Literature DB >> 8092199

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

L Ni1, M J Wagner, W J Kimberling, M E Pembrey, K M Grundfast, S Kumar, S P Daiger, D E Wells, K Johnson, R J Smith.   

Abstract

Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease locus most likely is flanked by markers D8S530 and D8S279.

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Mesh：

Year:  1994        PMID： 8092199     DOI： 10.1002/ajmg.1320510222

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.

Authors:  Andrew L Schwaderer; Carlton M Bates; Kirk M McHugh; Kim L McBride
Journal:  Pediatr Nephrol       Date:  2006-09-15       Impact factor: 3.714

2.  Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Authors:  Patrick D Brophy; Fatemeh Alasti; Benjamin W Darbro; Jason Clarke; Carla Nishimura; Bryan Cobb; Richard J Smith; J Robert Manak
Journal:  Hum Genet       Date:  2013-07-13       Impact factor: 4.132

3.  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

4.  EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Authors:  Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

5.  Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Authors:  Hui Ram Kim; Mee Hyun Song; Min-A Kim; Ye-Ri Kim; Kyu-Yup Lee; Jong Kyung Sonn; Jaetae Lee; Jae Young Choi; Un-Kyung Kim
Journal:  Mol Biol Rep       Date:  2014-03-04       Impact factor: 2.316

6.  Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

Authors:  J Pao; F D'Arco; E Clement; S Picariello; G Moonis; C D Robson; A F Juliano
Journal:  AJNR Am J Neuroradiol       Date:  2022-01-20       Impact factor: 3.825

Review 7.  Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Authors:  Tâmara Andrade Lindau; Ana Cláudia Vieira Cardoso; Natalia Freitas Rossi; Célia Maria Giacheti
Journal:  Int Arch Otorhinolaryngol       Date:  2013-11-05
  7 in total

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