Milunsky A - Search Results

1

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: milunsky a. 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

2

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: milunsky a. Am J Med Genet. 2001 May 15;100(4):311-4. doi: 10.1002/ajmg.1270. Am J Med Genet. 2001. PMID: 11343322

3

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

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

4

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: milunsky a. Pediatrics. 2010 Dec;126(6):e1594-8. doi: 10.1542/peds.2010-0164. Epub 2010 Nov 1. Pediatrics. 2010. PMID: 21041284

5

Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

Milunsky J, Maher T, Lebo R, Milunsky A. Milunsky J, et al. Among authors: milunsky a. Fetal Diagn Ther. 1998 May-Jun;13(3):167-8. doi: 10.1159/000020831. Fetal Diagn Ther. 1998. PMID: 9708440

6

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: milunsky a. 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

7

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. Al-Owain M, et al. Among authors: milunsky a. Clin Genet. 2011 Apr;79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x. Clin Genet. 2011. PMID: 20528889

8

Prenatal molecular diagnosis of tuberous sclerosis complex.

Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Milunsky A, et al. Among authors: milunsky jm. 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

9

The value of MLPA in Waardenburg syndrome.

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

10

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: milunsky a. 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

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