Research Publications 2004-2005
Ikeda Y, Dalton J, Moseley M, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LPW. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 ataxia families. Am J Hum Genet 75:3;2004.
Wyandt, H, Milunsky A. Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis. Fetal Diagnosis & Therapy (In Press).
Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumond MR, Milunsky JM. Precise Prenatal Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene. Prenatal Diagnosis 25(7):582-585;2005.
Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C. The Prenatal Diagnosis of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Prenatal Diagnosis 2005;25(11):1057-1058.
Shim SH, Ito M, Maher T, Milunsky, A. Gene Sequencing in Neonates and Infants with the Long QT Syndrome (LQTS). Genetic Testing 2005;9(4):281-284.
Huang X-L, deMichelena MA, Mark HFL, Harston R, Benke PJ, Price SJ, Milunsky A. Characterization of an Analphoid Supernumerary marker Chromosome with a Neocentromere Derived from 15q25?qter Using High Resolution CGH and Multiplex FISH Analyses. Clin Genet 2005;68(6):513-9.
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. Genetics in Medicine 2005 (In Press).
Shim SH, Wyandt HE, McDonald-McGinn DM, Zackai EZ, Milunsky A. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg’s syndrome and other congenital defects. Clin Genet 2004:66:46-52.
Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia
in older males. Am J Med Genet 125A:320; 2004.
Siegel B, Milunsky JM. When should the possibility of a genetic disorder cross
your radar screen? Contemp Pediatr 21(5):30-45;2004.
Ivan CS, Saint-Hilaire MH, Christensen TG, Milunsky JM. Adult-Onset Neuronal Ceroid Lipofuscinosis Type B in an African American. Movement Disorders Feb, 2005.
Mark HFL, Wyandt H, Huang XL, Milunsky JM. Delineation of a Supernumerary Marker Chromosome Utilizing a Multimodal Approach of G-Banding, FISH, Confirmatory PAC-FISH and High Resolution CGH. Clin Genet 68:146-151, 2005.
Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brummund MR, Milunsky JM. Precise Prenatal Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene. Prenatal Diag 25(7):582-585, 2005.
Mark HFL, Wyandt H, Pan A, Milunsky JM. Constitutional Partial 1Q Trisomy Mosaicism and Wilms Tumor. Cancer Genet Cytogenet. Cancer Genetics and Cytogenetics 162 (2005) 166-171, 2005.
Wyandt HE, Tonk VS, Huang XL, Evans AT, Milunsky JM, Milunsky A. Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis. Fetal Diag Ther (In Press).
Wyandt HE, Shim SH, Huang XL, Milunsky JM. Familial Duplication of 11p14.3-p15.1 in a Mentally Retarded Mother and Son Confirmed by High Resolution CGH and BAC FISH. (Submitted).
Margolin DH, Adam I, Sims KS, Milunsky JM, Milunsky A, Seminara SB, Chan J, Hedley-Whyte ET. Hypogonadism-ataxia-dementia syndrome with neuronal intranuclear inclusions. (Submitted).
Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. LADD syndrome is caused by FGF10 mutations. (Submitted).
Saleh M, Vaillancourt JP, Graham RK, Huyck M, Srinivasula SM, Alnemri ES, Steinberg MH, Nolan V, Baldwin CT, Hotchkiss RS, Buchman TG, Zehnbauer BA, Hayden MR, Farrer LA, Roy S, Nicholson DW. (2004) Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms. Nature. 429(6987):75-9.
Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH (2004) Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. Cell Mol Biol (Noisy-le-grand). 50(1):23-33.
Triantafyllidi E, Baldwin C, Schwartz F and Gavras H (2004) Study of Hypertension in Spontaneous Hypertensive Rats by Sequencing the Genomic DNA of Alpha 2B Receptors. Hellenic J Cardiol 45: 65-70.
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
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(1):372-5.
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(4):435-40.
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(1):3-7.
Cui J, Melista E, Chazaro I, Zhang Y, Zhou X, Manolis AJ, Baldwin CT, Destefano AL, Gavras H. (2005) Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. J Hypertens 23(1):55-62.
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(2):266-72.
Koenen K, Saxe G, Purcell S, Smoller J, Bartholomew D, Miller A, Hall E, Kaplow J, Bosquet M, Moulton S, Baldwin C (2005) Polymorphisms in FKBP5 are associated with peritraumatic dissociaiton in medically injured children. Molecular Psychiatry (In Press)
Russo CJ, Melista E, Cui J, DeStefano AL, Bakris GL, Manolis AJ, Gavras H, Baldwin CT. Association of NEDD4L ubiquitin ligase with essential hypertension. Hypertension. 2005 Sep;46(3):488-91.
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. 2005 Nov 30; [Epub ahead of print]
