H. Nadler

发表

Clinical diagnosis of the inborn errors of metabolism in the neonatal period.

B. Burton, H. Nadler, 1978, Pediatrics.

Prenatal detection of genetic defects.

H. Nadler, 1969, The Journal of pediatrics.

884 EFFECTS OF THE CONCEPTUS ON GLUCOSE KINETICS DURING FASTING IN PREGNANCY

B. Metzger, N. Freinkel, E. Ogata, 1978, Pediatric Research.

PRENATAL DETECTION OF CYSTIC FIBROSIS

H. Nadler, P. Rembelski, K. Mesirow, 1981, The Lancet.

Chromosomal investigation in pregnancies following chemotherapy for choriocarcinoma.

H. Nadler, A. Gerbie, M. Cohen, 1971, Lancet.

Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis.

E. Pergament, F. Muller, D. Cook, 1987, American journal of human genetics.

Radiometric assays of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety.

H. Nadler, Y. Ben-yoseph, M. S. Baylerian, 1984, Analytical biochemistry.

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

E. Beutler, R. Teplitz, W. Kuhl, 1971, American journal of human genetics.

BIOCHEMICAL CHANGES IN CHROMOSOMAL ABNORMALITIES *

L. Shih, D. Hsia, H. Nadler, 1969 .

Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity.

B. Burton, H. Nadler, 1977, The Journal of pediatrics.

Prenatal Diagnosis of Inborn Defects: A Status Report

H. Nadler, 1975 .

Present status of intrauterine diagnosis of genetic defects.

B. Burton, H. Nadler, A. Gerbie, 1974, American journal of obstetrics and gynecology.

Multiple carbohydrate-cleaving specificities in human acidic and neutral glycosidases.

R. Rousson, M. Fiddler, H. Nadler, 1979, Biochimica et biophysica acta.

Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.

H. Nadler, Y. Ben-yoseph, 1978, Journal of clinical pathology.

Prenatal Diagnosis of Genetic Disorders Leading to Mental Retardation

S. Melançon, H. Nadler, 1973 .

Prenatal detection of cystic fibrosis.

H. Nadler, A. Gerbie, P. Rembelski, 1981, American journal of obstetrics and gynecology.

Methylumbelliferylguanidinobenzoate-reactive proteases in human amniotic fluid: Promising marker for the intrauterine detection of cystic fibrosis.

H. Nadler, M. M. Walsh, 1980, American journal of obstetrics and gynecology.

Utilization of white blood cells for study of clinical genetic disorders

D. Hsia, H. Nadler, 1967 .

Prenatal diagnosis of Pompe's disease.

H. Nadler, I. Salafsky, 1971, The New England journal of medicine.

REACTION OF 4-METHYLUMBELLIFERYLGUANIDINOBENZOATE WITH PROTEASES IN HUMAN AMNIOTIC FLUID

H. Nadler, M. M. Walsh, G. S. Rao, 1980, Pediatric Research.

The nature of the residual arylsulfatase activity in metachromatic leukodystrophy.

E. Shapira, H. Nadler, 1975, The Journal of pediatrics.

Km defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency.

T. Momoi, H. Nadler, Y. Ben-yoseph, 1982, Clinica chimica acta; international journal of clinical chemistry.

Apparently normal extracellular acidic alpha-mannosidase in fibroblast cultures from patients with mannosidosis.

J. Charrow, H. Nadler, Y. Ben-yoseph, 1982, American journal of human genetics.

Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme.

M. Hungerford, H. Nadler, Y. Ben-yoseph, 1979, Archives of biochemistry and biophysics.

Purification and properties of neutral ?-galactosidases from human liver

E. Shapira, H. Nadler, Y. Ben-yoseph, 1977 .

Transport of L-Cystine by Cultivated Skin Fibroblasts of Normal Subjects and Patients with Cystinosis

C. Kaye, H. Nadler, 1976, Pediatric Research.

Antenatal detection of hereditary disorders.

H. Nadler, 1968, Pediatrics.

Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies.

M. Potier, S. Melançon, H. Nadler, 1986, Enzyme.

Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?

E. Shapira, M. Fiddler, H. Nadler, 1979, Nature.

A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease.

H. Nadler, I. Salafsky, 1973, The Journal of laboratory and clinical medicine.

Cultivated epithelial-like cells and fibroblasts from amniotic fluid: their relationship to enzymatic and cytologic analysis.

S. Melançon, H. Nadler, A. Gerbie, 1972, American journal of obstetrics and gynecology.

Effect of culture conditions on enzyme activities in cultivated human fibroblasts.

H. Nadler, C. Ryan, S. Y. Lee, 1972, Experimental cell research.

Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease

T. Momoi, H. Nadler, Y. Ben-yoseph, 1983, Journal of Inherited Metabolic Disease.

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

H. Nadler, J. E. Reid, B. Shapiro, 1985, American journal of human genetics.

Mandibulo-facial dysostosis. (Treacher-Collins syndrome).

H. Nadler, J. Elmore, L. Fazen, 1967, American journal of diseases of children.

Metabolic disorders associated with mental retardation.

D. Hsia, P. Justice, H. Nadler, 1968, Pediatric clinics of North America.

Catalytically defective ganglioside neuraminidase in mucolipidosis IV

T. Momoi, H. Nadler, Y. Ben-yoseph, 1982, Clinical genetics.

A chemical method for the antenatal diagnosis of mucopolysaccharidoses.

R. Matalon, A. Dorfman, H. Nadler, 1970, Lancet.

The Chicago variant of clinical galactosemia

C. M. Chacko, R. Wappner, H. Nadler, 1977, Human Genetics.

Prenatal detection of genetic disorders.

H. Nadler, 1972, Advances in human genetics.

Lactosyl ceramidosis: deficient activity of neutral beta-galactosidase in liver and cultivated fibroblasts?

B. Burton, H. Nadler, Y. Ben-yoseph, 1978, Clinica chimica acta; international journal of clinical chemistry.

Intrauterine detection of GM1 gangliosidosis, type 2.

H. Nadler, A. Gerbie, C. Booth, 1973, Pediatrics.

Deficiency of Arginine Esterase in Cystic Fibrosis of the Pancreas: Demonstration of the Proteolytic Nature of the Activity

H. Nadler, G. S. Rao, 1975, Pediatric Research.

Characterization of the coagulant activity of cultured human fibroblasts.

H. Nadler, C. Ryan, D. Green, 1971, Blood.

Heritable disorders of amino acid metabolism: Patterns of clinical expression and genetic variation.

H. Nadler, 1975 .

Fetal tissue transplantation.

H. Nadler, 1989, American journal of diseases of children.

Epinephrine Metabolism in Phenylketonuria.∗

D. Hsia, H. Nadler, 1961, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

COMPARISON OF STRUCTURAL AND FUNCTIONAL PROPERTIES OF α2‐MACROGLOBULIN IN CONTROLS AND CYSTIC FIBROSIS PATIENTS

E. Shapira, H. Nadler, 1983, Annals of the New York Academy of Sciences.

Tissue culture and antenatal detection of molecular diseases.

H. Nadler, 1972, Biochimie.

Citrullinemia: prenatal diagnosis of an affected fetus.

H. Nadler, C. Harris, D. Mitchell, 1983, American journal of human genetics.

In vitro "responsive" methylmalonic acidemia: a new variant.

C. Kaye, H. Nadler, G. Morrow, 1974, The Journal of pediatrics.

Enzymes in noncultured amniotic fluid cells.

H. Nadler, A. Gerbie, 1969, American journal of obstetrics and gynecology.

Mannosidosis: separation and characterization of two acid alpha-mannosidase forms in mutant fibroblasts.

B. Burton, H. Nadler, 1978, Enzyme.

Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls.

T. Momoi, H. Nadler, Y. Ben-yoseph, 1982, The Biochemical journal.

Histidase Activity in Cultivated Human Amniotic Fluid Cells

H. Nadler, Serge B. Melancon, Sally Y. Lee, 1971, Science.

Enzyme changes and polyribosome profiles in phytohemagglutinin stimulated lymphocytes.

R. Dowben, D. Hsia, H. Nadler, 1969, Blood.

Enzymes in trisomy-18 syndrome.

T. Inouye, D. Hsia, H. Nadler, 1966, Lancet.

Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration.

R. Rousson, M. Fiddler, H. Nadler, 1979, Biochemical Journal.

Binding of human liver hydrolases by immobilized lectins.

M. Fiddler, H. Nadler, Y. Ben-yoseph, 1979, Biochemical Journal.

BIOCHEMICAL CHANGES IN CHROMOSOMAL ABNORMALITIES *

L. Shih, D. Hsia, H. Nadler, 1968 .

ISOENZYMES IN DOWN'S SYNDROME

D. Hsia, H. Nadler, P. Monteleone, 1967 .

Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid

H. Nadler, 1968, Biochemical Genetics.

Deficiency of Lysosomal Acid Phosphatase

T. Egan, H. Nadler, 1970 .

Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism

B. Burton, H. Nadler, 1986 .

Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis

B. Burton, H. Nadler, A. Gerbie, 1979 .

10 – Amniotic Cell Culture

H. Nadler, C. Ryan, 1974 .

Role of amniocentesis in the intrauterine detection of genetic disorders.

H. Nadler, A. Gerbie, 1970, The New England journal of medicine.

Enhancement of UDPgalactose: glycoprotein galactosyltransferase in cultured human skin fibroblasts by cationic polypeptides.

D. Chyatte, H. Nadler, G. Jagga Rao, 1978, Biochimica et biophysica acta.

Polyribosomes from L cells.

R. Dowben, D. Hsia, H. Nadler, 1969, Experimental cell research.

Lymphocyte and granulocyte enzyme activity in patients with Down's syndrome.

T. Inouye, D. Hsia, H. Nadler, 1967, Blood.

Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism)

T. Inouye, D. Hsia, P. Justice, 1967, Nature.

Enzymes in cultivated human fibroblasts derived from patients with autosomal trisomy syndromes.

T. Inouye, D. Hsia, H. Nadler, 1967, American journal of human genetics.

Intracellular organelles and enzymes in cell-free amniotic fluid☆

H. Nadler, I. Salafsky, 1971 .

Deficiency of acid alpha glucosidase in the urine of patients with Pompe's disease.

H. Nadler, I. Salafsky, 1973, The Journal of pediatrics.

Intrauterine detection of cystic fibrosis.

H. Nadler, M. M. Walsh, 1980, Pediatrics.

A K+-activated, ethacrynic acid-sensitive p-nitrophenylphosphatase from normal human white cells.

M. D. Del Monte, H. Nadler, G. Jagga Rao, 1971, Biochimica et biophysica acta.

Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

C. M. Chacko, H. Nadler, M. Rachmeler, 1970, Proceedings of the National Academy of Sciences of the United States of America.

Mannosylation of glycoproteins and dolichol derivatives in fibroblasts from patients with cystic fibrosis.

H L Nadler, Y Ben-Yoseph, C L DeFranco, 1982, Biochimica et biophysica acta.

Decreased sialic acid and altered binding to lectins of purified alpha 2-macroglobulin from patients with cystic fibrosis.

H. Nadler, Y. Ben-yoseph, C. Defranco, 1979, Clinica chimica acta; international journal of clinical chemistry.

Immunologic Studies of Arylsulfatase A in Normal and Metachromatic Leukodystrophy Liver

E. Shapira, H. Nadler, R. Degregorio, 1978, Pediatric Research.

Alpha-1,4 glucosidase activity in Pompe's disease.

H. Nadler, I. Salafsky, 1971, The Journal of pediatrics.

ANTENATAL DETECTION OF CYSTIC FIBROSIS

H. Nadler, P. Rembelski, K. Mesirow, 1982 .

Uridine diphosphoglucose pyrophosphorylase and uridine diphosphogalactose pyrophosphorylase in human skin fibroblasts derived from normal and galactosemic individuals.

C. M. Chacko, H. Nadler, L. McCrone, 1972, Biochimica et biophysica acta.

α-1,4 Glucosidase activity in Pompe's disease

H. Nadler, I. Salafsky, 1971, Pediatric Research.

A NEW VARIANT OF GALACTOSEMIA

C. M. Chacko, R. Wappner, H. Nadler, 1974, Pediatric Research.

Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.

C. M. Chacko, H. Nadler, J. C. Christian, 1971, The Journal of pediatrics.

Galactose-I-phosphate uridyltransferase in red and white blood cells.

T. Inouye, H. Nadler, Y. Hsia, 1968, Clinica chimica acta; international journal of clinical chemistry.

Unstable Galactose-1-phosphate Uridyl Transferase: A New Variant of Galactosemia

C. M. Chacko, H. Nadler, J. C. Christian, 1970, Pediatric Research.

Unstable galactose-l-phosphate uridyl transferase: A neff rariant of galactosemia

C. M. Chacko, H. Nadler, J. C. Christian, 1971 .

Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency.

J. Herman, H. Nadler, 1977, The Journal of pediatrics.

In-utero detection of type-II glycogenosis (pompe's disease).

A. Messina, H. Nadler, A. Messina, 1969, Lancet.

Deficiency of Kallikrein Activity in Plsma of Patients with Cystic Fibrosis

H. Nadler, G. Jagga Rao, L. A. Posner, 1972, Science.

Treatment of acid phosphatase deficiency disorders.

H. Nadler, 1973, Birth defects original article series.

Electrophoretic mobility of glucose-6-phosphate dehydrogenase in lymphocytes and granulocytes.

D. Hsia, P. Justice, H. Nadler, 1967, Clinica chimica acta; international journal of clinical chemistry.

Demonstration of the heterozygous state in Hunter's syndrome.

H. Nadler, C. Booth, 1974, Pediatrics.

HYPOGLYCEMIA, GROWTH RETARDATION, AND PROBABLE ISOLATED GROWTH HORMONE DEFICIENCY IN A 1-YEAR-OLD CHILD.

H. Nadler, H. Gershberg, L. Neumann, 1963, The Journal of pediatrics.

Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts.

M. Evans, S. Bottoms, H. Nadler, 1986, Clinica chimica acta; international journal of clinical chemistry.

Plasma infusions in an infant with Hurler's syndrome.

H. Nadler, C. Booth, 1973, Jornal de Pediatria.

X-linked hydrocephalus.

H. Nadler, M. Shannon, 1968, Journal of medical genetics.

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.

E. Shapira, R. Matalon, H. Nadler, 1975, Biochemical and biophysical research communications.

Cultivated amniotic-fluid cells and fibroblasts derived from families with cystic fibrosis.

H. Nadler, M. O'Flynn, J. Wodnicki, 1969, Lancet.

Purification and some properties of soluble human liver arylsulfatases.

E. Shapira, H. Nadler, 1975, Archives of biochemistry and biophysics.

Problems associated with the determination of arylsulfatase A and B using nitrocatechol sulfate substrate.

E. Shapira, H. Nadler, 1975, Clinica chimica acta; international journal of clinical chemistry.

American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism.

N. Holtzman, A. Manley, R. Howell, 1982, Pediatrics.

The future of pediatrics.

H. Nadler, W. Evans, 1987, American journal of diseases of children.

Reaction of 4-Methylumbelliferylguanidinobenzoate with Cultivated Human Skin Fibroblasts Derived from Patients with Cystic Fibrosis

H. Nadler, G. S. Rao, M. Platt, 1978, Pediatric Research.

Reaction of 4-methylumbelliferylguanidinobenzoate with proteases in plasma of patients with cystic fibrosis.

H. Nadler, G. Jagga Rao, M. Platt, 1978, Enzyme.

Schilder's Disease: Abnormal Cholesterol Retention and Accumulation in Cultivated Fibroblasts

B. Burton, H. Nadler, 1974, Pediatric Research.

Enzyme studies during lymphocyte stimulation with phytohemagglutinin in Down's syndrome.

D. Hsia, H. Nadler, P. Monteleone, 1967, Life sciences.

Role of the General Pediatrician in Genetics

H. Nadler, 1981, Pediatrics In Review.

Genetic amniocentesis in twin gestations.

J. Simpson, R. Sabbagha, S. Elias, 1980, American journal of obstetrics and gynecology.

Therapeutic delirium in Reye's syndrome.

H. Nadler, 1974, Pediatrics.

Polyhydramnios, congenital malformations, and intrauterine detection

H. Nadler, 1977, Pediatrics.

Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.

B. Brown, A. Khachadurian, S. Melançon, 1973, The Journal of pediatrics.

A study of galactokinase and glucose 4-epimerase from normal and galactosemic skin fibroblasts.

C. M. Chacko, H. Nadler, L. McCrone, 1972, Biochimica et biophysica acta.

Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia

C. Scriver, M. Feingold, H. Nadler, 1977, Pediatrics.

Hawkinsinuria in two families.

W. Nyhan, L. Sweetman, H. Nadler, 1992, American journal of medical genetics.

Fabry's disease: absence of an -galactosidase isozyme.

H. Nadler, S. Wood, 1972, American journal of human genetics.

The Metabolism of Sialic Acid in Cystic Fibrosis

H. Nadler, Y. Ben-yoseph, C. Defranco, 1981, Pediatric Research.

PRENATAL DETECTION OF CYSTIC FIBROSIS ON AMNIOTIC FLUID

H. Nadler, M. M. Walsh, 1980, The Lancet.

Normal two-dimensional gel electrophoresis of alpha-2-macroglobulin in cystic fibrosis.

D. Comings, H. Nadler, Y. Ben-yoseph, 1980, American Journal of Human Genetics.

METHYLUMBELLIFERYL-GUANIDINOBENZOATE REACTIVE PROTEASES IN AMNIOTIC FLUID: POSSIBLE MARKER FOR CYSTIC FIBROSIS

H. Nadler, M. M. Walsh, 1979, The Lancet.

Protease deficiency in plasma of patients with cystic fibrosis. Reduced reaction of 4-methylumbelliferylguanidinobenzoate with plasma of patients with cystic fibrosis.

H. Nadler, G. Jagga Rao, M. Walsh-Platt, 1979, Enzyme.

Comparison between purified alpha2-macroglobulin preparations from normal controls and patients with cystic fibrosis. Kinetic and structural properties of the complex with bovine trypsin.

E. Shapira, H. Nadler, C. L. Martin, 1977, The Journal of biological chemistry.

Abnormal breakdown of α2-macroglobulin-trypsin complex in cystic fibrosis

E. Shapira, H. Nadler, Y. Ben-yoseph, 1977 .

Absence of an α2-Macroglobulin-Protease Complex in Cystic Fibrosis

E. Shapira, H. Nadler, H. Wessel, 1976, Pediatric Research.

Decreased formation of α2-macroglobulin-protease complexes in plasma of patients with cystic fibrosis

E. Shapira, H. Nadler, Y. Ben-yoseph, 1976 .

Deficiency of trypsin-like activity in saliva of patients with cystic fibrosis.

H. Nadler, G. Jagga Rao, 1972, The Journal of pediatrics.

Absence of a Serum Factor in Patients with Cystic Fibrosis

H. Nadler, L. Chou, 1976, Pediatric Research.

Nager acrofacial dysostosis: report of a case.

B. Burton, H. Nadler, 1977, Jornal de Pediatria.

LEUCOCYTE TRANSFERASE IN NEGROES

T. Inouye, D. Hsia, H. Nadler, 1967 .

Pompe's Disease: Detection of Heterozygotes by Lymphocyte Stimulation

K. Hirschhorn, B. Brown, R. Hirschhorn, 1969, Science.

Brain β-Galactosidase and Gm1 Gangliosidosis

C. Kaye, H. Nadler, L. Chou, 1974, Pediatric Research.

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation.

M. Potier, S. Melançon, H. Nadler, 1986, The Biochemical journal.

Bilirubin Toxicity in Human Cultivated Fibroblasts and its Modification by Light Treatment

H. Nadler, J. Haddock, 1970, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

Congenital scalp defects with distal limb anomalies: Report of a family

B. Burton, H. Nadler, Lynn Hauser, 1976, Journal of medical genetics.

Metachromatic granules in cultivated fibroblasts derived from patients with genetic disorders.

H. Nadler, 1969, Jornal de Pediatria.

Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.

C. Kaye, H. Nadler, D. Meeker, 1977, The Cleft palate journal.

Mandibulo-facial dysostosis. (Treacher-Collins syndrome).

H. Nadler, J. Elmore, L. Fazen, 1967, American journal of diseases of children.

In vitro selection for the Hunter gene.

H. Nadler, C. Booth, 1973, The New England journal of medicine.

Amniocentesis in genetic counseling. Safety and reliability in early pregnancy.

H. Nadler, A. Gerbie, M. Gerbie, 1971, American journal of obstetrics and gynecology.

Prenatal detection of Pompe's disease.

R. Bigley, H. Nadler, G. Hug, 1970, Lancet.

Enhanced UDP-Galactose: Glycoprotein Galactosyl Transferase Activity in Cultivated Skin Fibroblasts from Patients with Cystic Fibrosis and Its Possible Relationship to the Pathogenesis of the Disease

H. Nadler, G. S. Rao, G. Spells, 1977, Pediatric Research.

The Free Amino Acid Pool of Cultivated Human Skin Fibroblasts

S. Melançon, H. Nadler, J. Tayco, 1972, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

Adenyl cyclase activity in cultivated human skin fibroblasts.

M. D. Del Monte, H. Nadler, G. Jagga Rao, 1971, Nature: New biology.

Correction of γ-Glutamyl Transpeptidase Deficiency in Amniotic Fluid of Some Cystic Fibrosis Fetuses by Mixing with Nondeficient Fluids

H. Nadler, P. Rembelski, Y. Ben-yoseph, 1984, Pediatric Research.

Mannosidosis: clinical and biochemical studies in a family of affected adolescents and adults.

H. Nadler, K. K. Chen, C. Booth, 1976, The Journal of pediatrics.

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

M. Evans, F. Qureshi, H. Nadler, 1988, American journal of medical genetics.