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Journal Abstract Search
267 related items for PubMed ID: 8986284
1. Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome? Clementi M, Mammi I, Tenconi R. Am J Med Genet; 1997 Jan 10; 68(1):91-3. PubMed ID: 8986284 [Abstract] [Full Text] [Related]
3. Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. Fraser FC, Ling D, Clogg D, Nogrady B. Am J Med Genet; 1978 Jan 10; 2(3):241-52. PubMed ID: 263442 [Abstract] [Full Text] [Related]
4. From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. Senel E, Kocak H, Akbiyik F, Saylam G, Gulleroglu BN, Senel S. J Pediatr Surg; 2009 Mar 10; 44(3):623-5. PubMed ID: 19302870 [Abstract] [Full Text] [Related]
5. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Kumar S, Marres HA, Cremers CW, Kimberling WJ. Am J Med Genet; 1998 Apr 13; 76(5):395-401. PubMed ID: 9556298 [Abstract] [Full Text] [Related]
6. Branchio-oto-renal syndrome. Garg A, Wadhera R, Gulati SP, Kumar A. J Assoc Physicians India; 2008 Nov 13; 56():904-5. PubMed ID: 19263692 [Abstract] [Full Text] [Related]
7. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Melnick M, Hodes ME, Nance WE, Yune H, Sweeney A. Clin Genet; 1978 May 13; 13(5):425-42. PubMed ID: 657583 [Abstract] [Full Text] [Related]
10. Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K. Eur J Med Genet; 2009 May 13; 52(6):393-7. PubMed ID: 19772953 [Abstract] [Full Text] [Related]
11. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Heimler A, Lieber E. Am J Med Genet; 1986 Sep 13; 25(1):15-27. PubMed ID: 3799714 [Abstract] [Full Text] [Related]
13. Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE. Am J Med Genet; 1994 Jun 01; 51(2):169-75. PubMed ID: 8092198 [Abstract] [Full Text] [Related]
15. Rare oculo-rhino-auditive variants of the branchial arch syndrome. Report of three cases with two necropsy records. Klein D, Giovannucci-Uzielli ML, Di Lollo S, Engel W, Rehder H. Ophthalmic Paediatr Genet; 1985 Aug 01; 6(1-2):307-12. PubMed ID: 4069590 [No Abstract] [Full Text] [Related]
18. 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 01; 213(4):486-99. PubMed ID: 9853969 [Abstract] [Full Text] [Related]