Maher TA - Search Results

1

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C. Milunsky A, et al. Among authors: maher ta. Prenat Diagn. 2005 Nov;25(11):1057-8. doi: 10.1002/pd.1302. Prenat Diagn. 2005. PMID: 16302168

2

Prenatal molecular diagnosis of tuberous sclerosis complex.

Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Milunsky A, et al. Among authors: maher ta. Am J Obstet Gynecol. 2009 Mar;200(3):321.e1-6. doi: 10.1016/j.ajog.2008.11.004. Am J Obstet Gynecol. 2009. PMID: 19254590

3

Gene sequencing in neonates and infants with the long QT syndrome.

Shim SH, Ito M, Maher T, Milunsky A. Shim SH, et al. Genet Test. 2005 Winter;9(4):281-4. doi: 10.1089/gte.2005.9.281. Genet Test. 2005. PMID: 16379539

4

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

Milunsky A, Skare JC, Milunsky JM, Maher TA, Amos JA. Milunsky A, et al. Among authors: maher ta. Am J Obstet Gynecol. 1991 Mar;164(3):751-5. doi: 10.1016/0002-9378(91)90509-p. Am J Obstet Gynecol. 1991. PMID: 2003536

5

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

Milunsky JM, Maher TA, Michels VV, Milunsky A. Milunsky JM, et al. Among authors: maher ta. Am J Med Genet. 2001 May 15;100(4):311-4. doi: 10.1002/ajmg.1270. Am J Med Genet. 2001. PMID: 11343322

6

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Milunsky JM, et al. Among authors: maher ta. Genet Test. 2001 Winter;5(4):321-5. doi: 10.1089/109065701753617462. Genet Test. 2001. PMID: 11960578

7

The value of MLPA in Waardenburg syndrome.

Milunsky JM, Maher TA, Ito M, Milunsky A. Milunsky JM, et al. Among authors: maher ta. Genet Test. 2007 Summer;11(2):179-82. doi: 10.1089/gte.2006.0531. Genet Test. 2007. PMID: 17627390

8

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A. Wang Z, et al. Hum Reprod. 2002 Aug;17(8):2066-72. doi: 10.1093/humrep/17.8.2066. Hum Reprod. 2002. PMID: 12151438

9

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Huang XL, Isabel de Michelena M, Leon E, Maher TA, McClure R, Milunsky A. Huang XL, et al. Among authors: maher ta. Clin Genet. 2007 Nov;72(5):434-40. doi: 10.1111/j.1399-0004.2007.00894.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894838

10

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Anguiano A, et al. Among authors: maher ta. JAMA. 1992 Apr 1;267(13):1794-7. JAMA. 1992. PMID: 1545465

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