Founder and Co-Director, Center for Human Genetics
Medical Genetics
Dr. Aubrey Milunsky, MD
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Aubrey Milunsky practices Medical Genetics. Doctor Aubrey Milunsky, MD is also published. He has 101 publications published. The lastest publication: "Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.'
Publications
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
- CytoGenetic studies of an adrenal cortical carcinoma.
- Maternal heat exposure and neural tube defects.
- Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes.
- First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects.
- Alpha-fetoprotein and acetylcholinesterase are not predictive of Fetal junctional epidermolysis bullosa, Herlitz variant.
- Maternal serum human chorionic gonadotropin levels in twin pregnancies.
- Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia.
- Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.
- Partial duplication of Xp: a case report and review of previously reported cases.
- A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
- Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.
- The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).
- Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.
- Agenesis or hypoplasia of major salivary and lacrimal glands.
- Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection.
- Ovulation induction and neural tube defects.
- Interstitial deletion involving most of Yq.
- Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18.
- Cautions about maternal serum alpha-fetoprotein screening.
- Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome.
- Maternal serum alpha-fetoprotein screening and choriocarcinoma.
- First-trimester maternal serum alpha-fetoprotein screening for chromosome defects.
- Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum.
- Predictive values, relative Risks, and overall benefits of high and low maternal serum alpha-fetoprotein screening in singleton pregnancies: new epidemiologic data.
- Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects.
- Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.
- Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.
- L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12).
- Prenatal diagnosis of Friedreich ataxia.
- A new mutation causing familial amyloidotic polyneuropathy.
- Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
- Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs.
- Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease.
- Mapping the X-linked lymphoproliferative syndrome.
- Harvesting organs for transplantation from dying anencephalic infants.
- First-trimester drug use and congenital disorders.
- An important clinical approach in detecting the fragile X syndrome.
- Tetraploidy in amniotic-fluid cells.
- Prenatal Genetic diagnosis (second of three parts).
- Letter: Prenatal diagnosis of Tay-Sachs disease.
- Insulin and glucose response to glucagon in Down''s syndrome.
- Annular pancreas in Down''s syndrome.
- Early-onset diabetes mellitus in the general and Down''s syndrome populations. Genetics, aetiology, and pathogenesis.
- Diagnostic limitations of metachromasia.
- Editorial: Hereditary eye disease and prenatal diagnosis.
- Amniotic fluid alpha-fetoprotein in anencephaly.
- The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects.
- Prenatal diagnosis: detailed chromosomal analysis in 500 cases.
- Carbohydrate tolerance, growth hormone and insulin levels in mongolism.
- Diabetes mellitus in Down''s Syndrome.
- Cystic fibrosis and Down''s syndrome.
- Down''s syndrome and cystic fibrosis.
- Glucose intolerance in the parents of children with Down''s syndrome.
- Plasma, erythrocyte and leucocyte zinc levels in Down''s syndrome.
- Amniocentesis for prenatal Genetic studies.
- The prenatal diagnosis of inborn errors of metabolism.
- Prenatal diagnosis of Genetic abnormalities.
- Prenatal diagnosis of Genetic disorders. An analysis of experience with 600 cases.
- Gm2-gangliosidosis: studies in cultured fibroblasts.
- The Hunter syndrome in a 46 XX girl.
- Lysosomal enzyme variations in cultured normal skin fibroblasts.
- Sex-determining genes and the Y-chromosome.
- Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy.
- Prenatal Genetic diagnosis. I.
- Prenatal Genetic diagnosis. 3.
- A microassay for argininosuccinase in cultured cells.
- Cerebral gigantism in childhood. A report of two cases and a review of the literature.
- Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis.
- Polyploidy in prenatal Genetic diagnosis.
- Methotrexate-induced congenital malformations.
- Cerebral gigantism in childhood.
- Urea and electrolyte levels in the serum in sclerema neonatorum.
- Sclerema neonatorum: a clinical study of 79 cases.
- The Cri du Chat syndrome.
- Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele.
- Secretion by a hybridoma of antibodies against human alpha-fetoprotein.
- Prenatal diagnosis of neural tube defects. IV. Maternal serum alpha-fetoprotein screening.
- Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies.
- Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies.
- Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein.
- Normal serum alpha-fetoprotein levels during mid-pregnancy.
- Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women.
- Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay.
- Routine amniotic fluid alpha-fetoprotein assays.
- Deregulation of screening for alpha-fetoprotein in pregnancy.
- Results and benefits of a maternal serum alpha-fetoprotein screening program.
- Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures.
- Vitamin A and retinol-binding protein in amniotic fluid.
- Genetics, law and obstetric practice.
- Lethal congenital anomalies.
- Brief clinical report: duplication 18q syndrome.
- Prenatal diagnosis of Genetic disorders.
- Abortion legislation. Implications for medicine.
- Fetal malformations and environmental influences. A perspective.
- Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses.
- Teratogenicity of high vitamin A intake.
- Maternal serum screening for chromosome defects: human chorionic gonadotropin versus its free-beta subunit.
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
- Characterization of a duplication in the terminal band of 4p by molecular cytoGenetics.
Procedures Preformed
- Genetic Counseling Services
- Genetic Screening for Breast Cancer
- Prenatal Diagnosis
Conditions Treated
- Genetic Diseases
- Genetic Fetal Risks
Doctors Specialties
- Clinical Genetics
- Internal Medicine
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of the Witwatersrand
Hospital
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Boston Medical Center
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