Branchio-oto-renal syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Branchio-oto-renal syndrome" in English language version.

refsWebsite

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14nih.gov

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9doi.org

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7web.archive.org

1^st place

2books.google.com

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2semanticscholar.org

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1rarediseases.org

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1taylorfrancis.com

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1harvard.edu

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1archives-ouvertes.fr

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1omim.org

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archives-ouvertes.fr

hal.archives-ouvertes.fr

Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011). "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations" (PDF). Human Mutation. 32 (2): 183–190. doi:10.1002/humu.21402. PMID 21280147. S2CID 25826641. Archived (PDF) from the original on 2022-11-13. Retrieved 2022-11-13.

books.google.com

Little MH (2015-08-06). Kidney Development, Disease, Repair and Regeneration. Academic Press. p. 269. ISBN 9780128004388.
Niparko JK (2009-01-01). Cochlear Implants: Principles & Practices. Lippincott Williams & Wilkins. p. 53. ISBN 9780781777490. Archived from the original on 2023-01-12. Retrieved 2020-11-25.

doi.org

Kumar S (2004). "Branchio-oto-renal Syndrome". In Willems PJ (ed.). Genetic Hearing Loss. New York: Marcel Dekker Inc. doi:10.1201/9780203913062. ISBN 9780203913062. Archived from the original on 2022-11-13. Retrieved 2022-11-13.
Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ (1997). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genetic Testing. 1 (4): 243–251. doi:10.1089/gte.1997.1.243. PMID 10464653.
Kumar S, Marres HA, Cremers CW, Kimberling WJ (April 1998). "Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13". American Journal of Medical Genetics. 76 (5): 395–401. doi:10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m. PMID 9556298.
Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW (October 1992). "Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family". Human Molecular Genetics. 1 (7): 491–495. doi:10.1093/hmg/1.7.491. PMID 1307249.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–8095. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011). "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations" (PDF). Human Mutation. 32 (2): 183–190. doi:10.1002/humu.21402. PMID 21280147. S2CID 25826641. Archived (PDF) from the original on 2022-11-13. Retrieved 2022-11-13.
Mehdizadeh T, Majumdar HD, Ahsan S, Tavares AL, Moody SA (June 2021). "Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes". Journal of Developmental Biology. 9 (3): 25. doi:10.3390/jdb9030025. PMC 8293042. PMID 34208995.
Izzedine H, Tankere F, Launay-Vacher V, Deray G (February 2004). "Ear and kidney syndromes: molecular versus clinical approach". Kidney International. 65 (2): 369–385. doi:10.1111/j.1523-1755.2004.00390.x. PMID 14717907.
Morisada N, Nozu K, Iijima K (June 2014). "Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan". Pediatrics International. 56 (3): 309–314. doi:10.1111/ped.12357. PMID 24730701. S2CID 40930806.

harvard.edu

ui.adsabs.harvard.edu

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–8095. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.

nih.gov

pubmed.ncbi.nlm.nih.gov

Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ (1997). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genetic Testing. 1 (4): 243–251. doi:10.1089/gte.1997.1.243. PMID 10464653.
Smith RJ (1993-01-01). "Branchiootorenal Spectrum Disorder". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al. (eds.). Branchiootorenal Spectrum Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301554. Archived from the original on 2021-03-09. Retrieved 2017-08-30.|updated, 2015|
Kumar S, Marres HA, Cremers CW, Kimberling WJ (April 1998). "Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13". American Journal of Medical Genetics. 76 (5): 395–401. doi:10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m. PMID 9556298.
Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW (October 1992). "Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family". Human Molecular Genetics. 1 (7): 491–495. doi:10.1093/hmg/1.7.491. PMID 1307249.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–8095. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011). "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations" (PDF). Human Mutation. 32 (2): 183–190. doi:10.1002/humu.21402. PMID 21280147. S2CID 25826641. Archived (PDF) from the original on 2022-11-13. Retrieved 2022-11-13.
Mehdizadeh T, Majumdar HD, Ahsan S, Tavares AL, Moody SA (June 2021). "Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes". Journal of Developmental Biology. 9 (3): 25. doi:10.3390/jdb9030025. PMC 8293042. PMID 34208995.
Izzedine H, Tankere F, Launay-Vacher V, Deray G (February 2004). "Ear and kidney syndromes: molecular versus clinical approach". Kidney International. 65 (2): 369–385. doi:10.1111/j.1523-1755.2004.00390.x. PMID 14717907.
Morisada N, Nozu K, Iijima K (June 2014). "Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan". Pediatrics International. 56 (3): 309–314. doi:10.1111/ped.12357. PMID 24730701. S2CID 40930806.

ncbi.nlm.nih.gov

Smith RJ (1993-01-01). "Branchiootorenal Spectrum Disorder". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al. (eds.). Branchiootorenal Spectrum Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301554. Archived from the original on 2021-03-09. Retrieved 2017-08-30.|updated, 2015|
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–8095. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.
Mehdizadeh T, Majumdar HD, Ahsan S, Tavares AL, Moody SA (June 2021). "Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes". Journal of Developmental Biology. 9 (3): 25. doi:10.3390/jdb9030025. PMC 8293042. PMID 34208995.

ghr.nlm.nih.gov

"Branchiootorenal syndrome". Genetics Home Reference. U.S. National Library of Medicine. 2015-11-23. Archived from the original on 2016-02-29. Retrieved 2015-11-29.

rarediseases.info.nih.gov

"Branchiootorenal syndrome | Disease | Overview". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 2016-07-27. Retrieved 2015-11-29.

omim.org

Online Mendelian Inheritance in Man (OMIM): Branchiootorenal Syndrome 1; BOR1 - 113650

rarediseases.org

"Branchio Oto Renal Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2020-09-26. Retrieved 2015-11-29.

semanticscholar.org

api.semanticscholar.org

Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011). "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations" (PDF). Human Mutation. 32 (2): 183–190. doi:10.1002/humu.21402. PMID 21280147. S2CID 25826641. Archived (PDF) from the original on 2022-11-13. Retrieved 2022-11-13.
Morisada N, Nozu K, Iijima K (June 2014). "Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan". Pediatrics International. 56 (3): 309–314. doi:10.1111/ped.12357. PMID 24730701. S2CID 40930806.

taylorfrancis.com

Kumar S (2004). "Branchio-oto-renal Syndrome". In Willems PJ (ed.). Genetic Hearing Loss. New York: Marcel Dekker Inc. doi:10.1201/9780203913062. ISBN 9780203913062. Archived from the original on 2022-11-13. Retrieved 2022-11-13.

web.archive.org

"Branchio Oto Renal Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2020-09-26. Retrieved 2015-11-29.
"Branchiootorenal syndrome". Genetics Home Reference. U.S. National Library of Medicine. 2015-11-23. Archived from the original on 2016-02-29. Retrieved 2015-11-29.
"Branchiootorenal syndrome | Disease | Overview". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 2016-07-27. Retrieved 2015-11-29.
Kumar S (2004). "Branchio-oto-renal Syndrome". In Willems PJ (ed.). Genetic Hearing Loss. New York: Marcel Dekker Inc. doi:10.1201/9780203913062. ISBN 9780203913062. Archived from the original on 2022-11-13. Retrieved 2022-11-13.
Smith RJ (1993-01-01). "Branchiootorenal Spectrum Disorder". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al. (eds.). Branchiootorenal Spectrum Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301554. Archived from the original on 2021-03-09. Retrieved 2017-08-30.|updated, 2015|
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011). "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations" (PDF). Human Mutation. 32 (2): 183–190. doi:10.1002/humu.21402. PMID 21280147. S2CID 25826641. Archived (PDF) from the original on 2022-11-13. Retrieved 2022-11-13.
Niparko JK (2009-01-01). Cochlear Implants: Principles & Practices. Lippincott Williams & Wilkins. p. 53. ISBN 9780781777490. Archived from the original on 2023-01-12. Retrieved 2020-11-25.