A. Milunsky

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Molecular Genetics and Prenatal Diagnosis

J. Milunsky, C. Baldwin, A. Milunsky, 2015, Genetic Disorders and the Fetus.

Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens.

S. Sawyer, J. Amos, A. Colin, 1996, Chest.

Prenatal molecular diagnosis of tuberous sclerosis complex.

J. Milunsky, Masamichi Ito, A. Milunsky, 2009, American journal of obstetrics and gynecology.

Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene

J. Milunsky, Masamichi Ito, R. Jaekle, 2005, Prenatal diagnosis.

Commercialization of clinical genetic laboratory services: in whose best interest?

A. Milunsky, 1993, Obstetrics and gynecology.

Abnormal Copper Metabolism in Menke's Steely-Hair Syndrome

I. Lott, J. Kanfer, A. Milunsky, 1979, Pediatric Research.

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Aubrey Milunsky, Arlene Buller, Franklin Quan, 2006, Genetics in Medicine.

Folate intake and the risk of neural tube defects: an estimation of dose-response.

K. Rothman, M. Singer, M. L. Bradlee, 2003, Epidemiology.

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing

J. Milunsky, C. Baldwin, R. Lifton, 2019, Clinical genetics.

First-trimester drug use and congenital disorders.

A. Stergachis, H. Jick, J. Hunter, 1981, Obstetrics and gynecology.

High Performance Liquid Chromatography for the Detection of Homozygotes and Heterozygotes of Niemann-Pick Disease

A. Milunsky, F. Jungalwala, 1978, Pediatric Research.

High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients.

H. Moser, A. Moser, Y. Kishimoto, 1978, Biochemical and biophysical research communications.

Maternal Serum Screening for Neural Tube and Other Defects

J. Canick, A. Milunsky, 2010 .

A Prospective Study of the Risk of Congenital Defects Associated with Maternal Obesity and Diabetes Mellitus

K. Rothman, M. Singer, L. Moore, 2000, Epidemiology.

Prenatal genetic diagnosis. I.

J. Littlefield, J. Kanfer, V. Shih, 1970, The New England journal of medicine.

Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis.

G. Bray, A. Milunsky, L. Loridan, 1971, American journal of diseases of children.

Prenatal diagnosis of neural tube defects.

A. Milunsky, 1977, JAMA.

An important clinical approach in detecting the fragile X syndrome.

A. Milunsky, 1985, American journal of public health.

Maternal heat exposure and neural tube defects.

W. Willett, K. Rothman, H. Jick, 1992, JAMA.

Mapping the X-linked lymphoproliferative syndrome.

J. Sullivan, A. Milunsky, K. S. Byron, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Congenital defects, folic-acid, and homoeobox genes

A. Milunsky, 1996, The Lancet.

Mutations in PAX3 associated with waardenburg syndrome type I

C. Baldwin, A. Milunsky, T. Cohen, 1994, Human mutation.

Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women.

J. Kitzmiller, R. Neff, A. Milunsky, 1982, American journal of obstetrics and gynecology.

Carbohydrate Tolerance, Growth Hormone and Insulin Levels in Mongolism

C. Lowy, A. Rubenstein, A. Wright, 1968, Developmental medicine and child neurology.

Chromosomal Anomalies Chromosomal Anomalies among the Offspring of Women with Gestational Diabetes

K. Rothman, M. Singer, L. Moore, 2002 .

Genetics, law and obstetric practice

A. Milunsky, 1983, British journal of obstetrics and gynaecology.

Methotrexate-induced congenital malformations.

J. Graef, A. Milunsky, M. F. Gaynor, 1968, The Journal of pediatrics.

Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide.

R. Lebo, Yongxin Ma, Si-zhong Zhang, 2002, Molecular human reproduction.

First-Trimester Drug Use and Congenital Disorders

A. Stergachis, H. Jick, J. Hunter, 1985, Obstetrics and gynecology.

A 22-bp deletion in the coding region of the cystic fibrosis gene.

M. White, M. Dean, B. Gerrard, 1992, Genomics.

Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

K. Al-Thihli, N. Braverman, R. Basran, 2011, American journal of medical genetics. Part A.

Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene

A. Milunsky, A. Vaglio, R. Quadrelli, 2012 .

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

J. Hirschhorn, A. Dauber, J. Picker, 2010, Pediatrics.

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

N. Kaya, R. Basran, M. Al-Owain, 2011, Clinical genetics.

A tobacco‐specific carcinogen in the fetus

S. Hecht, S. Carmella, A. Milunsky, 2000, Prenatal diagnosis.

Prenatal Diagnosis of Miscellaneous Biochemical Disorders

J. Schulman, D. Rosenblatt, R. Hirschhorn, 1986 .

Prenatal diagnosis of the congenital nephrotic syndrome.

R. Colvin, S. Driscoll, A. Milunsky, 1977, Pediatrics.

Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs.

H. Wyandt, F. Oppenheim, A. Milunsky, 1989, American journal of human genetics.

Utilization of Trophoblast for Early Prenatal Diagnosis

A. Milunsky, S. Rhine, 1979 .

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.

T. Lerner, J. Gusella, J. Milunsky, 1993, American journal of medical genetics.

Glucose intolerance in the parents of children with Down's syndrome.

A. Milunsky, 1970, American journal of mental deficiency.

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

J. Milunsky, V. Michels, A. Milunsky, 2001, American journal of medical genetics.

The Prenatal Diagnosis of Neural Tube and Other Congenital Defects

A. Milunsky, 1986 .

Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies.

A. Milunsky, 1980, JAMA.

Alpha-fetoprotein and the prenatal detection of neural tube defects.

A. Milunsky, 1979, American journal of public health.

Maternal serum AFP secreening.

A. Milunsky, E. Alpert, 1978, The New England journal of medicine.

Fetal bladder-neck obstruction and elevated amniotic-fluid alpha fetoprotein.

R. Goldenberg, S. Nagendran, R. Davis, 1977, The New England journal of medicine.

Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects.

A. Milunsky, A. Carvalho, M. Kimball, 1977, American journal of obstetrics and gynecology.

Current concepts in genetics: prenatal diagnosis of genetic disorders.

A. Milunsky, 1976 .

Antenatal Diagnosis, Alpha Fetoprotein and the FDA

A. Milunsky, E. Alpert, 1976 .

Prenatal detection of neural tube defects. Comparison between alpha-fetoprotein and beta-trace protein assays.

R. Weiss, A. Milunsky, E. Alpert, 1975, American journal of obstetrics and gynecology.

The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects.

A. Milunsky, E. Alpert, 1974, The Journal of pediatrics.

The Prenatal Diagnosis of Chromosomal Disorders

A. Milunsky, 1979 .

Disorders of the Metabolism of Amino Acids and Related Compounds

V. Shih, A. Milunsky, R. Mandell, 1986 .

Prenatal Diagnosis of Neural Tube Defects: IV. MATERNAL SERUM ALPHA-FETOPROTEIN SCREENING

R. Neff, A. Milunsky, F. Frigoletto, 1980, Obstetrics and gynecology.

Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results.

A. Milunsky, E. Alpert, 1976, Obstetrics and gynecology.

Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay.

A. Milunsky, E. Alpert, 1976, Obstetrics and gynecology.

Insulin and glucose response to glucagon in Down's syndrome.

V. Marks, E. Samols, A. Milunsky, 1967, Lancet.

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

L. A. Jones, M. Skinner, A. Cohen, 1991, American journal of human genetics.

Genetics and the Law III

A. Milunsky, George, Annas, 1985, Springer US.

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

A. Milunsky, A. Vaglio, R. Quadrelli, 2007, Fetal Diagnosis and Therapy.

Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event.

H. Wyandt, A. Milunsky, A. Carlson, 1992, Cancer genetics and cytogenetics.

Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463.

G. Zhang, H. Wu, A. Milunsky, 2001, Biochimica et Biophysica Acta.

Diabetes mellitus in Down's Syndrome.

P. Neurath, A. Milunsky, P. W. Neurath, 1968, Archives of environmental health.

Teratogenicity of high vitamin A intake.

K. Rothman, M. Singer, L. Moore, 1996, The New England journal of medicine.

Amniotic Fluid Cell Culture

A. Milunsky, 1979 .

Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy.

J. J. Langone, A. Milunsky, H. van Vunakis, 1974, American journal of obstetrics and gynecology.

Prenatal Diagnosis of Open Neural Tube Defects Using the Amniotic Fluid Acetylcholinesterase Assay

V. Sapirstein, A. Milunsky, 1982, Obstetrics and gynecology.

Prenatal genetic diagnosis.

A. Milunsky, M. Sandstrom, Aubrey Milunsky, 1980, American family physician.

Prenatal genetic diagnosis (second of three parts).

J. Littlefield, J. Kanfer, V. Shih, 1970, The New England journal of medicine.

Chromosomal translocations in secondary acute myeloid leukemia.

J. Rowley, C. Rosenberg, S. Gollin, 1996, The New England journal of medicine.

Predictive values, relative risks, and overall benefits of high and low maternal serum alpha‐fetoprotein screening in singleton pregnancies: New epidemiologic data

W. Willett, C. Bruell, H. Jick, 1990, American journal of obstetrics and gynecology.

Predictive values, relative risks, and overall benefits of high and low maternal serum α-fetoprotein screening in singleton pregnancies: New epidemiologic data

W. Willett, K. Rothman, H. Jick, 1989 .

First-trimester maternal serum α-fetoprotein screening for chromosome defects☆

B. Brambati, J. Wands, A. Milunsky, 1988 .

Decreased levels of amniotic fluid α-fetoprotein associated with Down syndrome

R. O. Davis, E. Bradley, A. Milunsky, 1985 .

Screening for Birth Defects: A Professional Liability Alert

A. Milunsky, 1985 .

Prenatal Diagnosis of Neural Tube Defects: III. A Reevaluation of the Alpha-Fetoprotein Assay

A. Milunsky, E. Alpert, M. Kimball, 1977, Obstetrics and gynecology.

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent

M. Skinner, A. Cohen, A. Milunsky, 1992, Clinical genetics.

Advances in Perinatal Medicine

E. A. Friedman, L. Gluck, A. Milunsky, 1986, Springer US.

Sex Chromosome and X-Linked Disorders

A. Milunsky, 1979 .

Prenatal Genetic Diagnosis: Status and Problems

J. Littlefield, L. B. Jacoby, A. Milunsky, 1973 .

Genetic Counseling: Preconception, Prenatal, and Perinatal

J. Milunsky, A. Milunsky, 2010, Genetic Disorders and the Fetus.

Genetic Disorders and the Fetus

J. Milunsky, A. Milunsky, David J H Brock, 1988 .

Medicolegal Aspects of Prenatal Diagnosis

P. Reilly, A. Milunsky, 1979 .

Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses

A. Milunsky, M. Potier, L. Dallaire, 1980, Clinical genetics.

Ethical and Selected Medical Aspects of Preimplantation Genetic Diagnosis

A. Milunsky, 1991 .

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, M. Dean, B. Gerrard, 1992 .

Advances in Perinatal Medicine

E. A. Friedman, R. Resnik, L. Gluck, 1983, Springer US.

Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects

A. Milunsky, D. V. Dyke, D. L. Dyke, 2015, Genetic Disorders and the Fetus.

Prenatal genetic diagnosis. 3.

J. Littlefield, V. Shih, E. Kolodny, 1970, The New England journal of medicine.

Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism

A. Milunsky, 1979 .

Genetic Disorders and the Fetus: "Diagnosis, Prevention, And Treatment"

Aubrey Milunsky, A. Milunsky, 2012 .

Sclerema neonatorum: a clinical study of 79 cases.

S. E. Levin, A. Milunsky, 1966, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Urea and electrolyte levels in the serum in sclerema neonatorum.

S. E. Levin, A. Milunsky, Solomon E. Levin, 1965, The Journal of pediatrics.

The prenatal diagnosis of inborn errors of metabolism.

J. Littlefield, A. Milunsky, 1972, Annual review of medicine.

Annular pancreas in Down's syndrome.

J. H. Fisher, A. Milunsky, 1968, Lancet.

Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant

K. Holbrook, L. Shulman, S. Elias, 1991, Prenatal diagnosis.

First-Trimester Drug Use and Congenital Disorders

A. Stergachis, H. Jick, J. Hunter, 1981, JAMA.

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).

C. Baldwin, S. Clarren, A. Milunsky, 1993, American journal of human genetics.

Otopathology in a Case of Type I Waardenburg's Syndrome

S. Merchant, M. McKenna, J. Nadol, 2001, The Annals of otology, rhinology, and laryngology.

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

C. Baldwin, R. Macina, A. Milunsky, 1995, American journal of medical genetics.

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

C. Baldwin, J. Amos, A. Milunsky, 1992, Nature.

Genetic Counseling: Prelude to Prenatal Diagnosis

A. Milunsky, 1979 .

The biochemical defect in Farber's disease.

H. Moser, J. Sidbury, A. Milunsky, 1976, Advances in experimental medicine and biology.

Cell culture studies in progeria I. Establishment and partial characterization of a lymphoblastoid cell line

A. Milunsky, Y. Tsung, 1979, Mechanisms of Ageing and Development.

Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18.

B. Brambati, J. Wands, A. Milunsky, 1990, American journal of medical genetics.

Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein.

A. Milunsky, E. Alpert, Y. Tsung, 1980, JIM - Journal of Immunological Methods.

Fetal Medical Therapy

P. Speiser, A. Milunsky, 2015 .

Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects.

K J Rothman, D S MacLaughlin, H Jick, 1989, JAMA.

Evaluation of satellited Y chromosome (Yqs) detected during prenatal diagnosis

B. Haddad, H. Wyandt, A. Milunsky, 1997, Acta obstetricia et gynecologica Scandinavica.

Interstitial deletion involving most of Yq.

H. Wyandt, H. Drwinga, A. Milunsky, 1990, American journal of medical genetics.

Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere

G. Rappold, G. Matthijs, C. Foresta, 2002, Journal of medical genetics.

The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis.

G. Zhang, P. Vogt, R. Lebo, 2001, The Biochemical journal.

Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts.

H. Moser, J. Sidbury, A. Milunsky, 1976, The Journal of pediatrics.

Immunology: 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

J. Amos, R. Oates, A. Milunsky, 1995 .

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.

J. Amos, R. Oates, A. Milunsky, 1995, Human reproduction.

Results and benefits of a maternal serum alpha-fetoprotein screening program.

A Milunsky, A. Milunsky, E. Alpert, 1984, JAMA.

AMNIOTIC-FLUID TOTAL CHOLINESTERASE AND NEURAL-TUBE DEFECTS

J. Blusztajn, S. Zeisel, A. Milunsky, 1979, The Lancet.

Secretion by a hybridoma of antibodies against human alpha-fetoprotein.

A. Milunsky, E. Alpert, Y. Tsung, 1980, The New England journal of medicine.

Maternal serum α-fetoprotein screening and choriocarcinoma

A. Milunsky, J. Yeransian, 1986 .

Section 3: Prenatal screening and diagnosis of open neural tube defects

M. Ferguson-Smith, N. Wald, J. Haddow, 1981 .

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy.

H. Moser, I. Lott, D. Hoefnagel, 1976, The Journal of pediatrics.

Agenesis or hypoplasia of major salivary and lacrimal glands.

J. Milunsky, A. Milunsky, V. Lee, 1990, American journal of medical genetics.

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Q. K. Tan, J. Rosenfeld, K. Flanigan, 2019, Human mutation.

Appendix: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders

A. Milunsky, 2010 .

Cystic fibrosis and Down's syndrome.

A. Milunsky, 1968, Pediatrics.

Plasma, erythrocyte and leucocyte zinc levels in Down's syndrome.

A. Milunsky, B. Hackley, J. Halstead, 2008, Journal of mental deficiency research.

Prenatal diagnosis of genetic disorders.

A. Milunsky, 1981, American Journal of Medicine.

A locus for autosomal recessive achromatopsia on human chromosome 8q

J. Milunsky, A. DeStefano, C. Baldwin, 1999, Clinical genetics.

The Prenatal Diagnosis of Hereditary Disorders

J. Littlefield, A. Milunsky, 1974 .

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q

V. Tonk, B. Wu, B. Haddad, 1995, Clinical genetics.

Prenatal diagnosis of chromosomal mosaicism

L. Atkins, A. Milunsky, 1976 .

Medico-Legal Issues in Prenatal Genetic Diagnosis

A. Milunsky, 1976 .

Risk of Amniocentesis for Prenatal Diagnosis

A. Milunsky, 1975 .

Prenatal Diagnosis of Genetic Disorders An Analysis of Experience With 600 Cases

L. Atkins, A. Milunsky, 1974 .

Schizophrenia susceptibility gene locus at Xp22.3

J. Milunsky, H. Wyandt, A. Milunsky, 1999, Clinical genetics.

Prenatal detection of neural tube defects: false positive and negative results.

A. Milunsky, 1977, Pediatrics.

Partial duplication of Xp: a case report and review of previously reported cases.

H. Wyandt, A. Milunsky, J. Skare, 1991, American journal of medical genetics.

High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus.

D. Schlessinger, B. Wu, G. Porta, 1993, Genomics.

Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease.

W. Sanger, H. Wyandt, D. Purtilo, 1989, American journal of medical genetics.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

A. Milunsky, R. Harston, X‐L Huang, 2005, Clinical genetics.

Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq

J. Sullivan, A. Milunsky, J. Skare, 1989, Human Genetics.

Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes).

J. Milunsky, C. Baldwin, A. Milunsky, 1998, Cancer genetics and cytogenetics.

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.

L. Farrer, A. DeStefano, C. Baldwin, 1996, Genetic analysis : biomolecular engineering.

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

L. Farrer, C. Baldwin, A. Read, 1995, Journal of medical genetics.

Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q

L. Farrer, C. Baldwin, A. Read, 2022 .

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

J. Vincent, T. Ashizawa, M. Pandolfo, 2004, American journal of human genetics.

Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33

Bai-Lin Wu, H. Wyandt, G. Offner, 1993, Human Genetics.

A new mutation causing familial amyloidotic polyneuropathy.

M. Skinner, M. Saraiva, A. Cohen, 1989, Biochemical and biophysical research communications.

A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84.

M. Skinner, A. Cohen, A. Milunsky, 1992, Ophthalmology.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

K. Spengos, S. Shim, C. Konialis, 2005, Prenatal diagnosis.

Genetic counseling in perinatal medicine.

J. Milunsky, A. Milunsky, 1997, Obstetrics and gynecology clinics of North America.

Polyploidy in prenatal genetic diagnosis.

J. Littlefield, L. Atkins, A. Milunsky, 1971, The Journal of pediatrics.

Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia.

H. Wyandt, E. Vosburgh, A. Milunsky, 1991, Cancer genetics and cytogenetics.

Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in Twins

J. Milunsky, R. Lebo, A. Milunsky, 1998, Fetal Diagnosis and Therapy.

Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection

S. Patil, F. Luthardt, H. Wyandt, 1990, Prenatal diagnosis.

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.

J. Milunsky, H. Wyandt, A. Milunsky, 1994, American journal of medical genetics.

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.

A. Milunsky, A. Vaglio, R. Quadrelli, 2010, Genetic testing and molecular biomarkers.

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.

A. Milunsky, A. Vaglio, R. Quadrelli, 2007, European journal of medical genetics.

Chromosomal anomalies among the offspring of women with gestational diabetes.

K. Rothman, M. Singer, L. Moore, 2002, American journal of epidemiology.

Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis.

A. Milunsky, P. Burch, 1969, Lancet.

Lies, Damned Lies, and Medical Experts: The Abrogation of Responsibility by Specialty Organizations and a Call for Action

A. Milunsky, 2003, Journal of child neurology.

The “New Genetics” in Clinical Practice: A Brief Primer

A. Milunsky, 2017, The Journal of the American Board of Family Medicine.

Duplication 18q syndrome

J. Opitz, A. Milunsky, T. Bustos, 1983 .

Brief clinical report: duplication 18q syndrome.

A. Milunsky, T. Bustos, I. Paika, 1983, American journal of medical genetics.

Emerging phenotype of duplication (7p): a report of three cases and review of the literature.

J. Milunsky, H. Wyandt, A. Milunsky, 1989, American journal of medical genetics.

The prevention of genetic disease and mental retardation

A. Milunsky, 1975 .

Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?

N. Rose, A. Milunsky, P. Benn, 2016, Prenatal diagnosis.

Duty to re-contact

K. Hirschhorn, R. Pyeritz, E. McCabe, 1999, Genetics in medicine : official journal of the American College of Medical Genetics.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Ibrahim Osman Adam, M. Daly, K. Lage, 2013, The New England journal of medicine.

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

B. Migeon, C. Epstein, I. Liebaers, 1977, American journal of human genetics.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects

A. Milunsky, D. McDonald-McGinn, S. Shim, 2004, Clinical genetics.

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

Aubrey Milunsky, Thomas Maher, J. Milunsky, 2002, Human reproduction.

Deletion of 15q12 in Angelman syndrome: report of 3 new cases

V. Tonk, H. Wyandt, A. Milunsky, 1992, Clinical genetics.

Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant

J. Milunsky, C. Baldwin, J. Lazier, 2017, Prenatal diagnosis.

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene

J. Milunsky, C. Baldwin, Daniel Primack, 2017, Journal of pediatric gastroenterology and nutrition.

Amniotic Fluid Alpha-Fetoprotein in Anencephaly

A. Milunsky, E. Alpert, D. Charles, 1974, Obstetrics and gynecology.

Periconceptional use of multivitamins and the prevalence of neural-tube defects.

W. Willett, R. Berry, J. Simpson, 1990, The New England journal of medicine.

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

A. Lin, B. Haddad, H. Wyandt, 1996, Journal of medical genetics.

The Hunter syndrome in a 46 XX girl.

E. Neufeld, A. Milunsky, 1973, The New England journal of medicine.

Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome

A. Milunsky, R. McClure, E. León, 2007, Clinical genetics.

Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine.

H. Shwachman, E. Lebenthal, A. Milunsky, 1977, Biology of the neonate.

Renal tubular dysgenesis with microcephaly

J. Milunsky, D. Genest, A. Milunsky, 1997, Pediatric Nephrology.

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy

M. Skinner, A. Cohen, H. Yazici, 1990, Human Genetics.

Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.

J. Milunsky, A. DeStefano, C. Baldwin, 1997, American journal of medical genetics.

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

A. Milunsky, J. Milunsky, RV Lebo, 2001, Clinical genetics.

Mutation analysis in Rett syndrome.

J. Milunsky, R. Lebo, C. Haverty, 2001, Genetic testing.

Sex-determining genes and the Y-chromosome.

A. Milunsky, 1973, New England Journal of Medicine.

Diagnostic limitations of metachromasia.

J. Littlefield, A. Milunsky, 1969, The New England journal of medicine.

Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytes

H. Moser, A. Milunsky, J. Dulaney, 1976 .

Vitamin A and retinol-binding protein in amniotic fluid.

A. Milunsky, B. Underwood, J. Wallingford, 1983, The American journal of clinical nutrition.

Cerebral gigantism in childhood. A report of two cases and a review of the literature.

V. Cowie, A. Milunsky, E. Donoghue, 1967, Pediatrics.

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD)

B. Bejjani, J. Amos, A. Milunsky, 1991, Clinical genetics.

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

D. Tulchinsky, A. Milunsky, 1977, Pediatrics.

Folate Intake and the Risk of Neural Tube Defects: An Estimation of Dose-Response

K. Rothman, M. Singer, L. Moore, 2003 .

Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes.

J. Milunsky, A. Milunsky, J. Skare, 1991, The American journal of the medical sciences.

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

J. Milunsky, J. Amos, A. Milunsky, 1991, American journal of obstetrics and gynecology.

The "new" genetics: emerging medicolegal issues in the prenatal diagnosis of hereditary disorders.

P. Reilly, A. Milunsky, P. Reilly, 1975 .

The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders.

P. Reilly, A. Milunsky, 1975, American journal of law & medicine.

Prenatal Genetic Diagnosis and the Law

A. Milunsky, 1980 .

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

K. Arnos, A. Pandya, L. Farrer, 1998, Human Genetics.

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.

A. Milunsky, A. Vaglio, R. Quadrelli, 2008, European journal of medical genetics.

Patella Alta and Trochlea Dysplasia Is Associated with Abnormal Type II Collagen and Matrix Accumulation in Chondrocytes

D. Dejour, T. Horn, A. Milunsky, 2014 .

Heredity and your family's health

A. Milunsky, 1992 .

THE VALUE OF ALPHA-FETOPROTEIN IN THE PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS

A. Milunsky, E. Alpert, 1975 .

Hypoxic spinal cord injury and/or abnormality in utero.

A. Milunsky, 2007, Pediatric Neurology.

A microassay for argininosuccinase in cultured cells.

J. Littlefield, V. Shih, A. Milunsky, 1972, American journal of human genetics.

Ovulation induction and neural tube defects.

H. Jick, L. Derby, A. Milunsky, 1990, Teratology.

A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90

J. Milunsky, M. Skinner, A. Cohen, 1991, Clinical genetics.

Maternal serum triple analyte screening and adverse pregnancy outcome.

A. Milunsky, L. Nebiolo, 1996, Fetal diagnosis and therapy.

Lysosomal enzyme variations in cultured normal skin fibroblasts.

J. Kanfer, A. Milunsky, C. Spielvogel, 1972, Life sciences. Pt. 2: Biochemistry, general and molecular biology.

Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum.

J. Wands, N. Brown, A. Milunsky, 1988, The Journal of clinical endocrinology and metabolism.

Lethal congenital anomalies.

A. Milunsky, 1983, JAMA.

Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis

M. Skinner, A. Cohen, A. Milunsky, 1994, Clinical genetics.

Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis

J. Milunsky, V. Tonk, H. Wyandt, 2006, Fetal Diagnosis and Therapy.

46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies.

J. Herskowitz, L. Farrer, H. Wyandt, 1993, American journal of medical genetics.

First Turkish Family with FAP has Homozygous Met 30 TTR

M. Skinner, A. Cohen, H. Yazici, 1991 .

First‐trimester maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening for chromosome defects

J. Wands, A. Milunsky, Linda Nebiolo, 1990, Prenatal Diagnosis.

The effect of p-chloromercuriophenylsulfonate on skin fibroblast acid hydrolases

J. Kanfer, A. Milunsky, C. Spielvogel, 1972 .

PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE

A. Milunsky, 1973 .

Maternal zinc and fetal neural tube defects.

W. Willett, K. Rothman, J. S. Morris, 1992, Teratology.

Prenatal diagnosis of Friedreich ataxia.

M. Farrall, R. Williamson, D. Wilkes, 1989, American journal of medical genetics.

Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37

R. Nussbaum, B. White, B. Sylla, 1989, Human Genetics.

Cholesterol Metabolism in Cultured Fibroblasts in Adrenoleukodystrophy

G. Delong, E. Yavin, E. Kolodny, 1976, Pediatric Research.

Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm1‐gangliosidosis and Fabry disease

A. Milunsky, Mariluci T. Bladon, 1978, Clinical genetics.

The value of MLPA in Waardenburg syndrome.

J. Milunsky, M. Ito, A. Milunsky, 2007, Genetic testing.

In situ hybridization applied to Waardenburg syndrome.

C. Baldwin, B. Wu, H. Wyandt, 1993, Cytogenetics and Cell Genetics.

Maternal serum human chorionic gonadotropin levels in twin pregnancies

A. Milunsky, Susan L. Miller, L. Nebiolo, 1991, Prenatal diagnosis.

VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women

J. Kitzmiller, R. Neff, D. Younger, 1982 .

A large deletion in the CFTR gene in CBAVD

Weimin Sun, C. Strom, F. Hantash, 2006, Genetics in Medicine.

Test for elevated AFP levels.

A. Milunsky, M. Kimball, 1978, American Journal of Obstetrics and Gynecology.

Maternal serum screening for chromosome defects: human chorionic gonadotropin versus its free-beta subunit.

D. Bellet, A. Milunsky, L. Nebiolo, 1993, Fetal diagnosis and therapy.

Gene sequencing in neonates and infants with the long QT syndrome.

Masamichi Ito, S. Shim, A. Milunsky, 2005, Genetic testing.

Editorial: Hereditary eye disease and prenatal diagnosis.

A. Milunsky, 1974, Archives of ophthalmology.

Genetic counseling, the ophthalmologist and the law.

A. Milunsky, 1977, Metabolic ophthalmology.

Obstetrics, genetics, and litigation

A. Milunsky, 2021, Acta obstetricia et gynecologica Scandinavica.

Familial supernumerary chromosome and malignancy.

J. Milunsky, H. Wyandt, A. Milunsky, 1996, Cancer genetics and cytogenetics.

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.

A. Milunsky, A. Vaglio, R. Quadrelli, 2009, Genetic testing and molecular biomarkers.

Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisons and Haplotype Analysis of 37 Families with Ataxia

J. Vincent, T. Ashizawa, M. Pandolfo, 2022 .

Prenatal diagnosis: detailed chromosomal analysis in 500 cases

L. Atkins, A. Milunsky, Jacqueline M. Shahood, 1974, Clinical genetics.

Case report: cystic fibrosis and embryonal carcinoma of the testis.

J. Milunsky, A. Milunsky, 1996, The American journal of the medical sciences.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, B. Gerrard, J. Amos, 1992, JAMA.

Cerebral gigantism in childhood.

A. Milunsky, 1967, Pediatrics.

Sickle Cell Disease.

A. Milunsky, 2017, The New England journal of medicine.

Teratogenicity of high vitamin A intake.

K. Rothman, M. Singer, L. Moore, 1995, The New England journal of medicine.

Genetics and the Law II

G. Annas, A. Milunsky, 1980, Springer US.

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

J. Vincent, T. Ashizawa, M. Pandolfo, 2004, American journal of human genetics.

Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies.

A. Milunsky, 1980, JAMA.

Genetic Disorders and the Fetus

J. Milunsky, A. Milunsky, 2009 .

A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

J. Milunsky, H. Hovhannisyan, W. Dong, 2020, Journal of Assisted Reproduction and Genetics.

Urea and electrolyte levek in

S. E. Levin, A. Milunsky, 1963 .

Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures.

A. Milunsky, M. T. Bladon, 1980, Clinica chimica acta; international journal of clinical chemistry.

Amniocentesis for Prenatal Genetic Studies

J. Littlefield, L. Atkins, A. Milunsky, 1972, Obstetrics and gynecology.

Normal serum alpha-fetoprotein levels during mid-pregnancy.

A. Milunsky, E. Alpert, J. Yeransian, 1981, The New England journal of medicine.

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

A. Lin, B. Haddad, H. Wyandt, 1996, Journal of medical genetics.

Abortion legislation. Implications for medicine.

L. Glantz, A. Milunsky, 1982, JAMA.

First-trimester maternal serum alpha-fetoprotein screening for chromosome defects.

B. Brambati, J. Wands, A. Milunsky, 1988, American journal of obstetrics and gynecology.

Prenatal screening, policies, and values: The example of neural tube defects

Aubrey Milunsky, A. Milunsky, 1988 .