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MBBCh, University of the Witwatersrand

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

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Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. PMID: 23656588; PMCID: PMC3738065; DOI: 10.1056/NEJMoa1215993;

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.

Milunsky, Aubrey
Basran, Raveen
Maher, Thomas

PMID: 21739585; DOI: 10.1002/ajmg.a.34094;

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet. 2011 Apr; 79(4):363-70.View Related Profiles.

Milunsky, Aubrey
Basran, Raveen

PMID: 20528889; DOI: 10.1111/j.1399-0004.2010.01462.x;

Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 Jan; 155A(1):141-4.View Related Profiles.

Milunsky, Aubrey
Flynn, Maureen
Zou, Ying

PMID: 21204222; DOI: 10.1002/ajmg.a.33756;

Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2010 Dec 9.View Related Profiles.

Milunsky, Aubrey
Zou, Ying

PMID: 21154627; DOI: 10.1002/ajmg.a.33756;

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.

Milunsky, Aubrey
Maher, Thomas

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 20143912; DOI: 10.1089/gtmb.2009.0067;

Milunsky A, J. Milunsky. Preconception, Prenatal and Perinatal. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. UK. 2010.
Milunsky A, Canick J. Maternal Serum Screening for Neural Tube and Other Defects. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. UK. 2010.
Milunsky A. Amniotic Fluid. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010. Amniotic Fluid. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. U.K. 2010.

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Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang XL, Viera E, Mechoso B, Bellini S, Costabel M, Vaglio A. A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet Test Mol Biomarkers. 2009 Jun; 13(3):387-93.View Related Profiles.

Milunsky, Aubrey
Zou, Ying

PMID: 19473082; DOI: 10.1089/gtmb.2008.0120;

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.

Milunsky, Aubrey
Milunsky, Jeff
Flynn, Maureen
Maher, Thomas

PMID: 19254590; DOI: 10.1016/j.ajog.2008.11.004;

Milunsky A. Epidemiology and Prevention of Neural Tube Defects. Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery. Churchill Livingstone. 2009.

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 18316257; DOI: 10.1016/j.ejmg.2008.01.001;

Huang XL, Isabel de Michelena M, 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 Nov; 72(5):434-40.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 17894838

Milunsky A. Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol. 2007 Jul; 37(1):76. PMID: 17628230

Mechoso B, Vaglio A, Quadrelli A, Mark HF, Huang XL, 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 cytogenetic analyses. Fetal Diagn Ther. 2007; 22(4):249-53. PMID: 17369689

Milunsky JM, Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. Reece EA, Hobbins JC (Eds.) Clinical Obstetrics: The Fetus and Mother. Wiley-Blackwell. U.K. 2007.

Vaglio A, Milunsky A, Huang XL, 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 May-Jun; 50(3):224-32. PMID: 17329177

Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007; 11(2):179-82.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 17627390

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C. CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med. 2006 Jun; 8(6):339-45. PMID: 16778595

Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. A large deletion in the CFTR gene in CBAVD. Genet Med. 2006 Feb; 8(2):93-5. PMID: 16481891

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 Diagn Ther. 2006; 21(2):235-40.View Related Profiles.

Milunsky, Aubrey
Wyandt, Herman

PMID: 16491010

Huang XL, de Michelena MI, Mark H, Harston R, Benke PJ, Price SJ, Milunsky A. Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet. 2005 Dec; 68(6):513-9. PMID: 16283881

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) by mutation analysis. Prenat Diagn. 2005 Nov; 25(11):1057-8.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 16302168

Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumund MR, Milunsky JM. Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diagn. 2005 Jul; 25(7):582-5. PMID: 16032769

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 16379539

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 Jul; 66(1):46-52. PMID: 15200507

Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004 Jul; 75(1):3-16. PMID: 15152344; PMCID: PMC1182005

Prior TW, Milunsky A, Vnencak-Jones CL, Phillips JA, III. Molecular Genetics and Prenatal Diagnosis. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 5th Edition, (A. Milunsky, Editor). Johns Hopkins University Press, Baltimore, 2004. Molecular Genetics and Prenatal Diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, (A. Milunsky, Editor). Johns Hopkins University Press. Baltimore. 2004.
Milunsky A, Canick JA. Maternal Serum Screening for Neural Tube and Other Defects. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, (A. Milunsky, Editor). Johns Hopkins University Press. Baltimore. 2004.
Milunsky A. Genetic Counseling: Preconception, Prenatal, and Perinatal. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, (A. Milunsky, Editor). Johns Hopkins University Press. Baltimore. 2004.

Milunsky A. Lies, damned lies, and medical experts: the abrogation of responsibility by specialty organizations and a call for action. J Child Neurol. 2003 Jun; 18(6):413-9. PMID: 12886977

Moore LL, Bradlee ML, Singer MR, Rothman KJ, Milunsky A. Folate intake and the risk of neural tube defects: an estimation of dose-response. Epidemiology. 2003 Mar; 14(2):200-5.View Related Profiles.

Milunsky, Aubrey
Rothman, Kenneth
Moore, Lynn

PMID: 12606886

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.

Milunsky, Aubrey
Oates, Robert
Maher, Thomas

PMID: 12151438

Kirsch S, Weiss B, Kleiman S, Roberts K, Pryor J, Milunsky A, Ferlin A, Foresta C, Matthijs G, Rappold GA. Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. J Med Genet. 2002 Jul; 39(7):507-13. PMID: 12114485; PMCID: PMC1735180

Moore LL, Bradlee ML, Singer MR, Rothman KJ, Milunsky A. Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol. 2002 Apr 15; 155(8):719-24.View Related Profiles.

Milunsky, Aubrey
Rothman, Kenneth
Moore, Lynn

PMID: 11943689

Ma Y, Zhang S, Xia Q, Zhang G, Huang X, Huang M, Xiao C, Pan A, Sun Y, Lebo R, Milunsky A. Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod. 2002 Jan; 8(1):24-31. PMID: 11756566

Zhang S, Qiu W, Wu H, Zhang G, Huang M, Xiao C, Yang J, Kamp C, Huang X, Huellen K, Yue Y, Pan A, Lebo R, Milunsky A, Vogt PH. The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Biochem J. 2001 Nov 1; 359(Pt 3):721-7. PMID: 11672448; PMCID: PMC1222195

Merchant SN, McKenna MJ, Baldwin CT, Milunsky A, Nadol JB. Otopathology in a case of type I Waardenburg's syndrome. Ann Otol Rhinol Laryngol. 2001 Sep; 110(9):875-82.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 11558766

Lebo RV, Ikuta T, Milunsky JM, Milunsky A. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clin Genet. 2001 Jun; 59(6):406-17. PMID: 11453972

Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001 May 15; 100(4):311-4.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 11343322

Wu H, Zhang S, Qiu W, Zhang G, Xia Q, Xiao C, Huang X, Huang M, Agen P, Fan T, Yang J, Milunsky A. Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta. 2001 Mar 19; 1518(1-2):190-3. PMID: 11267678

Milunsky A. Genetic Disorders and the Jewish People. JUDEO MEDICAL JOURNAL. 2001; (1):50-55.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Mutation analysis in Rett syndrome. Genet Test. 2001; 5(4):321-5.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 11960578

Moore LL, Singer MR, Bradlee ML, Rothman KJ, Milunsky A. A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology. 2000 Nov; 11(6):689-94.View Related Profiles.

Milunsky, Aubrey
Rothman, Kenneth
Moore, Lynn

PMID: 11055631

Milunsky A, Carmella SG, Ye M, Hecht SS. A tobacco-specific carcinogen in the fetus. Prenat Diagn. 2000 Apr; 20(4):307-10. PMID: 10740203

Moore LL, Bradlee ML, Singer MR, Rothman KJ, Milunsky A. A Prospective Study of Folate Intake at Low to Moderate Doses and the Risk of Neural Tube Defects. EPIDEMIOL. 2000; 11(6):689-694.

Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT. A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Genet. 1999 Jul; 56(1):82-5.View Related Profiles.

DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton

PMID: 10466422

Milunsky J, Huang XL, Wyandt HE, Milunsky A. Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet. 1999 Jun; 55(6):455-60. PMID: 10450863

Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE. Duty to re-contact. Genet Med. 1999 May-Jun; 1(4):171-2. PMID: 11258354

Milunsky JM, Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. Reece EA, Hobbins JC (Eds.) Medicine of the Fetus and Mother. Lippincott-Raven. Philadelphia. 1999.

Milunsky J, Huang XL, Baldwin CT, Farah MG, Milunsky A. Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes). Cancer Genet Cytogenet. 1998 Oct 15; 106(2):173-6.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 9797786

Milunsky J, Maher T, Lebo R, Milunsky A. Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins. Fetal Diagn Ther. 1998 May-Jun; 13(3):167-8. PMID: 9708440

DeStefano AL, Cupples LA, Arnos KS, Asher JH, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet. 1998 May; 102(5):499-506.View Related Profiles.

DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
Cupples, L
Farrer, Lindsay

PMID: 9654197

Milunsky J, DeStefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A. Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet. 1997 Oct 3; 72(1):66-70.View Related Profiles.

DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton

PMID: 9295078

Milunsky JM, Genest DR, Milunsky A. Renal tubular dysgenesis with microcephaly. Pediatr Nephrol. 1997 Aug; 11(4):494-6. PMID: 9260254

Milunsky JM, Milunsky A. Genetic counseling in perinatal medicine. Obstet Gynecol Clin North Am. 1997 Mar; 24(1):1-17. PMID: 9086515

Haddad BR, Huang Y, Wyandt H, Milunsky A. Evaluation of satellited Y chromosome (Yqs) detected during prenatal diagnosis. Acta Obstet Gynecol Scand. 1997 Mar; 76(3):281-3. PMID: 9093147

Haddad BR, Lin AE, Wyandt H, Milunsky A. Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet. 1996 Dec; 33(12):1045-7. PMID: 9004142; PMCID: PMC1050821

Milunsky A. Congenital defects, folic-acid, and homoeobox genes. Lancet. 1996 Aug 17; 348(9025):419-20. PMID: 8709776

Colin AA, Sawyer SM, Mickle JE, Oates RD, Milunsky A, Amos JA. Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest. 1996 Aug; 110(2):440-5.View Related Profiles.

Milunsky, Aubrey
Oates, Robert

PMID: 8697849

Milunsky JM, Wyandt HE, Milunsky A. Familial supernumerary chromosome and malignancy. Cancer Genet Cytogenet. 1996 Jul 15; 89(2):170-2. PMID: 8697427

Milunsky A, Nebiolo L. Maternal serum triple analyte screening and adverse pregnancy outcome. Fetal Diagn Ther. 1996 Jul-Aug; 11(4):249-53. PMID: 8823604

Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal. 1996 Jul; 13(2):43-4.View Related Profiles.

DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
Farrer, Lindsay

PMID: 8880147

Milunsky JM, Milunsky A. Case report: cystic fibrosis and embryonal carcinoma of the testis. Am J Med Sci. 1996 Apr; 311(4):191-2. PMID: 8602651

Rowley JD, Vignon C, Gollin SM, Rosenberg CL, Wyandt HE, Milunsky A. Chromosomal translocations in secondary acute myeloid leukemia. N Engl J Med. 1996 Feb 29; 334(9):601-3. PMID: 8569841

Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet. 1996 Jan 22; 61(3):269-73. PMID: 8741873

Rothman KJ, Moore LL, Singer MR, Nguyen US, Mannino S, Milunsky A. Teratogenicity of high vitamin A intake. N Engl J Med. 1995 Nov 23; 333(21):1369-73.View Related Profiles.

Milunsky, Aubrey
Rothman, Kenneth
Moore, Lynn
Nguyen, Uyen-Sa Duc

PMID: 7477116

Tonk V, Wyandt HE, Osella P, Skare J, Wu BL, Haddad B, Milunsky A. Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin Genet. 1995 Sep; 48(3):151-5. PMID: 8556823

Baldwin CT, Hoth CF, Macina RA, Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet. 1995 Aug 28; 58(2):115-22.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 8533800

Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod. 1995 Jul; 10(7):1728-35.View Related Profiles.

Milunsky, Aubrey
Oates, Robert

PMID: 8582970

Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M, et al. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet. 1995 Jul; 32(7):531-6.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton
Farrer, Lindsay

PMID: 7562965; PMCID: PMC1050545

Farrer LA, Arnos KS, Asher JH, Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, et al. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet. 1994 Oct; 55(4):728-37.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton
Grundfast, Kenneth
Farrer, Lindsay

PMID: 7942851; PMCID: PMC1918288

Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M. Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 1994 Jun; 45(6):281-4.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 7923855

Milunsky A. Ethics, Law and the "New" Genetics: Selected Aspects. Intractable Neurological Disorders: Human Genome Research & Society, Editors: Norio Fujiki & Darryl R.J. Macer. Eubios Ethics Institute. 1994; ps. 249-254.

Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat. 1994; 3(3):205-11.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 8019556

Troxler RF, Offner GD, Jiang JW, Wu BL, Skare JC, Milunsky A, Wyandt HE. Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33. Hum Genet. 1993 Dec; 92(6):563-6.View Related Profiles.

Milunsky, Aubrey
Offner, Gwynneth

PMID: 8262516

Wu BL, Milunsky A, Nelson D, Schmeckpeper B, Porta G, Schlessinger D, Skare J. High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1993 Jul; 17(1):163-70. PMID: 8406447

Milunsky A, Nebiolo LM, Bellet D. Maternal serum screening for chromosome defects: human chorionic gonadotropin versus its free-beta subunit. Fetal Diagn Ther. 1993 Jul-Aug; 8(4):221-4. PMID: 7505085

Skare J, Wu BL, Madan S, Pulijaal V, Purtilo D, Haber D, Nelson D, Sylla B, Grierson H, Nitowsky H, et al. Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Genomics. 1993 Apr; 16(1):254-5. PMID: 8387453

Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993 Apr 1; 46(1):72-6. PMID: 7684190

Milunsky A. Commercialization of clinical genetic laboratory services: in whose best interest? Obstet Gynecol. 1993 Apr; 81(4):627-9. PMID: 8459981

Milunsky A, Huang X, Amos JA, Herskowitz J, Farrer LA, Wyandt HE. 46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies. Am J Med Genet. 1993 Mar 1; 45(5):589-93.View Related Profiles.

Milunsky, Aubrey
Herskowitz, Joel
Farrer, Lindsay

PMID: 8096117

Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet. 1993 Mar; 52(3):455-62.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 8447316; PMCID: PMC1682157

Milunsky A, Huang X, Amos JA, Herskowitz J. Farrer LA, Wyandt HE. 46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies. AM J MED GENET. 1993; (45):589-593.

Wu BL, Milunsky A, Wyandt H, Hoth C, Baldwin C, Skare J. In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet. 1993; 63(1):29-32.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 8449034

Milunsky A. The "new" genetics: from research to reality. Suffolk Univ Law Rev. 1993; 27(4):1307-25. PMID: 11657040

Handelin B, Wachbroit R, Billings P, Scheck B, Reilly P, Milunsky A. Genetic testing and individual rights. Suffolk Univ Law Rev. 1993; 27(4):1477-97. PMID: 11657046

Tonk V, Wyandt HE, Michand L, Milunsky A. Deletion of 15q12 in Angelman syndrome: report of 3 new cases. Clin Genet. 1992 Nov; 42(5):229-33. PMID: 1486699

Tonk V, Osella P, Delasmorenas A, Wyandt HE, Milunsky A. Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. Cancer Genet Cytogenet. 1992 Nov; 64(1):65-8. PMID: 1458452

Milunsky A. Folic acid and neural tube defect avoidance. Prenat Diagn. 1992 Oct; 12(10):856-9. PMID: 1475260

Milunsky A, Morris JS, Jick H, Rothman KJ, Ulcickas M, Jick SS, Shoukimas P, Willett W. Maternal zinc and fetal neural tube defects. Teratology. 1992 Oct; 46(4):341-8.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel
Rothman, Kenneth
Yood, Marianne
Jick, Susan

PMID: 1384155

Milunsky A. "Prolife" perinatologist. N Engl J Med. 1992 Sep 10; 327(11):813; author reply 813-4. PMID: 1501666

Skare J, Madan S, Glaser J, Purtilo D, Nitowsky H, Pulijaal V, Milunsky A. First prenatal diagnosis of X-linked lymphoproliferative disease. Am J Med Genet. 1992 Sep 1; 44(1):79-81. PMID: 1355632

Milunsky A, Ulcickas M, Rothman KJ, Willett W, Jick SS, Jick H. Maternal heat exposure and neural tube defects. JAMA. 1992 Aug 19; 268(7):882-5.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel
Rothman, Kenneth
Yood, Marianne
Jick, Susan

PMID: 1640616

Marks JL, Wyandt HE, Beazley RM, Milunsky JM, Sheahan K, Milunsky A. Cytogenetic studies of an adrenal cortical carcinoma. Cancer Genet Cytogenet. 1992 Jul 1; 61(1):96-8.View Related Profiles.

Milunsky, Aubrey
Sheahan, Kieran
Beazley, Robert

PMID: 1638487

Dean M, White MB, Gerrard B, Milunsky A, Amos J. A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics. 1992 May; 13(1):235-6. PMID: 1374361

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet. 1992 May; 50(5):902-13.View Related Profiles.

Milunsky, Aubrey
Grundfast, Kenneth
Farrer, Lindsay

PMID: 1349198; PMCID: PMC1682585

Skinner M, Harding J, Skare I, Jones LA, Cohen AS, Milunsky A, Skare J. A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84. Ophthalmology. 1992 Apr; 99(4):503-8.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 1350083

Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992 Apr 1; 267(13):1794-7.View Related Profiles.

Milunsky, Aubrey
Oates, Robert
Maher, Thomas

PMID: 1545465

Osella P, Carlson A, Wyandt H, Milunsky A. Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event. Cancer Genet Cytogenet. 1992 Mar; 59(1):73-8. PMID: 1555195

Milunsky A. Threatened survival of academic-based genetic laboratory services. Am J Hum Genet. 1992 Mar; 50(3):643-5. PMID: 1290476; PMCID: PMC1684284

Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature. 1992 Feb 13; 355(6361):637-8.View Related Profiles.

Milunsky, Aubrey
Baldwin, Clinton

PMID: 1347149

Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 1992 Feb; 41(2):70-3.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 1544214

Milunsky J and Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. Clinical Obstetrics. E.A. Reece and J.C. Hobbins (Editors). Lippincott-Raven. Philadelphia. 1992.
Milunsky A. Genetic counseling in prenatal and perinatal medicine. Medicine of the Fetus and Its Mother. Reece EA, Hobbins J, Mahoney MJ, Petrie R (Eds). JB Lippincott Company. 1992.
Milunsky A, Nebiolo L. Screening for chromosome defects in the first and second trimesters of pregnancy. Elias S, Simpson JL (Eds). Contemporary Management in Obstetrics and Gynecology. 1992; pp.75-85.

Osella P, Wyandt H, Vosburgh E, Milunsky A. Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia. Cancer Genet Cytogenet. 1991 Dec; 57(2):201-7. PMID: 1756499

Shulman LP, Elias S, Andersen RN, Phillips OP, Milunsky A, Holbrook KA, Smith LT, Fine JD, Simpson JL. Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant. Prenat Diagn. 1991 Nov; 11(11):813-8. PMID: 1721712

Wyandt HE, Bugeau-Michaud L, Skare JC, Milunsky A. Partial duplication of Xp: a case report and review of previously reported cases. Am J Med Genet. 1991 Sep 1; 40(3):280-3. PMID: 1951429

Nebiolo LM, Adams WB, Miller SL, Milunsky A. Maternal serum human chorionic gonadotropin levels in twin pregnancies. Prenat Diagn. 1991 Jul; 11(7):463-6. PMID: 1754563

Jones LA, Skare JC, Harding JA, Cohen AS, Milunsky A, Skinner M. Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. Am J Hum Genet. 1991 May; 48(5):979-82.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 1850191; PMCID: PMC1683065

Milunsky JM, Skare JC, Milunsky A. Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes. Am J Med Sci. 1991 Apr; 301(4):231-7. PMID: 1672791

Bejjani B, Finn P, Milunsky A, Amos J. The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD). Clin Genet. 1991 Apr; 39(4):245-52. PMID: 2070545

Milunsky A, Skare JC, Milunsky JM, Maher TA, Amos JA. Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes. Am J Obstet Gynecol. 1991 Mar; 164(3):751-5.View Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 2003536

Skinner M, Libbey CA, Benson MD, Skare JC, Milunsky A, Cohen AS. Variant transthyretin (tyrosine 77) in a United States family of German/English ancestry with familial amyloid polyneuropathy. Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders. pp.103-06;1991. Variant transthyretin (tyrosine 77) in a United States family of German/English ancestry with familial amyloid polyneuropathy. Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders. 1991; pp.103-06.

Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M. A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 1991 Jan; 39(1):6-12.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 1997217

Milunsky A. Ethical and selected medical aspects of preimplantation genetic diagnosis. In: Preimplantation Genetics, Verlinsky Y. and Kuliev A. (Eds), Plenum Press, 1991. Ethical and selected medical aspects of preimplantation genetic diagnosis. Preimplantation Genetics, Verlinsky Y. and Kuliev A. (Eds). Plenum Press. 1991.

Milunsky A, Derby LE, Jick H. Ovulation induction and neural tube defects. Teratology. 1990 Nov; 42(5):467.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel

PMID: 2278022

Milunsky JM, Lee VW, Siegel BS, Milunsky A. Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet. 1990 Nov; 37(3):371-4.View Related Profiles.

Milunsky, Aubrey
Siegel, Benjamin

PMID: 2260568

Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, Skinner M. Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet. 1990 Nov; 86(1):89-90.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 2174830

Nebiolo L, Ozturk M, Brambati B, Miller S, Wands J, Milunsky A. First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn. 1990 Sep; 10(9):575-81. PMID: 1702539

Wyandt HE, Maher T, Fisher NL, Patil SR, Osella P, Luthardt FW, Kawada C, Williamson R, Milunsky A. Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn. 1990 Sep; 10(9):569-74. PMID: 2267235

Skare J, Drwinga H, Wyandt H, vanderSpek J, Troxler R, Milunsky A. Interstitial deletion involving most of Yq. Am J Med Genet. 1990 Aug; 36(4):394-7. PMID: 2389795

Ozturk M, Milunsky A, Brambati B, Sachs ES, Miller SL, Wands JR. Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. Am J Med Genet. 1990 Aug; 36(4):480-3. PMID: 2389806

Skare JC, Saraiva MM, Alves IL, Skare IB, Milunsky A, Cohen AS, Skinner M. A new mutation in an Italian family associated with familial amyloidotic polyneuropathy. Amyloid and Amyloidosis (Proc Internatl Cong on Amyloidosis). 1990; pp.611-14.

Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, Willett W. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA. 1989 Nov 24; 262(20):2847-52.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel
Rothman, Kenneth
Jick, Susan

PMID: 2478730

Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, Skinner M. A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1989 Nov 15; 164(3):1240-6.View Related Profiles.

Milunsky, Aubrey
Skinner, Martha

PMID: 2590199

Wallis J, Shaw J, Wilkes D, Farrall M, Williamson R, Chamberlain S, Skare JC, Milunsky A. Prenatal diagnosis of Friedreich ataxia. Am J Med Genet. 1989 Nov; 34(3):458-61. PMID: 2574535

vanderSpek JC, Wyandt HE, Skare JC, Milunsky A, Oppenheim FG, Troxler RF. Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet. 1989 Sep; 45(3):381-7.View Related Profiles.

Milunsky, Aubrey
Oppenheim, Frank

PMID: 2773933; PMCID: PMC1683406

Milunsky A, Jick SS, Bruell CL, MacLaughlin DS, Tsung YK, Jick H, Rothman KJ, Willett W. Predictive values, relative risks, and overall benefits of high and low maternal serum alpha-fetoprotein screening in singleton pregnancies: new epidemiologic data. Am J Obstet Gynecol. 1989 Aug; 161(2):291-7.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel
Rothman, Kenneth
Jick, Susan

PMID: 2475017

Wyandt HE, Grierson HL, Sanger WG, Skare JC, Milunsky A, Purtilo DT. Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. Am J Med Genet. 1989 Jul; 33(3):426-30. PMID: 2801783

Skare JC, Sullivan JL, Milunsky A. Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet. 1989 Jul; 82(4):349-53. PMID: 2567695

Skare JC, Grierson HL, Sullivan JL, Nussbaum RL, Purtilo DT, Sylla BS, Lenoir GM, Reilly DS, White BN, Milunsky A. Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet. 1989 Jul; 82(4):354-8. PMID: 2567696

Milunsky JM, Wyandt HE, Milunsky A. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet. 1989 Jul; 33(3):364-8. PMID: 2679090

Skare J, Milunsky J, Milunsky A. L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12). Nucleic Acids Res. 1989 Jun 26; 17(12):4909. PMID: 2568617; PMCID: PMC318072

Ozturk M, Brown N, Milunsky A, Wands J. Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum. J Clin Endocrinol Metab. 1988 Dec; 67(6):1117-21. PMID: 2461384

Milunsky A. Reply to nightingale and meister. Am J Hum Genet. 1988 Dec; 43(6):980. PMID: 17948597

Milunsky A, Wands J, Brambati B, Bonacchi I, Currie K. First-trimester maternal serum alpha-fetoprotein screening for chromosome defects. Am J Obstet Gynecol. 1988 Nov; 159(5):1209-13. PMID: 2461080

Milunsky A. Harvesting organs for transplantation from dying anencephalic infants. Pediatrics. 1988 Aug; 82(2):274-6. PMID: 3041365

Skare JC, Milunsky A, Byron KS, Sullivan JL. Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1987 Apr; 84(7):2015-8. PMID: 2882515; PMCID: PMC304574

Milunsky A. Maternal serum alpha-fetoprotein screening: Current perspectives. Frontiers in Genetic Medicine, Kaback MM, Shapiro LJ (Eds). Ross Laboratories. Ohio. 1987.
Milunsky A. Genetics for the Primary Care Physician. Textbook of Primary Care, Noble J. (Edit). Little, Brown & Company. Boston. 1987; p53.

Milunsky A, Yeransian J. Maternal serum alpha-fetoprotein screening and choriocarcinoma. Am J Obstet Gynecol. 1986 Dec; 155(6):1362. PMID: 2431620

Davis RO, Cosper P, Huddleston JF, Bradley EL, Finley SC, Finley WH, Milunsky A. Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol. 1985 Nov 1; 153(5):541-4. PMID: 2414991

Milunsky A, Haddow JE. Cautions about maternal serum alpha-fetoprotein screening. N Engl J Med. 1985 Sep 12; 313(11):694. PMID: 2410789

Milunsky A. An important clinical approach in detecting the fragile X syndrome. Am J Public Health. 1985 Jul; 75(7):715-6. PMID: 4003647; PMCID: PMC1646297

Aselton P, Jick H, Milunsky A, Hunter JR, Stergachis A. First-trimester drug use and congenital disorders. Obstet Gynecol. 1985 Apr; 65(4):451-5.View Related Profiles.

Milunsky, Aubrey
Jick, Hershel

PMID: 3982720

Milunsky A. Genetics and the Law. BioEssays. 1985; (2):36.

Verp MS, Milunsky A, Simpson JL, Graham A, Sabbagha R. Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele. Am J Med Genet. 1984 Dec; 19(4):651-2. PMID: 6083726

Milunsky A, Alpert E. Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA. 1984 Sep 21; 252(11):1438-42. PMID: 6206249

Haddow JE, Milunsky A. Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med. 1984 Jun 21; 310(25):1669-70. PMID: 6203037

Milunsky A. Contemporary Approaches to Genetic Disease. Encyclopedia Britannica, Inc. Chicago. 1984.

Wallingford JC, Milunsky A, Underwood BA. Vitamin A and retinol-binding protein in amniotic fluid. Am J Clin Nutr. 1983 Sep; 38(3):377-81. PMID: 6684391

Milunsky A. Lethal congenital anomalies. JAMA. 1983 Jul 22-29; 250(4):517-8. PMID: 6864953

Milunsky A. Genetics, law and obstetric practice. Br J Obstet Gynaecol. 1983 Jun; 90(6):497-9. PMID: 6860593

Ehrlich S, Bustos T, Paika IJ, Milunsky A. Brief clinical report: duplication 18q syndrome. Am J Med Genet. 1983 Jun; 15(2):261-3. PMID: 6881199

Milunsky A. Routine amniotic fluid alpha-fetoprotein assays. Am J Med Genet. 1983 Apr; 14(4):787-9. PMID: 6189396

Milunsky A. Genetic Aspects of Mental Retardation: From Prevention to Cure. Curative Aspects of Mental Retardation. Menolascino FS, Newman R, Stark JA (Eds),. Brookes Publishing Co. Baltimore. 1983; p15-25.
Milunsky A. Fetal Abnormalities: Detection, Counseling, and Dilemmas. Defining Human Life: Medical, Legal and Ethical Implications. Shaw MW, Doudera AE (Eds). AUPHA Press. Ann Arbor, Michigan. 1983; Chapter 4, p62-72.

Milunsky A. Fetal malformations and environmental influences. A perspective. Am J Forensic Med Pathol. 1982 Dec; 3(4):329-34. PMID: 7165022

Milunsky A, Glantz LH. Abortion legislation. Implications for medicine. JAMA. 1982 Aug 20; 248(7):833-4.View Related Profiles.

Milunsky, Aubrey
Glantz, Leonard

PMID: 7097944

Milunsky A, Alpert E, Kitzmiller JL, Younger MD, Neff RK. Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women. Am J Obstet Gynecol. 1982 Apr 15; 142(8):1030-2. PMID: 6176126

Milunsky A. Selected problems and quality assurance. XI INTERNATL CONGRESS OF CLINICAL CHEMISTRY. Kaiser E, Gabl F, Muller MM, Bayer PM (Eds.). Walter DeGruyter. Hawthorne, NY. 1982; p605-611.

Milunsky A, Sapirstein VS. Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol. 1982 Jan; 59(1):1-5. PMID: 6176922

Milunsky A, Alpert E, Yeransian J, Shapiro P. Normal serum alpha-fetoprotein levels during mid-pregnancy. N Engl J Med. 1981 Apr 16; 304(16):974. PMID: 6163081

Milunsky A. Prudence or Jurisprudence: Selected Medicolegal, Ethical and Social Aspects of Genetic Medicine. Genetic Issues in Pediatric and Obstetric Practice (MM Kaback, Edit). Year Book Medical Publishers. Chicago. 1981; p569.

Milunsky A. Prenatal diagnosis of genetic disorders. Am J Med. 1981 Jan; 70(1):7-8. PMID: 7006394

Milunsky A. Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies. JAMA. 1980 Dec 19; 244(24):2731-5. PMID: 6160265

Morin PR, Potier M, Dallaire L, Melançon SB, Milunsky A. Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin Genet. 1980 Sep; 18(3):217-22. PMID: 7438502

Bladon MT, Milunsky A. Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures. Clin Chim Acta. 1980 Aug 19; 105(3):325-34. PMID: 6250742

Zeisel SH, Milunsky A, Blusztajn JK. Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies. Am J Obstet Gynecol. 1980 Jun 15; 137(4):481-5.View Related Profiles.

Milunsky, Aubrey
Blusztajn, Jan

PMID: 6155784

Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol. 1980 Jun; 7(6):542-9. PMID: 7436359

Tsung YK, Milunsky A, Alpert E. Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med. 1980 Jan 17; 302(3):180. PMID: 6153120

Milunsky, A. Prenatal Genetic Diagnosis. PEDIATR. 1980; (1):283.

Milunsky A, Alpert E, Neff RK, Frigoletto FD. Prenatal diagnosis of neural tube defects. IV. Maternal serum alpha-fetoprotein screening. Obstet Gynecol. 1980 Jan; 55(1):60-6. PMID: 6153240

Tsung YK, Milunsky A, Alpert E. Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein. J Immunol Methods. 1980; 39(4):363-8. PMID: 6161969

Milunsky A, Wald N, Brock DJH, Dallaire L, Davison R, Ferguson-Smith MA, Fuhrmann W, Haddow J., Macri J, Winsor E. Prenatal screening and diagnosis of open neural tube defects. PRENATAL DIAGNOSIS Special Issue. 1980; p23.

Milunsky A, Tsung YK. Cell culture studies in progeria. I. Establishment and partial characterization of a lymphoblastoid cell line. Mech Ageing Dev. 1979 Oct; 11(3):185-90. PMID: 513854

Milunsky A, Blusztajn JK, Zeisel SH. Amniotic-fluid total cholinesterase and neural-tube defects. Lancet. 1979 Jul 7; 2(8132):36.View Related Profiles.

Milunsky, Aubrey
Blusztajn, Jan

PMID: 87905

Milunsky A, Bender CS. Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med. 1979 Jul 5; 301(1):47-8. PMID: 449912

Lott IT, Dipaolo R, Raghavan SS, Clopath P, Milunsky A, Robertson WC, kanfer JN. Abnormal copper metabolism in Menke's steely-hair syndrome. Pediatr Res. 1979 Jul; 13(7):845-50. PMID: 481958

Milunsky A. Alpha-fetoprotein and the prenatal detection of neural tube defects. Am J Public Health. 1979 Jun; 69(6):552-3. PMID: 87133; PMCID: PMC1618980

Milunsky A. Hazards of amniocentesis. Lancet. 1979 Mar 10; 1(8115):546-7. PMID: 85120

Milunsky A. The role of antenatal diagnosis in the prevention of birth defects caused by environmental mutagens. Genetic Damage in Man Caused by Environmental Agents. Edited by K Berg. Academic Press. New York. 1979.

Thompson M, Milunsky A. Policy analysis for prenatal genetic diagnosis. Public Policy. 1979; 27(1):25-48. PMID: 10308835

Bladon MT, Milunsky A. Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease. Clin Genet. 1978 Dec; 14(6):359-66. PMID: 215359

Milunsky A, Neff RK. A.F.P. in amniotic fluid and serum. Lancet. 1978 May 20; 1(8073):1098. PMID: 77393

Kawamura N, Moser AB, Moser HW, Ogino T, Suzuki K, Schaumburg H, Milunsky A, Murphy J, Kishimoto Y. High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun. 1978 May 15; 82(1):114-20. PMID: 666828

Jungalwala FB, Milunsky A. High performance liquid chromatography for the detection of homozygotes and heterozygotes of Niemann-Pick disease. Pediatr Res. 1978 May; 12(5):655-9. PMID: 662470

Milunsky A, Alpert E. Maternal serum AFP secreening. N Engl J Med. 1978 Mar 30; 298(13):738-9. PMID: 75505

Kimball ME, Milunsky A. Test for elevated AFP levels. Am J Obstet Gynecol. 1978 Jan 15; 130(2):247-8. PMID: 74209

Milunsky A. Prenatal detection of neural tube defects. Experience with alpha-fetoprotein assays of amniotic fluid. Proceedings of a Workshop on Alpha-fetoprotein, edited by BF Crandall and MAB Brazier. Academic Press. New York. 1978; p163.
Milunsky A. Genetic counseling in family practice. J CONT EDUCAT FAM MED. 1978; 24(10).

Milunsky A. Prenatal detection of neural tube defects: experience with alpha-fetoprotein assays of amniotic fluid. UCLA Forum Med Sci. 1978; 20:163-8. PMID: 80857

Milunsky A. Prenatal diagnosis of hereditary disorders. Encyclopedia of Bioethics. Edited by WT Reich. Free Press, MacMillan. New York. 1978.
Milunsky A. The prenatal detection of neural tube defects. Considerations for implementation of a national maternal serum alpha-fetoprotein screening program. Proceedings of an international summit on the prevention of mental retardation from biomedical causes, HEW Public No. (HDS) 78-21023. U.S. Dept. HEW. Washington, D.C. 1978.

Vison PC, Goldenberg RL, Davis RO, Finley SC, Milunsky A, Chase TM, Nagendran SS. Fetal bladder-neck obstruction and elevated amniotic-fluid alpha fetoprotein. N Engl J Med. 1977 Dec 15; 297(24):1351. PMID: 72360

Neufeld EF, Liebaers I, Epstein CJ, Yatziv S, Milunsky A, Migeon BR. The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet. 1977 Sep; 29(5):455-61. PMID: 409284; PMCID: PMC1685419

Kimball ME, Milunsky A, Giannusa P, Carvalho AC. Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects. Am J Obstet Gynecol. 1977 Jun 1; 128(3):294-9. PMID: 67808

Milunsky A, Tulchinsky D. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1977 May; 59(5):768-70. PMID: 558577

Milunsky A, Alpert E, Frigoletto FD, Driscoll SG, McCluskey RT, Colvin RB. Prenatal diagnosis of the congenital nephrotic syndrome. Pediatrics. 1977 May; 59(5):770-3. PMID: 404622

Kimball ME, Milunsky A, Alpert E. Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol. 1977 May; 49(5):532-6. PMID: 66652

Milunsky A. Prenatal detection of neural tube defects: false positive and negative results. Pediatrics. 1977 May; 59(5):782-3. PMID: 323812

Milunsky A. Prenatal diagnosis of neural tube defects. JAMA. 1977 Apr 25; 237(17):1824. PMID: 66333

Milunsky A. Prenatal genetic diagnosis: Risks and needs. Genetic Counseling. Edited by H Lubs and F DeLaCruz. Raven Press. New York. 1977.
Milunsky A. Causes of abnormalities in newborns. Diseases of the Newborn. Edited by AJ Schaffer and ME Avery. WB Saunders Company. Philadelphia. 1977; Chapter 5, p71.

Milunsky A. Genetic counseling, the ophthalmologist and the law. Metab Ophthalmol. 1977; 1(2):71. PMID: 11664949

Milunsky A. Antenatal diagnosis of genetic disorders. Diseases of the Newborn. Edited by AJ Schaffer and ME Avery. WB Saunders Company. Philadelphia. 1977; Chapter 2, p29.
Milunsky A. The current status of prenatal genetic diagnosis. PAEDIATRICIAN. 1977; (6):341.

Antonowicz I, Milunsky A, Lebenthal E, Shwachman H. Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine. Biol Neonate. 1977; 32(5-6):280-9. PMID: 346069

Sandstrom MM, Milunsky A. Prenatal genetic diagnosis. Am Fam Physician. 1977 Jan; 15(1):121-8. PMID: 64110

Milunsky A, Atkins L. The frequency of chromosomal abnormalities diagnosed prenatally. Population Cytogenetics. Edited by EB Hook and IH Porter. Academic Press. New York. 1977; p11.
Milunsky A. Amniotic fluid alpha-fetoprotein assay for neural tube defects: Practice, Problems and Pitfalls. EXERPTA MEDICA INTERNATL CONG SERV NO. 411. Mexico City. 1976; P.176.

Lott IT, Dulaney JT, Milunsky A, Hoefnagel D, Moser HW. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr. 1976 Sep; 89(3):438-40. PMID: 8599

Milunsky A. Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med. 1976 Aug 12; 295(7):377-80. PMID: 59313

Milunsky A, Kimball ME. Alpha-fetoprotein assay in all amniocentesis samples. Lancet. 1976 Jul 24; 2(7978):209. PMID: 73840

Milunsky A, Alpert E. Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA. N Engl J Med. 1976 Jul 15; 295(3):168-9. PMID: 58382

Dulaney JT, Milunsky A, Sidbury JB, Hobolth N, Moser HW. Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr. 1976 Jul; 89(1):59-61. PMID: 932904

Milunsky A, Alpert E. Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol. 1976 Jul; 48(1):1-5. PMID: 59327

Milunsky A, Alpert E. Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol. 1976 Jul; 48(1):6-12. PMID: 59328

Dulaney JT, Milunsky A, Moser HW. Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. Clin Chim Acta. 1976 Jun 1; 69(2):305-10. PMID: 819189

Yavin E, Milunsky A, DeLong GR, Nash AH, Kolodny EH. Cholesterol metabolism in cultured fibroblasts in adrenoleukodystrophy. Pediatr Res. 1976 May; 10(5):540-5. PMID: 934726

Milunsky A, Atkins L. Letter: Prenatal diagnois of chromosomal mosaicism. J Pediatr. 1976 Feb; 88(2):365-6. PMID: 1249713

Milunsky A. Genetic counseling in obstetric practice. CONTEMP OB/GYN. 1976; 8(105).
Milunsky, A. The NICHD National Registry for Amniocentesis Study Group: Mid-Trimester Amniocentesis for Prenatal Diagnosis. JAMA. 1976; 236(1471).

Dulaney J, Moser HW, Sidbury J, Milunsky A. The biochemical defect in Farber's disease. Adv Exp Med Biol. 1976; 68:403-11. PMID: 937114

Frigoletto FD, Nathan DG, Chang J, Milunsky A, Innis R. An experience with fetal visualization and fetal blood sampling. Intrauterine Fetal Visualization: A Multidisciplinary Approach. Edited by MM Kaback and C Valenti. American Elsevier Publishing Company, Inc. New York. 1976; p162.

Milunsky A. Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med. 1975 Oct 30; 293(18):932-3. PMID: 1177993

Weinberg AG, Milunsky A, Harrod MJ. Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet. 1975 Sep 13; 2(7933):496. PMID: 51299

Milunsky A, Macri JN, Weiss RR, Alpert E, McIsaac DG, Joshi MS. Prenatal detection of neural tube defects. Comparison between alpha-fetoprotein and beta-trace protein assays. Am J Obstet Gynecol. 1975 Jun 1; 122(3):313-5. PMID: 48343

Milunsky A, Reilly P. The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders. Am J Law Med. 1975 Mar; 1(1):71-88. PMID: 1234716

Milunsky A. Prenatal detection of neural tube defects by alpha-fetoprotein. CONTEMPORARY OB/GYN. 1975; (6):59.
Milunsky A. Advisory Committee Workshop on Chromosome Registries. Human Cytogenetic Registries. HUMANGENETIK. 1975; (29):177.

Milunsky A, Atkins L. Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA. 1974 Oct 14; 230(2):232-5. PMID: 4479263

Van Vunakis H, Langone JJ, Milunsky A. Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy. Am J Obstet Gynecol. 1974 Sep; 120(1):64-6. PMID: 4843750

Milunsky A, Alpert E. The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr. 1974 Jun; 84(6):889-93. PMID: 4207877

Milunsky A, Alpert E, Charles D. Amniotic fluid alpha-fetoprotein in anencephaly. Obstet Gynecol. 1974 Apr; 43(4):592-4. PMID: 4206101

Milunsky A. Editorial: Hereditary eye disease and prenatal diagnosis. Arch Ophthalmol. 1974 Mar; 91(3):169. PMID: 4205504

Milunsky A. Prenatal diagnosis of genetic abnormalities. Clin Perinatol. 1974 Mar; 1(1):25-32. PMID: 4377784

Atkins L, Milunsky A, Shahood JM. Prenatal diagnosis: detailed chromosomal analysis in 500 cases. Clin Genet. 1974; 6(4):317-22. PMID: 4216438

Milunsky A. Letter: Prenatal diagnosis of Tay-Sachs disease. Lancet. 1973 Dec 22; 2(7843):1442. PMID: 4128752

Littlefield JW, Milunsky A, Atkins L. An overview of prenatal genetic diagnosis. PROC 4TH INTERNATL CONF CONG MALF. Vienna. 1973.

Milunsky A. Sex-determining genes and the Y-chromosome. N Engl J Med. 1973 Mar 15; 288(11):577-8. PMID: 4685457

Kolodny EH, Milunsky A, Sheng GS. Gm2-gangliosidosis: studies in cultured fibroblasts. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):130-5. PMID: 4611525

Milunsky A, Neufeld EF. The Hunter syndrome in a 46 XX girl. N Engl J Med. 1973 Jan 11; 288(2):106-7. PMID: 4629273

Littlefield JW, Milunsky A, Jacoby LB. Prenatal Genetic Diagnosis: Status and Problems. Ethical Issues in Human Genetics, Genetic Counseling and the Use of Genetic Knowledge. Edited by B. Hilton, D. Callahan, M. Harris, P. Condliffe and B. Berkley. Plenum Press. New York. 1973.
Milunsky A. Prenatal genetic diagnosis and dermatologic disorders. PROG DERMATOL. 1973; 7(1).

Milunsky A, Spielvogel C, Kanfer JN. Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II. 1972 Nov 22; 11(22):1101-7. PMID: 4663811

Milunsky A, Atkins L, Littlefield JW. Amniocentesis for prenatal genetic studies. Obstet Gynecol. 1972 Jul; 40(1):104-8. PMID: 4261531

Jacoby LB, Littlefield JW, Milunsky A, Shih VE, Wilroy RS. A microassay for argininosuccinase in cultured cells. Am J Hum Genet. 1972 May; 24(3):321-4. PMID: 5028970; PMCID: PMC1762267

Milunsky A, Littlefield JW. The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med. 1972; 23:57-76. PMID: 4264784

Kanfer JN, Spielvogel C. Milunsky A. The effect of p-Chloromercuriophenylsulfonate on skin fibroblast acid hydrolases. LIFE SCI. 1972; 11(191).

Milunsky A, Atkins L, Littlefield JW. Polyploidy in prenatal genetic diagnosis. J Pediatr. 1971 Aug; 79(2):303-5. PMID: 5560056

Littlefield JW, Milunsky A, Jacoby LB. Prenatal Genetic Diagnosis: Present and Future Developments. PROC 4th INTERNATNL CONG HUM GENET. Paris. 1971.

Milunsky A, Bray GA, Londono J, Loridan L. Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis. Am J Dis Child. 1971 Jan; 121(1):15-9. PMID: 5539808

Milunsky A, Littlefield JW, Kanvfer JN, Kolodny EH, Shih VE, Atkins L. Prenatal genetic diagnosis. 3. N Engl J Med. 1970 Dec 31; 283(27):1498-504. PMID: 4992307

Milunsky A, Littlefield JW, Kanfer JN, Kolodny EH, Shih VE, Atkins L. Prenatal genetic diagnosis (second of three parts). N Engl J Med. 1970 Dec 24; 283(26):1441-7. PMID: 4098222

Milunsky A, Littlefield JW, Kanfer JN, Kolodny EH, Shih VE, Atkins L. Prenatal genetic diagnosis. I. N Engl J Med. 1970 Dec 17; 283(25):1370-81. PMID: 4921307

Milunsky A, Littlefield JW, Atkins L. Tetraploidy in amniotic-fluid cells. Lancet. 1970 Nov 7; 2(7680):979. PMID: 4097615

Milunsky A, Hackley BM, Halstead JA. Plasma, erythrocyte and leucocyte zinc levels in Down's syndrome. J Ment Defic Res. 1970 Jun; 14(2):99-105. PMID: 4254087

Milunsky A. Glucose intolerance in the parents of children with Down's syndrome. Am J Ment Defic. 1970 Jan; 74(4):475-8. PMID: 4244842

Milunsky A. Cerebral gigantism. Current Pediatric Therapy. Edited by SS Gellis. 1970; p. 101.

Milunsky A, Littlefield JW. Diagnostic limitations of metachromasia. N Engl J Med. 1969 Nov 13; 281(20):1128-9. PMID: 4186418

Milunsky A. Down's syndrome and cystic fibrosis. Pediatrics. 1969 May; 43(5):905-6. PMID: 4238846

Burch PR, Milunsky A. Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet. 1969 Mar 15; 1(7594):554-8. PMID: 4179841

Milunsky A, Fisher JH. Annular pancreas in Down's syndrome. Lancet. 1968 Sep 7; 2(7567):575. PMID: 4175427

Milunsky A. Cystic fibrosis and Down's syndrome. Pediatrics. 1968 Sep; 42(3):501-4. PMID: 4234128

Milunsky A, Neurath PW. Diabetes mellitus in Down's Syndrome. Arch Environ Health. 1968 Sep; 17(3):372-6. PMID: 4233868

Milunsky A. Cerebral gigantism in childhood. Pediatrics. 1968 Jun; 41(6):1149. PMID: 5652927

Milunsky A, Graef JW, Gaynor MF. Methotrexate-induced congenital malformations. J Pediatr. 1968 Jun; 72(6):790-5. PMID: 5652604

Milunsky A, Lowy C, Rubenstein AH, Wright AD. Carbohydrate tolerance, growth hormone and insulin levels in mongolism. Dev Med Child Neurol. 1968 Feb; 10(1):25-31. PMID: 4230643

Milunsky A, Marks V, Samols E. Insulin and glucose response to glucagon in Down's syndrome. Lancet. 1967 Nov 18; 2(7525):1093-4. PMID: 4168549

Milunsky A, Cowie VA, Donoghue EC. Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics. 1967 Sep; 40(3):395-402. PMID: 5298529

Milunsky A, Levin SE. Sclerema neonatorum: a clinical study of 79 cases. S Afr Med J. 1966 Jul 2; 40(27):638-41. PMID: 5949966

Milunsky A, Chitham RG. The Cri du Chat syndrome. J Ment Defic Res. 1966 Jun; 10(2):153-7. PMID: 5962004

Levin SE, Milunsky A. Urea and electrolyte levels in the serum in sclerema neonatorum. J Pediatr. 1965 Nov; 67(5):812-8. PMID: 5845446

Skagen PS, Horn T, Milunsky A, Dejour D, Staergaard B, Kruse HA and Nicolaisen T. Patella alta and trochlea dysplasia associated with abnormal type II collagen and matrix accumulation in chondrocytes – a molecular and morphological study of an Endoplasmic Reticulum Storage Disease (ERSD). (Submitted). Scandinavian Journal of Medicine & Science in Sports.
Montano N, Quadrelli A, Milunsky A, Vaglio A, Quadrelli R. Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a deceased newborn and identification of a new mutation in exon 29 of the CHD7 gene. (Submitted).
Milunsky A. Genes, Genetic Disorders and Neonatal Encephalopathy. Neonatal Encephalopathy and Cerebral Palsy. The American College of Obstetricians and Gynecologists and American Academy of Pediatrics.

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 29 publications over 19 distinct years, with a maximum of 3 publications in 1992 and 2004 and 2010

Bar chart showing 29 publications over 19 distinct years, with a maximum of 3 publications in 1992 and 2004 and 2010

Year	Publications
1980	2
1981	1
1982	1
1983	2
1984	1
1985	1
1987	2
1990	1
1991	2
1992	3
1993	1
1994	1
1999	1
2000	1
2001	1
2004	3
2007	1
2009	1
2010	3

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