Madeo AC - Search Results

1

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

Madeo AC, Manichaikul A, Pryor SP, Griffith AJ. Madeo AC, et al. J Med Genet. 2009 Jun;46(6):405-6. doi: 10.1136/jmg.2008.063610. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289392 Free PMC article.

2

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ. Pryor SP, et al. Among authors: madeo ac. J Med Genet. 2005 Feb;42(2):159-65. doi: 10.1136/jmg.2004.024208. J Med Genet. 2005. PMID: 15689455 Free PMC article. No abstract available.

3

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ. Choi BY, et al. Among authors: madeo ac. J Med Genet. 2009 Dec;46(12):856-61. doi: 10.1136/jmg.2009.067892. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578036 Free PMC article.

4

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. Choi BY, et al. Among authors: madeo ac. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.

5

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

King KA, Choi BY, Zalewski C, Madeo AC, Manichaikul A, Pryor SP, Ferruggiaro A, Eisenman D, Kim HJ, Niparko J, Thomsen J, Butman JA, Griffith AJ, Brewer CC. King KA, et al. Among authors: madeo ac. Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722. Laryngoscope. 2010. PMID: 19998422 Free PMC article.

6

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ. Chattaraj P, et al. Among authors: madeo ac. JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. JAMA Otolaryngol Head Neck Surg. 2013. PMID: 24051746

7

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, Del Castillo I, Griffith AJ. Labay V, et al. Among authors: madeo ac. Clin Genet. 2008 Jan;73(1):50-4. doi: 10.1111/j.1399-0004.2007.00925.x. Epub 2007 Nov 17. Clin Genet. 2008. PMID: 18028453

8

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ. Peters LM, et al. Among authors: madeo ac. Clin Genet. 2008 Apr;73(4):367-72. doi: 10.1111/j.1399-0004.2008.00966.x. Epub 2008 Feb 13. Clin Genet. 2008. PMID: 18279434

9

Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts.

Pryor SP, Demmler GJ, Madeo AC, Yang Y, Zalewski CK, Brewer CC, Butman JA, Fowler KB, Griffith AJ. Pryor SP, et al. Among authors: madeo ac. Arch Otolaryngol Head Neck Surg. 2005 May;131(5):388-92. doi: 10.1001/archotol.131.5.388. Arch Otolaryngol Head Neck Surg. 2005. PMID: 15897416

10

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

Makishima T, Madeo AC, Brewer CC, Zalewski CK, Butman JA, Sachdev V, Arai AE, Holbrook BM, Rosing DR, Griffith AJ. Makishima T, et al. Among authors: madeo ac. Am J Med Genet A. 2007 Jul 15;143A(14):1592-8. doi: 10.1002/ajmg.a.31793. Am J Med Genet A. 2007. PMID: 17567890

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