Research Publications 2006-2007

  1. Wyandt HE, Shim SH, Huang XL, Mark HFL, Milunsky JM. Duplication of 11p14.3-p15.1 in a Mentally Retarded Proband and his mother detected by G-Banding and Confirmed by High-Resolution CGH and BAC FISH. Exp Mol Pathol 80: 262-266; 2006.
  2. Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. LADD syndrome is caused by FGF10 mutations. Clin Genet 69: 349-354; 2006.
  3. Flynn M, Milunsky JM. Autosomal Dominant Syndrome Resembling Coffin-Siris Syndrome. Am J Med Genet 140A: 1326-1330; 2006.
  4. Vaglio A, Gonzalo G, Bernal M, Sanguinetti C, Mechoso B, Quadrelli A, Tucci P, Milunsky JM, Huang XL, Pagano S, Quadrelli R. Prenatal and Postnatal characterization of a de novo Xq22.1 terminal deletion. Genet Test 10: 272-276; 2006.
  5. Milunsky J and Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. In Clinical Obstetrics. E.A. Reece and J.C.Hobbins (Editors), 2nd Ed. Lippincott-Raven, Philadelphia.
  6. Wyandt, H, Tonk VJ, Huang X-L, Evans AT, Milunsky JM, Milunsky A. Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis. FETAL DIAG THER 21(2):235-240;2006.
  7. Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. A Large Deletion in the CFTR Gene in a CBAVD patient. GENET MED 2006:8(2):93-95.
  8. Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss M, Quan F, Anguiano A, Huang S, Hantash F, Strom S. The CFTR 5T Variant has a Low Penetrance in Females that is Partially Attributable to its Haplotype. Genet Med 2006:8(6):339-345.
  9. 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 (In Press)
  10. Milunsky A. Epidemiology and Prevention of Neural Tube Defects. In: Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Ed., (Submitted).
  11. Vaglio A, Milunsky A, Huang, X-L, Quardrelli A, Mechoso B, Quadrelli R. Partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12. (Submitted)
  12. 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. (Submitted)
  13. Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quardrelli 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 Jan 21. [Epub ahead of print]
  14. Nolan VG, Baldwin C, Ma Q, Wyszynski DF, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer LA, Steinberg MH. (2005) Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. Br J Haematol. 128:266-72.
  15. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH. (2005) Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet. 37:435-40.
  16. Zhou XF, Cui J, DeStefano AL, Chazaro I, Farrer LA, Manolis AJ, Gavras H, Baldwin CT. (2005) Polymorphisms in the promoter region of catalase gene and essential hypertension. Dis Markers. 21:3-7.
  17. Bowirrat A, Cui J, Waraska K, Friedland R, Oscar-Berman M, Farrer L, Korczyn A, Baldwin C. (2005) Lack of association between angiotensin-converting enzyme and dementia of the Alzheimer’s type in an elderly Arab population in Wadi Ara, Israel Neuropsychiatric Disease and Treatment 1: 73-76
  18. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH. (2005) Association of Klotho, bone morphogenic protein 6 and annexin A2 polymorphisms with sickle cell osteonecrosis. Blood 106:372-5
  19. Russo CJ, Melista E, Cui J, DeStefano AL, Bakris GL, Manolis AJ, Gavras H, Baldwin CT. (2005) Association of NEDD4L ubiquitin ligase with essential hypertension. Hypertension 46:488-91
  20. Erlich PM, Lunetta KL, Cupples LA, Huyck M, Green RC, Baldwin CT, Farrer LA. Polymorphisms in the PON gene cluster are associated with Alzheimer disease. Hum Mol Genet. 2006;15(1):77-85.
  21. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH. Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway. Br J Haematol. 2006;133:570-8.
  22. Meng Y, Baldwin CT, Bowirrat A, Waraska K, Inzelberg R, Friedland RP, Farrer LA. Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community. Am J Hum Genet. 2006;78:871-7.
  23. Adewoye AH, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH. Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia. Clin Infect Dis. 2006 43:593-8.
  24. Akomolafe A, Lunetta KL, Erlich PM, Cupples LA, Baldwin CT, Huyck M, Green RC, Farrer LA; MIRAGE Study Group. Genetic association between endothelial nitric oxide synthase and Alzheimer disease. Clin Genet. 2006 70:49-56
  25. Nolan VG, Ma Q, Cohen HT, Adewoye A, Rybicki AC, Baldwin C, Mahabir RN, Homan EP, Wyszynski DF, Fabry ME, Nagel RL, Farrer LA, Steinberg MH. Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B. EPUB Am J Hematol. 2006.
  26. Terry DF, Wyszynski DF, Nolan VG, Atzmon G, Schoenhofen EA, Pennington JY, Andersen SL, Wilcox MA, Farrer LA, Barzilai N, Baldwin CT, Asea A. Serum heat shock protein 70 level as a biomarker of exceptional longevity. Mech Ageing Dev. 2006;127:862-8.
  27. Rogaeva E, Meng Y, Lee J, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin C, Cheng R et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics EPUB Jan 2007.

URL: www.bumc.bu.edu/hg/ResearchPublications/2006-2007
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of BU School of Medicine