Published in Obstet Gynecol on March 01, 1985
The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet (1990) 1.04
Selective chromosome analysis in couples with two or more miscarriages: case-control study. BMJ (2005) 0.96
Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. BMJ (2006) 0.90
A case of partial trisomy 3p syndrome with rare clinical manifestations. Korean J Pediatr (2012) 0.78
Genetic counseling in carriers of reciprocal translocations involving two autosomes. Indian J Hum Genet (2012) 0.75
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. Mol Cytogenet (2016) 0.75
Spontaneous abortion rate and advanced maternal age: consequences for prenatal diagnosis. Lancet (1990) 2.61
Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat Diagn (1987) 1.70
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod (2002) 1.61
Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure. Prenat Diagn (1992) 1.50
Is familial hemiplegic migraine a hereditary form of basilar migraine? Cephalalgia (1995) 1.46
The risk of spina bifida aperta after first-trimester exposure to valproate in a prenatal cohort. Neurology (1992) 1.43
The role of ultrasound in the early diagnosis of fetal structural defects following maternal anticonvulsant therapy. Ultrasound Med Biol (1988) 1.42
Polyclonal hyper-immunoglobulin G1(A1) syndrome. Evidence for a dominant immunoglobulin production regulator within the human immunoglobulin heavy chain gene complex. Hum Genet (1989) 1.39
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics (1991) 1.35
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. Genomics (1990) 1.21
Genetic heterogeneity in tuberous sclerosis. Genomics (1990) 1.18
First trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet (1983) 1.17
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet (1998) 1.16
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet (1989) 1.14
Mechanisms of copper incorporation into human ceruloplasmin. J Biol Chem (2002) 1.13
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
Humoral regulation of monocytopoiesis during the early phase of an inflammatory reaction caused by particulate substances. Blood (1977) 1.10
Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum Genet (1980) 1.09
The 5a-chromosome abnormality in haematological disorders: a collaborative study of 34 cases from the Netherlands. Br J Haematol (1982) 1.08
First-trimester diagnosis of recurrence of cystic hygroma using a vaginal ultrasound transducer. Eur J Obstet Gynecol Reprod Biol (1987) 1.03
The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma. Prenat Diagn (1987) 1.02
A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. Ann N Y Acad Sci (1991) 1.01
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. J Med Genet (1990) 1.00
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet (2013) 1.00
Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET). Prenat Diagn (1995) 0.99
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. Hum Genet (1986) 0.98
Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am J Med Genet Suppl (1990) 0.96
Prenatal diagnosis of X-linked hydrocephaly. Prenat Diagn (1983) 0.91
CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3). Pediatr Dev Pathol (1999) 0.90
Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat Diagn (1987) 0.90
Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet (1993) 0.89
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. J Med Genet (2000) 0.88
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. Hum Reprod (1997) 0.88
X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum Genet (1987) 0.87
Etiological studies of severe or familial hypospadias. J Urol (2001) 0.87
Prenatal diagnosis of genetic disorders. J Med Genet (1976) 0.87
Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome. Am J Hum Genet (1991) 0.85
The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clin Genet (1983) 0.85
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. Am J Med Genet (2001) 0.85
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. EMBO J (1989) 0.85
Clinical evidence for localisation of HLA proximal of chromosome 6p22. Lancet (1983) 0.85
Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol (2001) 0.84
Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis. Prenat Diagn (1993) 0.84
Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study. Prenat Diagn (1989) 0.84
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet (1995) 0.84
Prenatal detection of major cystic fibrosis mutation. Lancet (1989) 0.83
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics (1988) 0.83
Diagnosis of severe fetal cytomegalovirus infection from amniotic fluid in the third trimester of pregnancy. Am J Obstet Gynecol (1982) 0.82
Microtubules in human aortic intimal cells. Z Zellforsch Mikrosk Anat (1966) 0.82
The absolute quantification of human IgM and IgG: standardization and normal values. J Immunol Methods (1982) 0.82
Fetal cystic hygroma: prenatal diagnosis and management. Obstet Gynecol (1988) 0.82
An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age. Hum Genet (1977) 0.82
Diagnosis of Wiskott-Aldrich syndrome by analysis of the X chromosome inactivation patterns in maternal leucocyte populations using the hypervariable DXS255 locus. Clin Exp Immunol (1991) 0.82
Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation. J Med Genet (1981) 0.81
Ring chromosome 2: clinical, chromosomal, and biochemical aspects. Hum Genet (1982) 0.81
Limited size of the fragile X site shown by fluorescence in situ hybridization. Am J Med Genet (1992) 0.80
The impact of phenotypic variation on genetic analysis: application to X-linkage in manic-depressive illness. Acta Psychiatr Scand (1990) 0.80
Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies. Am J Med Genet (1990) 0.80
Genetic amniocentesis in twin pregnancies. Br J Obstet Gynaecol (1988) 0.79
Association of particular HLA class II alleles, haplotypes and genotypes with susceptibility to IDDM in the Belgian population. Diabetologia (1994) 0.79
Chromosome 22q11 deletions in patients with selected outflow tract malformations. Genet Couns (1999) 0.79
Fetal aneuploidy diagnosed by fluorescence in-situ hybridisation within 24 hours after amniocentesis. Lancet (1993) 0.79
Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection. Hum Reprod (1997) 0.78
Fetal echocardiography: a review of six years experience. Fetal Ther (1987) 0.78
Fetal loss rate after chorionic villus sampling and subsequent amniocentesis. Am J Med Genet (1990) 0.78
Prenatal cytogenetic and postnatal molecular studies on 46,XX male. Lancet (1992) 0.78
Linkage and Tourette syndrome. Lancet (1991) 0.78
Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Hum Genet (1991) 0.78
Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am J Med Genet (1999) 0.77
Paracentric inversion inv(11)(q21q23) in The Netherlands. Hum Genet (1990) 0.77
Effects of autolysis in vitro on the fine structure of human aortic intimal cells. J Atheroscler Res (1967) 0.77
The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis. Hum Genet (1990) 0.77
Transcervical (TC) and transabdominal (TA) CVS for prenatal diagnosis in Rotterdam: experience with 3611 cases. Prenat Diagn (1991) 0.77
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. Clin Genet (1987) 0.77
Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. Am J Med Genet (1990) 0.77
Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies. Prenat Diagn (1989) 0.76
Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects. Am J Med Genet (1988) 0.76
Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS, a patient's choice or lack of information? Prenat Diagn (1991) 0.76
Early diagnosis in X-linked agammaglobulinaemia. Eur J Pediatr (1988) 0.76
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. Am J Med Genet (1990) 0.76
The recognition of abnormal sex chromosome constitution by HLA-restricted anti-H-Y cytotoxic T cells and antibody. Immunogenetics (1983) 0.76
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. J Craniofac Surg (1998) 0.76
Genetic amniocentesis in twin pregnancies: results of a multicenter study of 529 cases. Ultrasound Obstet Gynecol (1992) 0.76
Chorionic villus sampling and materno-fetal transfusions: an immunological pathogenesis of vascular disruptive syndromes? Prenat Diagn (1996) 0.76
Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. Am J Med Genet (2001) 0.76