Aubrey Milunsky
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South African geneticist
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Biology
Aubrey Milunsky's Degrees
- Masters Medicine University of Cape Town
- PhD Human Genetics University of Cape Town
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(Suggest an Edit or Addition)Aubrey Milunsky's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. (1989) (675)
- Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. (1992) (530)
- An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome (1992) (445)
- Methotrexate-induced congenital malformations. (1968) (289)
- Maternal heat exposure and neural tube defects. (1992) (271)
- 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). (1993) (250)
- Teratogenicity of high vitamin A intake. (1996) (242)
- First-Trimester Drug Use and Congenital Disorders (1981) (232)
- A Prospective Study of the Risk of Congenital Defects Associated with Maternal Obesity and Diabetes Mellitus (2000) (208)
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (2013) (189)
- Genetic Disorders and the Fetus (1979) (173)
- Prenatal genetic diagnosis. I. (1970) (143)
- Predictive values, relative risks, and overall benefits of high and low maternal serum α-fetoprotein screening in singleton pregnancies: New epidemiologic data (1989) (126)
- Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. (1995) (120)
- First-trimester drug use and congenital disorders. (1981) (114)
- Genetic Disorders and the Fetus: "Diagnosis, Prevention, And Treatment" (2012) (113)
- 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 (1995) (106)
- Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women. (1982) (96)
- High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. (1978) (90)
- Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (2001) (78)
- Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. (2004) (77)
- Mapping the X-linked lymphoproliferative syndrome. (1987) (71)
- Mutations in PAX3 associated with waardenburg syndrome type I (1994) (70)
- Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (1976) (69)
- The Prenatal Diagnosis of Hereditary Disorders (1974) (68)
- Prenatal Diagnosis of Neural Tube Defects: IV. MATERNAL SERUM ALPHA-FETOPROTEIN SCREENING (1980) (67)
- Diabetes mellitus in Down's Syndrome. (1968) (67)
- Advances in Perinatal Medicine (1986) (64)
- Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). (1996) (62)
- The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. (1974) (61)
- Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. (1989) (60)
- Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations (1998) (60)
- Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy. (1974) (57)
- Folate Intake and the Risk of Neural Tube Defects: An Estimation of Dose-Response (2003) (53)
- Results and benefits of a maternal serum alpha-fetoprotein screening program. (1984) (53)
- Lysosomal enzyme variations in cultured normal skin fibroblasts. (1972) (53)
- Predictive values, relative risks, and overall benefits of high and low maternal serum alpha‐fetoprotein screening in singleton pregnancies: New epidemiologic data (1990) (52)
- Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. (2002) (52)
- Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. (1996) (50)
- Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses (1980) (49)
- Schizophrenia susceptibility gene locus at Xp22.3 (1999) (48)
- A tobacco‐specific carcinogen in the fetus (2000) (48)
- Duty to re-contact (1999) (47)
- The prevention of genetic disease and mental retardation (1975) (46)
- Maternal zinc and fetal neural tube defects. (1992) (46)
- 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. (1995) (46)
- Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. (1969) (46)
- Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies. (1980) (45)
- Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. (1997) (45)
- Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. (1990) (44)
- The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? (1977) (44)
- Prenatal genetic diagnosis (second of three parts). (1970) (41)
- Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (1976) (41)
- Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event. (1992) (41)
- Genetics and the Law II (1980) (40)
- Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. (1989) (39)
- A new mutation causing familial amyloidotic polyneuropathy. (1989) (37)
- Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. (1976) (37)
- Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. (1991) (37)
- The prenatal diagnosis of inborn errors of metabolism. (1972) (36)
- ELEVATED AMNIOTIC-FLUID ALPHA-FETOPROTEIN AND DUODENAL ATRESIA (1975) (35)
- Maternal serum triple analyte screening and adverse pregnancy outcome. (1996) (35)
- Current concepts in genetics. Prenatal diagnosis of genetic disorders. (1976) (35)
- Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications? (2016) (35)
- Cerebral gigantism in childhood. A report of two cases and a review of the literature. (1967) (35)
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. (1995) (34)
- Polyploidy in prenatal genetic diagnosis. (1971) (34)
- A large deletion in the CFTR gene in CBAVD (2006) (33)
- Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. (1974) (33)
- Prenatal Diagnosis of Open Neural Tube Defects Using the Amniotic Fluid Acetylcholinesterase Assay (1982) (33)
- Emerging phenotype of duplication (7p): a report of three cases and review of the literature. (1989) (32)
- Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. (1976) (32)
- Prenatal Diagnosis of Neural Tube Defects: III. A Reevaluation of the Alpha-Fetoprotein Assay (1977) (30)
- Vitamin A and retinol-binding protein in amniotic fluid. (1983) (30)
- Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent (1992) (30)
- Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum. (1988) (29)
- Folate intake and the risk of neural tube defects: an estimation of dose-response. (2003) (29)
- Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene (2017) (29)
- Prenatal detection of neural tube defects. Comparison between alpha-fetoprotein and beta-trace protein assays. (1975) (28)
- Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance (2011) (28)
- Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia. (1991) (28)
- Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. (1994) (28)
- The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. (2001) (28)
- Plasma, erythrocyte and leucocyte zinc levels in Down's syndrome. (2008) (28)
- Amniocentesis for Prenatal Genetic Studies (1972) (28)
- A microassay for argininosuccinase in cultured cells. (1972) (27)
- Chromosomal anomalies among the offspring of women with gestational diabetes. (2002) (27)
- The value of MLPA in Waardenburg syndrome. (2007) (27)
- Prenatal molecular diagnosis of tuberous sclerosis complex. (2009) (27)
- Amniotic Fluid Cell Culture (1979) (26)
- Lies, Damned Lies, and Medical Experts: The Abrogation of Responsibility by Specialty Organizations and a Call for Action (2003) (26)
- First-trimester maternal serum α-fetoprotein screening for chromosome defects☆ (1988) (26)
- CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype (2006) (26)
- A locus for autosomal recessive achromatopsia on human chromosome 8q (1999) (25)
- A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84. (1992) (25)
- Gene sequencing in neonates and infants with the long QT syndrome. (2005) (25)
- Interstitial deletion involving most of Yq. (1990) (24)
- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1977) (24)
- Decreased levels of amniotic fluid α-fetoprotein associated with Down syndrome (1985) (24)
- Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy (1990) (23)
- Agenesis or hypoplasia of major salivary and lacrimal glands. (1990) (23)
- Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis. (1971) (23)
- Glucose intolerance in the parents of children with Down's syndrome. (1970) (23)
- Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis (2006) (22)
- Otopathology in a Case of Type I Waardenburg's Syndrome (2001) (22)
- Utilization of Trophoblast for Early Prenatal Diagnosis (1979) (22)
- Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects (2004) (22)
- The Prenatal Diagnosis of Neural Tube and Other Congenital Defects (1986) (22)
- Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine. (1977) (21)
- A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90 (1991) (21)
- Diagnostic limitations of metachromasia. (1969) (20)
- Risk of Amniocentesis for Prenatal Diagnosis (1975) (20)
- Partial duplication of Xp: a case report and review of previously reported cases. (1991) (20)
- Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection (1990) (20)
- Mutation analysis in Rett syndrome. (2001) (19)
- Prenatal genetic diagnosis. (1980) (19)
- Prenatal diagnosis of chromosomal mosaicism (1976) (19)
- First‐trimester maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening for chromosome defects (1990) (19)
- Prenatal genetic diagnosis. 3. (1970) (19)
- Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene (2005) (18)
- Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytes (1976) (18)
- Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses (2005) (18)
- Genetic Counseling: Preconception, Prenatal, and Perinatal (2010) (18)
- Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. (1993) (18)
- Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere (2002) (17)
- A novel mutation in the MITF gene causes Waardenburg syndrome type 2. (1996) (17)
- Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis (1994) (17)
- Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. (2002) (17)
- Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes). (1998) (16)
- Carbohydrate Tolerance, Growth Hormone and Insulin Levels in Mongolism (1968) (16)
- Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein. (1980) (16)
- Fetal bladder-neck obstruction and elevated amniotic-fluid alpha fetoprotein. (1977) (15)
- Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing (2019) (15)
- Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 (1989) (15)
- Prenatal diagnosis of Friedreich ataxia. (1989) (15)
- In situ hybridization applied to Waardenburg syndrome. (1993) (15)
- Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning (2011) (15)
- Prenatal diagnosis of the congenital nephrotic syndrome. (1977) (15)
- Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. (2001) (15)
- Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome (2010) (15)
- Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life (2001) (14)
- Genetics and the Law (1995) (14)
- Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region (2001) (14)
- Amniotic Fluid Alpha-Fetoprotein in Anencephaly (1974) (14)
- Chromosomal translocations in secondary acute myeloid leukemia. (1996) (14)
- Abnormal Copper Metabolism in Menke's Steely-Hair Syndrome (1979) (13)
- Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq (1989) (13)
- Genetic metabolic disease. Early diagnosis and prenatal analysis. (1981) (13)
- Cholesterol Metabolism in Cultured Fibroblasts in Adrenoleukodystrophy (1976) (13)
- Cystic fibrosis and Down's syndrome. (1968) (13)
- Commercialization of clinical genetic laboratory services: in whose best interest? (1993) (13)
- Maternal Serum Screening for Neural Tube and Other Defects (2010) (12)
- Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. (1992) (12)
- Maternal serum screening for chromosome defects: human chorionic gonadotropin versus its free-beta subunit. (1993) (12)
- Periconceptional use of multivitamins and the prevalence of neural-tube defects. (1990) (12)
- Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33 (1993) (12)
- Maternal serum AFP secreening. (1978) (12)
- Prenatal diagnosis: detailed chromosomal analysis in 500 cases (1974) (12)
- High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. (1993) (12)
- Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia (2019) (12)
- Tetraploidy in amniotic-fluid cells. (1970) (11)
- ROUTINE TESTING FOR ALPHA-FETOPROTEIN IN AMNIOTIC FLUID (1976) (11)
- Ovulation induction and neural tube defects. (1990) (11)
- The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis (2005) (11)
- Maternal serum human chorionic gonadotropin levels in twin pregnancies (1991) (10)
- Sex-determining genes and the Y-chromosome. (1973) (10)
- The Prenatal Diagnosis of Chromosomal Disorders (1979) (10)
- Secretion by a hybridoma of antibodies against human alpha-fetoprotein. (1980) (10)
- Renal tubular dysgenesis with microcephaly (1997) (10)
- Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism (2011) (9)
- Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q (1995) (9)
- Failure of amniotic-fluid cell growth with toxic tubes. (1979) (9)
- AMNIOTIC-FLUID TOTAL CHOLINESTERASE AND NEURAL-TUBE DEFECTS (1979) (9)
- Prenatal diagnosis of neural tube defects. (1977) (9)
- HAZARDS OF AMNIOCENTESIS (1979) (8)
- The Hunter syndrome in a 46 XX girl. (1973) (8)
- 46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies. (1993) (8)
- The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders. (1975) (8)
- Prenatal diagnosis of genetic disorders. (1981) (8)
- Insulin and glucose response to glucagon in Down's syndrome. (1967) (8)
- Duplication 18q syndrome (1983) (7)
- Prenatal detection of neural tube defects: false positive and negative results. (1977) (7)
- Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant (2017) (7)
- Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome (2007) (7)
- Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm1‐gangliosidosis and Fabry disease (1978) (7)
- Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant (1991) (7)
- Sclerema neonatorum: a clinical study of 79 cases. (1966) (7)
- A 22-bp deletion in the coding region of the cystic fibrosis gene. (1992) (7)
- Cytogenetic studies of an adrenal cortical carcinoma. (1992) (7)
- Vitamins During Pregnancy and Neural Tube Defects-Reply (1990) (6)
- Threatened survival of academic-based genetic laboratory services. (1992) (6)
- Alpha-fetoprotein and the prenatal detection of neural tube defects. (1979) (6)
- The “New Genetics” in Clinical Practice: A Brief Primer (2017) (6)
- Genetic counseling in perinatal medicine. (1997) (6)
- Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism (1979) (6)
- Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q (6)
- Genetics, law and obstetric practice (1983) (6)
- Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele. (1984) (6)
- Advances in Perinatal Medicine (1983) (6)
- Coping with crisis and handicap (1981) (6)
- Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects. (1977) (6)
- 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 (2007) (6)
- Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes. (1991) (6)
- 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. (2007) (6)
- PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE (1973) (6)
- Cerebral gigantism in childhood. (1967) (6)
- The Cri du Chat syndrome. (2008) (6)
- Vitamins to prevent neural tube defects (1991) (6)
- The biochemical defect in Farber's disease. (1976) (6)
- Urea and electrolyte levels in the serum in sclerema neonatorum. (1965) (5)
- Harvesting organs for transplantation from dying anencephalic infants. (1988) (5)
- Congenital defects, folic-acid, and homoeobox genes (1996) (5)
- High Performance Liquid Chromatography for the Detection of Homozygotes and Heterozygotes of Niemann-Pick Disease (1978) (5)
- Gm2-gangliosidosis: studies in cultured fibroblasts. (1973) (5)
- Prenatal Genetic Diagnosis and the Law (1980) (5)
- Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes. (1991) (5)
- Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. (1985) (5)
- Case report: cystic fibrosis and embryonal carcinoma of the testis. (1996) (5)
- Lethal congenital anomalies. (1983) (5)
- Heredity and your family's health (1992) (5)
- Antenatal Diagnosis, Alpha Fetoprotein and the FDA (1976) (5)
- The “New” Genetics: Emerging Medicolegal Issues in the Prenatal Diagnosis of Hereditary Disorders (1975) (4)
- 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. (2010) (4)
- A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts (2020) (4)
- Editorial: Risk of amniocentesis for prenatal diagnosis. (1975) (4)
- Familial supernumerary chromosome and malignancy. (1996) (4)
- 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. (2008) (4)
- First prenatal diagnosis of X-linked lymphoproliferative disease. (1992) (4)
- First-trimester maternal serum alpha-fetoprotein screening for chromosome defects. (1988) (4)
- FIRST TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN (MSAFP) SCREENING FOR CHROMOSOME DEFECTS (1987) (4)
- Deregulation of screening for alpha-fetoprotein in pregnancy. (1984) (4)
- Ethical and Selected Medical Aspects of Preimplantation Genetic Diagnosis (1991) (4)
- Medico-Legal Issues in Prenatal Genetic Diagnosis (1976) (4)
- Medicolegal Aspects of Prenatal Diagnosis (1979) (3)
- Down's syndrome and cystic fibrosis. (1969) (3)
- The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD) (1991) (3)
- ALPHA-FETOPROTEIN ASSAY IN ALL AMNIOCENTESIS SAMPLES (1976) (3)
- Sickle Cell Disease. (2017) (3)
- Normal serum alpha-fetoprotein levels during mid-pregnancy. (1981) (3)
- Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in Twins (1998) (3)
- Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures. (1980) (3)
- The effect of p-chloromercuriophenylsulfonate on skin fibroblast acid hydrolases (1972) (3)
- 1305 FIRST TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN (MSAFp) SCREENING (1985) (3)
- ASN 90 is the Variant TTR in an Italian FAP Kinship (1991) (3)
- Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects (2015) (3)
- Patella Alta and Trochlea Dysplasia Is Associated with Abnormal Type II Collagen and Matrix Accumulation in Chondrocytes (2014) (2)
- Editorial: Hereditary eye disease and prenatal diagnosis. (1974) (2)
- Genetics and the Law III (1985) (2)
- Cautions about maternal serum alpha-fetoprotein screening. (1985) (2)
- Genetic Counseling: Prelude to Prenatal Diagnosis (1979) (2)
- Annular pancreas in Down's syndrome. (1968) (2)
- Choices, Not Chances: An Essential Guide to Your Heredity and Health (1989) (2)
- VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women (1982) (2)
- 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. (2009) (2)
- Reply to Hecht and Hecht, Trigg and Geier, and Warren. (1992) (2)
- Sex Chromosome and X-Linked Disorders (1979) (2)
- Fetal malformations and environmental influences: A perspective (1982) (2)
- FREE AMINO ACID CONCENTRATIONS IN FETAL SERUM (1974) (2)
- An important clinical approach in detecting the fragile X syndrome. (1985) (2)
- Brief clinical report: duplication 18q syndrome. (1983) (2)
- Obstetrics, genetics, and litigation (2021) (2)
- 'Prolife' perinatologist [1] (1992) (1)
- Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies. (1980) (1)
- Prenatal screening, policies, and values: The example of neural tube defects (1988) (1)
- Birth defects: clinical and ethical considerations. Annual review of birth defects, 1982. (1984) (1)
- The "new" genetics: from research to reality. (1993) (1)
- ETERNAL SERUM ALPHA-FETOPROTEIN (AFP) SCREENING FOR NEURAL TUBE DEFECTS (NTDS) (1977) (1)
- Abortion legislation. Implications for medicine. (1982) (1)
- Genetic Counseling in Prenatal and Perinatal Medicine (2008) (1)
- Response to Dr Golden (2004) (1)
- Genetic counseling, the ophthalmologist and the law. (1977) (1)
- Section 3: Prenatal screening and diagnosis of open neural tube defects (1981) (1)
- Genetic Disorders and the Fetus (1986) (1)
- THE VALUE OF ALPHA-FETOPROTEIN IN THE PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (1975) (1)
- Reply to Drs. Platt and Golde (1983) (1)
- Re: Choices, not chances (1990) (1)
- Prenatal Diagnosis of Miscellaneous Biochemical Disorders (1986) (1)
- Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. (1976) (1)
- Policy analysis for prenatal genetic diagnosis. (1979) (1)
- Reviewer Acknowledgment (2013) (0)
- Alpha-fetoprotein and the prenatal detection of neural tube defects. (Editorial) (1979) (0)
- Appendix: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders (2010) (0)
- Reply to Drs. Eunpu, Zackai, and Mennuti (1983) (0)
- EXPERIENCE WITH α-FETOPROTEIN (AFP) IN PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (NTD) (1974) (0)
- Prenatal Detection of Neural Tube Defects (2019) (0)
- Book ReviewAntenatal Diagnosis of Genetic Disease. (1974) (0)
- WAARDENBURG SYNDROME IS CAUSED BY DEFECTS AT MULTIPLE LOCI, ONE OF WHICH IS TIGHTLY LINKED TO ALPP ON CHROMOSOME-2 - 1ST REPORT OF THE WS CONSORTIUM (1991) (0)
- 875 ZINC THERAPY IN MANNOSIDOSIS (1978) (0)
- In Reply: The Anencephalic Controversy (1989) (0)
- 1210 ACETYLCHOLINESTERASE (AChE) ASSAY FOR PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (NTDs) (1981) (0)
- Chromosomal Anomalies Chromosomal Anomalies among the Offspring of Women with Gestational Diabetes (2002) (0)
- Test for elevated AFP levels. (1978) (0)
- Molecular Genetics and Prenatal Diagnosis (2015) (0)
- PRENATAL GENETIC DIAGNOSIS (PART III) (1971) (0)
- Chromosome13qdeletion withWaardenburg syndrome: further evidence forageneinvolved inneural crest function on13q (1995) (0)
- Manslaughter and Negligent Homicide by a Navy Surgeon: A Banquet of Consequences (1985) (0)
- FETAL SERUM LYSOSOMAL ENZYMES (1974) (0)
- DISACCHAPIDASE AID LYSOSOMAL ENZYME ACTIVITIES IN AUNITIC FLUID AND HUMAN FETAL. SMALL INTESTIN (1977) (0)
- Editorial help (2004) (0)
- Disorders of the Metabolism of Amino Acids and Related Compounds (1986) (0)
- MONOCLONAL ANTIBODY AGAINST OUABAIN SENSITIVITY RELATED HUMAN CELL SURFACE ANTIGEN (1982) (0)
- Alpha-fetoprotein assay in all amniocentesis samples. (Letter) (1976) (0)
- President's Column (1986) (0)
- Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA. (1976) (0)
- Pulmonary Function andClinical Observations inMenWithCongenital Bilateral Absence oftheVasDeferens (2015) (0)
- 2002 ANNUAL CLINICAL GENETICS MEETING (2001) (0)
- Selected Book Releases (1989) (0)
- Modern way to predict your baby's future (1978) (0)
- Reply to nightingale and meister. (1988) (0)
- 557 PRENATAL DIAGNOSIS IN THE FIRST TRIMESTER VIA ENDOCER VICAL SAMPLING (1978) (0)
- "Prolife" perinatologist. (1992) (0)
- TOENAIL ZINC (Zn) IN MOTHERS OF PROGENY WITH NEURAL TUBE DEFECTS (NTDS) (1984) (0)
- Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts (2021) (0)
- Urea and electrolyte levek in (1963) (0)
- L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12). (1989) (0)
- 512 PRENATAL DIAGNOSIS OF LYSOSOMAL ENZYME DISORDERS USING MICROASSAYS (1978) (0)
- Science and Society: Genetics and the law (1985) (0)
- Maternal Exposure to Heat from Saunas, Hot Tubs and Fevers Increases the Risk for Neural Tube Defects in Fetuses (1992) (0)
- Deletion of 15q12 in Angelman syndrome: report of 3 new cases (1992) (0)
- Screening for Birth Defects: A Professional Liability Alert (1985) (0)
- First Turkish Family with FAP has Homozygous Met 30 TTR (1991) (0)
- Prenatal Diagnosis: Selected Problems and Quality Assurance (1982) (0)
- Maternal serum AFP and birth weight (letter) (1978) (0)
- Maternal serum α-fetoprotein screening and choriocarcinoma (1986) (0)
- Letter to the Editor (1969) (0)
- P252: Narcolepsy in Ehlers-Danlos syndrome (2023) (0)
- Hypoxic spinal cord injury and/or abnormality in utero. (2007) (0)
- Prenatal Genetic Diagnosis: Status and Problems (1973) (0)
- Prenatal detection of neural tube defects: experience with alpha-fetoprotein assays of amniotic fluid. (1978) (0)
- Ethics in Conflict (1985) (0)
- Genetic testing and individual rights. (1993) (0)
- Cell culture studies in progeria I. Establishment and partial characterization of a lymphoblastoid cell line (1979) (0)
- Fetal Medical Therapy (2015) (0)
- A.F.P. IN AMNIOTIC FLUID AND SERUM (1978) (0)
- 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 (2012) (0)
- Evaluation of satellited Y chromosome (Yqs) detected during prenatal diagnosis (1997) (0)
- Folic acid and neural tube defect avoidance (1992) (0)
- Contents, Vol. 32, 1977 (1977) (0)
- Care in Chronic Fatal Genetic Disease (1981) (0)
- Author response for "Identification of a Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo‐Obstruction: Results of Whole‐Exome Sequencing" (2019) (0)
- Letter: Prenatal diagnois of chromosomal mosaicism. (1976) (0)
- PRENATAL DIAGNOSIS OF GENETIC DISORDERS. AN ANALYSIS OF EXPERIENCE WITH 600 CASES (1975) (0)
- Avoidable deaths and harm due to medical negligence (2019) (0)
- Routine amniotic fluid alpha-fetoprotein assays. (1983) (0)
- Abortion Legislation-Reply (1983) (0)
- From PKU to the Clonal Man (1976) (0)
- Author's reply (1984) (0)
- Prenatal diagnosis of genetic abnormalities. (1974) (0)
- Letter: Prenatal diagnosis of Tay-Sachs disease. (1973) (0)
- Maternal serum alpha-fetoprotein screening and choriocarcinoma. (1986) (0)
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