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Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Masuda M, Kanno A, Nara K, Mutai H, Morisada N, Iijima K, Morimoto N, Nakano A, Sugiuchi T, Okamoto Y, Masuda S, Katsunuma S, Ogawa K, Matsunaga T. Masuda M, et al. Sci Rep. 2022 Jan 19;12(1):969. doi: 10.1038/s41598-022-04885-w. Sci Rep. 2022. PMID: 35046468 Free PMC article.
Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely pathogenic variant (LP variant) of a causative gene. ...Development …
Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic …
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
Pao J, D'Arco F, Clement E, Picariello S, Moonis G, Robson CD, Juliano AF. Pao J, et al. AJNR Am J Neuroradiol. 2022 Feb;43(2):309-314. doi: 10.3174/ajnr.A7396. Epub 2022 Jan 20. AJNR Am J Neuroradiol. 2022. PMID: 35058298 Free PMC article.
BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto- …
BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome …
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.
Bertucci E, Mazza V, Lugli L, Ferrari F, Stanghellini I, Percesepe A. Bertucci E, et al. J Obstet Gynaecol Res. 2015 Nov;41(11):1831-4. doi: 10.1111/jog.12791. Epub 2015 Jul 30. J Obstet Gynaecol Res. 2015. PMID: 26227013
Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases. We report the f …
Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypop …
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management.
Jovic TH, Saldanha F, Kuo R, Ahmad T. Jovic TH, et al. J Plast Reconstr Aesthet Surg. 2014 Sep;67(9):1288-90. doi: 10.1016/j.bjps.2014.04.012. Epub 2014 May 14. J Plast Reconstr Aesthet Surg. 2014. PMID: 24933236
BACKGROUND: The presence of a branchial fistula with communication both internally and externally: a 'true' branchial fistula is rare, and may arise in the context of autosomal dominant conditions such as branchiootic syndrome and branchiootorenal syndrome. STUDY: W …
BACKGROUND: The presence of a branchial fistula with communication both internally and externally: a 'true' branchial fistula is rare, and m …
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
Unzaki A, Morisada N, Nozu K, Ye MJ, Ito S, Matsunaga T, Ishikura K, Ina S, Nagatani K, Okamoto T, Inaba Y, Ito N, Igarashi T, Kanda S, Ito K, Omune K, Iwaki T, Ueno K, Yahata M, Ohtsuka Y, Nishi E, Takahashi N, Ishikawa T, Goto S, Okamoto N, Iijima K. Unzaki A, et al. J Hum Genet. 2018 May;63(5):647-656. doi: 10.1038/s10038-018-0429-8. Epub 2018 Mar 2. J Hum Genet. 2018. PMID: 29500469
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR p …
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies …
Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
Song MH, Kwon TJ, Kim HR, Jeon JH, Baek JI, Lee WS, Kim UK, Choi JY. Song MH, et al. PLoS One. 2013 Jun 28;8(6):e67236. doi: 10.1371/journal.pone.0067236. Print 2013. PLoS One. 2013. PMID: 23840632 Free PMC article.
BACKGROUND: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clini …
BACKGROUND: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal …
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ. Kumar S, et al. Genet Test. 1997-1998;1(4):243-51. doi: 10.1089/gte.1997.1.243. Genet Test. 1997. PMID: 10464653
The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. ...
The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by branchial clefts, preau …
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Milunsky JM, et al. Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783. Am J Med Genet A. 2011. PMID: 21204207
Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. ...
Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. ...