Literature DB >> 1478663

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

R J Smith1, K B Coppage, J K Ankerstjerne, D T Capper, S Kumar, J Kenyon, S Tinley, K Comeau, W J Kimberling.   

Abstract

Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.

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Year:  1992        PMID： 1478663     DOI： 10.1016/s0888-7543(05)80102-8

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  10 in total

1.  Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Authors:  S Kumar; K Deffenbacher; H A Marres; C W Cremers; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-04-03       Impact factor: 11.025

2.  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

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.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

5.  Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

Authors:  S Kumar; W J Kimberling; C J Connolly; S Tinley; H A Marres; C W Cremers
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

6.  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

7.  Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome.

Authors:  Indu Rana; Rajiv Dhawan; Sanjay Gudwani; Rajendra Bothra; N N Mathur
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2005-01

8.  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

9.  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

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

Authors:  Yan-Gong Wang; Shu-Ping Sun; Yi-Ling Qiu; Qing-He Xing; Wei Lu
Journal:  BMC Med Genet       Date:  2018-08-07       Impact factor: 2.103
  10 in total

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