Nov; 15(11):1121-31. PubMed ID: 17637804 [TBL] [Abstract][Full Text] [Related]
38. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Kochhar A; Orten DJ; Sorensen JL; Fischer SM; Cremers CW; Kimberling WJ; Smith RJ Hum Mutat; 2008 Apr; 29(4):565. PubMed ID: 18330911 [TBL] [Abstract][Full Text] [Related]
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40. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Orten DJ; Fischer SM; Sorensen JL; Radhakrishna U; Cremers CW; Marres HA; Van Camp G; Welch KO; Smith RJ; Kimberling WJ Hum Mutat; 2008 Apr; 29(4):537-44. PubMed ID: 18220287 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]