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Literature DB >> 9777487

Branchio-oto-renal syndrome.

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene.

Entities: Disease Gene

Mesh：

Substances：

Year: 1998 PMID： 9777487 DOI： 10.1016/s0021-9924(98)00013-6

Source DB: PubMed Journal: J Commun Disord ISSN： 0021-9924 Impact factor: 2.288

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Cited

11 in total

1. Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes.

Authors: Dan Zou; Derek Silvius; Bernd Fritzsch; Pin-Xian Xu
Journal: Development Date: 2004-10-20 Impact factor: 6.868

2. Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1.

Authors: Dan Zou; Derek Silvius; Julie Davenport; Raphaelle Grifone; Pascal Maire; Pin-Xian Xu
Journal: Dev Biol Date: 2006-03-10 Impact factor: 3.582

Review 3. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors: John D Gettelfinger; John P Dahl
Journal: J Pediatr Genet Date: 2018-01-04

4. Novel EYA1 variants causing Branchio-oto-renal syndrome.

Authors: Kyle D Klingbeil; Christopher M Greenland; Selcuk Arslan; Arianne Llamos Paneque; Hakan Gurkan; Selma Demir Ulusal; Reza Maroofian; Andrea Carrera-Gonzalez; Stefany Montufar-Armendariz; Rosario Paredes; Nursel Elcioglu; Ibis Menendez; Mahdiyeh Behnam; Joseph Foster; Shengru Guo; Sebastian Escarfuller; Filiz Basak Cengiz; Duygu Duman; Guney Bademci; Mustafa Tekin
Journal: Int J Pediatr Otorhinolaryngol Date: 2017-04-26 Impact factor: 1.675

Branchio-oto-renal syndrome.

1. Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes.

2. Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1.

Review 3. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

4. Novel EYA1 variants causing Branchio-oto-renal syndrome.

5. Brachio-Oto-Renal Syndrome: CT Imaging and Intraoperative Diagnostic Findings.

Review 6. Neural crest contributions to the ear: Implications for congenital hearing disorders.

7. ASD with the Bor Syndrome: A Case Report.

Review 8. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

9. A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

10. Anesthetic management of a patient with branchio-oto-renal syndrome.