Maher TA - Search Results

1

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.

Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R. Vaglio A, et al. Among authors: maher ta. Eur J Med Genet. 2008 Jul-Aug;51(4):332-42. doi: 10.1016/j.ejmg.2008.01.001. Epub 2008 Jan 25. Eur J Med Genet. 2008. PMID: 18316257

2

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.

Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. Vaglio A, et al. Genet Test Mol Biomarkers. 2010 Feb;14(1):57-65. doi: 10.1089/gtmb.2009.0067. Genet Test Mol Biomarkers. 2010. PMID: 20143912

3

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

4

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. Huang XL, et al. Among authors: maher ta. Am J Med Genet A. 2010 Aug;152A(8):2112-4. doi: 10.1002/ajmg.a.33497. Am J Med Genet A. 2010. PMID: 20635338 No abstract available.

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

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A. Pilozzi-Edmonds L, et al. Among authors: maher ta. Am J Med Genet A. 2011 Aug;155A(8):1987-90. doi: 10.1002/ajmg.a.34094. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739585

7

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

8

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

9

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

10

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Dauber A, et al. Among authors: maher ta. Pediatrics. 2010 Dec;126(6):e1594-8. doi: 10.1542/peds.2010-0164. Epub 2010 Nov 1. Pediatrics. 2010. PMID: 21041284

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