Advances in the prenatal diagnosis of hematologic diseases

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

1982 • 937 citations

Demonstration von fetalem H�moglobin in den Erythrocyten eines Blutausstrichs

1957 • 818 citations

Bloom’s Syndrome

1995 • 422 citations

Isolation and characterization of a cDNA coding for human factor IX.

1982 • 415 citations

Hematologic Problems in the Newborn

1972 • 276 citations

FIRST-TRIMESTER FETAL DIAGNOSIS FOR HAEMOGLOBINOPATHIES: THREE CASES

1982 • 269 citations

DIRECT INTRAVASCULAR FETAL BLOOD TRANSFUSION BY FETOSCOPY IN SEVERE RHESUS ISOIMMUNISATION

1981 • 240 citations

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.

1983 • 232 citations

Prenatal Diagnosis of β-Thalassemia

1983 • 193 citations

DIRECT GENE ANALYSIS OF CHORIONIC VILLI: A POSSIBLE TECHNIQUE FOR FIRST-TRIMESTER ANTENATAL DIAGNOSIS OF HAEMOGLOBINOPATHIES

1981 • 189 citations

A new procedure for fetal blood sampling in utero: Preliminary results of fifty-three cases

1983 • 183 citations

In Utero Diagnosis of Hemoglobinopathies

1974 • 172 citations

Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX

1983 • 163 citations

Prenatal Diagnosis of Hemoglobinopathies

1976 • 163 citations

Prenatal Diagnosis of Chronic Granulomatous Disease

1979 • 153 citations

Isolation and sequence characterization of a cDNA clone of human antithrombin III.

1983 • 145 citations

Prenatal Diagnosis Using DNA Polymorphisms

1983 • 139 citations

Prenatal Diagnosis of Sickle-Cell Anemia in the First Trimester of Pregnancy

1983 • 137 citations

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.

1983 • 136 citations

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

1983 • 120 citations

FETOSCOPY GUIDED BY REAL‐TIME ULTRASOUND FOR PURE FETAL BLOOD SAMPLES, FETAL SKIN SAMPLES, AND EXAMINATION OF THE FETUS IN UTERO

1980 • 115 citations

ADENOSINE-DEAMINASE DEFICIENCY IN A CHILD DIAGNOSED PRENATALLY

1975 • 106 citations

Prenatal Diagnosis of Classic Hemophilia

1979 • 105 citations

Studies of circulating hemopoietic progenitor cells in human fetal blood

1982 • 94 citations

Prenatal Diagnosis of Duchenne's Muscular Dystrophy

1977 • 92 citations

Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.

1983 • 91 citations

Successful Application of Prenatal Diagnosis in a Pregnancy at Risk for Homozygous β-Thalassemia

1975 • 87 citations

Isolation of a cDNA clone for human X-linked 3-phosphoglycerate kinase by use of a mixture of synthetic oligodeoxyribonucleotides as a detection probe.

1983 • 85 citations

Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.

1975 • 83 citations

FETAL BLOOD-SAMPLING IN UTERO

1974 • 81 citations

The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.

1983 • 63 citations

A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome

1983 • 60 citations

Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia

1974 • 58 citations

Prenatal diagnosis of ataxia telangiectasia

1982 • 50 citations

Prenatal diagnosis of thrombocytopenia with absent radii

1979 • 49 citations

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency by steroid analysis in the amniotic fluid of mid‐pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

1981 • 47 citations

PRENATAL DIAGNOSIS OF HAEMOGLOBINOPATHIES: A STATUS REPORT

1981 • 44 citations

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

1980 • 40 citations

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.

1979 • 38 citations

Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair

1979 • 38 citations

Prenatal testing for inherited immune deficiencies by fetal blood sampling

1982 • 37 citations

Prenatal diagnosis of hemoglobin disorders by DNA analysis

1984 • 37 citations

Prospects for Radiographic Intrauterine Diagnosis — The Syndrome of Thrombocytopenia with Absent Radii

1973 • 35 citations

DUAL DIAGNOSIS OF PRENATAL HÆMOPHILIA A BY MEASUREMENT OF FETAL FACTOR VIIIC AND VIIIC ANTIGEN (VIIICAg)

1980 • 35 citations

Pure fetal blood from the umbilical cord obtained at fetoscopy: Experience with 125 consecutive cases

1980 • 31 citations

Prenatal diagnosis of severe combined immunodeficiency

1982 • 29 citations

Selective hemolysis of adult red blood cells: an aid to prenatal diagnosis of hemoglobinopathies

1979 • 28 citations

Normal activities of glycolytic enzymes in the fetal erythrocytes

1982 • 25 citations

Prenatal diagnosis of a galactosaemia heterozygote by fetal blood enzyme assay.

1979 • 22 citations

Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood

1983 • 21 citations

Prenatal Diagnosis of Alpha1-Antitrypsin Deficiency by Analysis of Fetal Blood Obtained at Fetoscopy

1981 • 21 citations

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

1981 • 20 citations

PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES: THE NEW ENGLAND APPROACH*

1980 • 15 citations

OBSTETRIC OUTCOME AND PROBLEMS OF MID‐TRIMESTER FETAL BLOOD SAMPLING FOR ANTENATAL DIAGNOSIS

1981 • 13 citations

Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b₅ reductase deficiency: First report of two cases

1981 • 13 citations

Prenatal exclusion of severe combined immunodeficiency

1982 • 13 citations

Prenatal chromosomal analysis of fetal blood obtained at fetoscopy.

1980 • 12 citations

ABO and Rh phenotyping of foetal blood obtained by foetoscopy

1978 • 11 citations

Antenatal diagnosis of haemoglobinopathies by Biorex chromatography of haemoglobin

1982 • 10 citations

In utero paternity testing utilizing fetal blood obtained by midtrimester fetoscopy.

1980 • 9 citations

Prenatal diagnosis for adenosine deaminase deficiency.

1981 • 9 citations

Hemophilia A and B — two years ex‐perience of genetic counselling and prenatal diagnosis

1982 • 8 citations

Prenatal diagnosis of heterozygous beta-thalassemia.

1976 • 7 citations

Prenatal diagnosis of hemoglobinopathies: evaluation of techniques for analysing globin-chain synthesis in blood samples obtained by fetoscopy.

1982 • 4 citations

The Use of Fetal Blood for the Prenatal Diagnosis of Genetic Defects

2015 • 4 citations

Fetal blood sampling.

1982 • 4 citations

Antenatal diagnosis of sickle cell disease: amniotic fluid cell DNA analysis.

1982 • 2 citations

Transvaginal Fetoscopy in Anterior Placentas

1980 • 1 citations

Prenatal diagnosis of thalassaemia and fetal red cell microcytosis

1982 • 1 citations