Research Publications
Research Publications 2007-2008
Mechoso B, Vaglio A, Quadrelli A, Mark HFL, Huang X-L, Milunsky A, Quadrelli R. A De Novo Complex Chromosome Rearrangement Involving Chromosomes 2,3,5,9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Analyses. Fetal Diagn Ther 2007;22(4):249-253.
Milunsky JM, Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. In: Reece EA, Hobbins JC (Eds.) Clinical Obstetrics, The Fetus and the Mother, 3rd Edition, Blackwell Press, Oxford, UK, 2007.
Milunsky A. Epidemiology and Prevention of Neural Tube Defects. In: Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Edition, 2007 (In Press).
Vaglio A, Milunsky A, Huang X-L, Mechoso B, Quadrelli A, 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 partial trisomy 21q22.13→21q22.2 due to a de novo intrachromosomal duplication. (Submitted)
Vaglio A, Milunsky A, Huang X-L, Quadrelli A, Mechoso B, Quadrelli R. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet 2007;50(3):224-32.
Huang X-L, de Michelena MI, Leon E, Maher TA, McClure R, Milunsky A. Pallister-Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet 2007;72:434-440.
Vaglio A, Quadrelli R, Milunsky A et al. High Density Array Comparative Genomic Hybridization Analysis and follow-up of a child with a De Novo complex chromosome rearrangement detected prenatally. Prenatal Diag (In Press).
Milunsky JM, Maher TA, Ito M, Milunsky A. The Value of MLPA in Waardenburg Syndrome. Genet Test 11(2):179-182;2007.
Milunsky A. Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol 2007 Jul;37(1):76.
A twenty-one 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. Jan. 25.
Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal Molecular Diagnosis of
Tuberous Sclerosis Complex. (submitted).
Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007 Jul;120(1):e179-88.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E., Campbell L., Saitta SC, Clericuzio CL., Milunsky JM, et al. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008.
Caronna EB, Milunsky JM, Tager-Flusberg H. Autism spectrum disorders: clinical and research frontiers. Arch Dis Child. 2008 Jun;93(6)518-23.
Milunsky JM, Maher Ta, Zhao G, Huang XL, Wang Z., Zou Y. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. Clin Genet 2008 May;73(5):502-3.
Milunsky JM, Maher Ta, Zhao G, et al. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet 2008 May;82(5):1171-7.
Nolan VG, Ma Q, Cohen HT, “Adewoye A, Rybicki AC, Baldwin C, et al. Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B. Am J. Hematol 2007 Mar;82(3):179-84.
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007 Feb;39(2):168-77.
Sebastiani P, Nolan VG, Baldwin CT, et al. A network model to predict the risk of death in sickle cell disease. Blood 2007 Oct 1;110(7):2727-35.
Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH. Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. Am J Hematol 2008 Mar;83(3):189-95.
Sebastiani P, Zhao Z, Abad-Grau MM, et al. A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples. BMC Genet 2008 Jan 14;9-6.
Milunsky JM. FGF10, FGFR2 and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome. In: Epstein C, Erickson R, Wynshaw-Boris A (Eds.) Inborn Errors of Development, 2nd Edition, Oxford University Press, Oxford UK. 2008.
Sarosi G, Brown G, Jaiswal K, Feagins LA, Lee E, Crook TW, Souza RF, Zou YS, Shay JW, Spechler SJ. Bone marrow progenitor cells contribute to esophageal regeneration and metaplasia in a rat model of Barrett’s esophagus. Dis Esophagus. 21:43-50,2008.
Van Dyke DL., Ebrahim SA., Al Saadi AA., Powell SA., Zenger-Hain JL., Micale MA., Wiktor AE., Zou Y. The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988-2003. Prenat Diagn. 27(6):583-584, 2007.
Zou Y., Fink S., Stockero K., Paternoster S., Smoley S., Tun H., Reeder CB., Tefferi A., Dewald GW. Efficacy of conventional cytogenetics and FISH for EGR1 to detect deletion 5q in hematological disorders and to assess response to treatment with Lenalidomide. Leukemia Res. 31(9):1193-1197, 2007.
Zou Y., Van Dyke DL., Ellison JW. Microarray comparative genomic hybridization and FISH studies for unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems. Am. J. Med. Genet. 143(7):746-751, 2007.
Jalal SM., Zou Y., Gliem TJ. Multicolor FISH (M-FISH) or 24 Color FISH. The AGT Cytogenetics Laboratory Manual (fourth edition), Elsevier Saunders, 2007.
Merritt JL., Zou Y., Jalal SM., Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am. J. Med. Genet.143A:599-603, 2007.
