近期论文

Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A. 2011 Aug; 155A(8):1987-90.View Related Profiles. PMID: 21739585; DOI: 10.1002/ajmg.a.34094;.
Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8.View Related Profiles. PMID: 21041284; DOI: 10.1542/peds.2010-0164;.
Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. 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. Genet Test Mol Biomarkers. 2010 Feb; 14(1):57-65.View Related Profiles. PMID: 20143912; DOI: 10.1089/gtmb.2009.0067;.
Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. 2009 Mar; 200(3):321.e1-6.View Related Profiles. PMID: 19254590; DOI: 10.1016/j.ajog.2008.11.004;.
Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R. 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. Eur J Med Genet. 2008 Jul-Aug; 51(4):332-42.View Related Profiles. PMID: 18316257; DOI: 10.1016/j.ejmg.2008.01.001;.
Shim SH, Ito M, Maher T, Milunsky A. Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005; 9(4):281-4.View Related Profiles. PMID: 16379539.
Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet A. 2004 Mar 15; 125A(3):320. PMID: 14994246.
Milunsky JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003 Jan 30; 116A(3):249-54. PMID: 12503101.
Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A. Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2002 Aug; 17(8):2066-72.View Related Profiles. PMID: 12151438.