Published in Prenat Diagn on July 01, 1999
A microfluidics approach for the isolation of nucleated red blood cells (NRBCs) from the peripheral blood of pregnant women. Prenat Diagn (2008) 1.63
Nucleated red blood cells count in pregnancies with idiopathic intra-uterine growth restriction. J Family Reprod Health (2014) 0.75
[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping]. Ned Tijdschr Geneeskd (2007) 2.71
Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics (2000) 2.16
High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. Genomics (1992) 1.74
Risk of amniocentesis and laboratory findings in a series of 1500 prenatal diagnoses. Prenat Diagn (1981) 1.69
Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod (2004) 1.57
Progression from colorectal adenoma to carcinoma is associated with non-random chromosomal gains as detected by comparative genomic hybridisation. J Clin Pathol (1998) 1.54
Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J (2003) 1.52
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Genetic aspects of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol (2000) 1.42
[Invasive prenatal diagnosis in the Netherlands, 1991-2000: number of procedures, indications and abnormal results detected]. Ned Tijdschr Geneeskd (2004) 1.40
Absence of deleted in azoospermia (DAZ) genes in spermatozoa of infertile men with somatic DAZ deletions. Fertil Steril (2001) 1.40
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord (1999) 1.32
High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet (1992) 1.31
Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet (1994) 1.23
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet (1998) 1.16
A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet (1987) 1.15
Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. Eur J Pediatr (1985) 1.13
"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature. Hum Genet (1979) 1.08
Monosomy X found at first trimester CVS: a diagnostic and counselling dilemma. Clin Genet (1990) 1.07
Genetic counseling for hereditary cancer: a pilot study on experiences of patients and family members. Patient Educ Couns (1997) 1.05
Risks of midtrimester amniocentesis; assessment in 3000 pregnancies. Br J Obstet Gynaecol (1985) 1.00
Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Hum Reprod (2006) 1.00
Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum Reprod Update (2011) 0.99
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet (2009) 0.96
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet (1997) 0.96
Five familial cases with a trisomy 16p syndrome due to translocation. Clin Genet (1979) 0.95
Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis. Clin Genet (1986) 0.94
The distal region of 11p13 and associated genetic diseases. Genomics (1991) 0.91
Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn (1999) 0.91
Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs. Cytogenet Cell Genet (1993) 0.90
Use of automated microscopy for the detection of disseminated tumor cells in bone marrow samples. Cytometry (2001) 0.90
Human synaptonemal complex protein 1 (SCP1): isolation and characterization of the cDNA and chromosomal localization of the gene. Genomics (1997) 0.90
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology (2011) 0.90
An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics (1994) 0.89
Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage. Prenat Diagn (2008) 0.89
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome? Clin Dysmorphol (2000) 0.89
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet (1995) 0.88
The generation of ordered sets of cosmid DNA clones from human chromosome region 11p. Genomics (1992) 0.87
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. Clin Genet (1996) 0.87
Partial trisomy 10q: a recognizable syndrome. Hum Genet (1979) 0.86
Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter. Genomics (1997) 0.86
A comparison of counselee and counselor satisfaction in reproductive genetic counseling. Clin Genet (2007) 0.85
Co-variables in first trimester maternal serum screening. Prenat Diagn (2000) 0.85
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet (1999) 0.85
Imprinting and Beckwith-Wiedemann syndrome. Lancet (1992) 0.84
Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization. Prenat Diagn (1993) 0.83
Further delineation of the partial proximal trisomy 10q syndrome. J Med Genet (1995) 0.83
Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics. Clin Genet (2004) 0.83
Fetal limb constriction: a possible complication of CVS. Prenat Diagn (1989) 0.83
Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. Am J Med Genet (1998) 0.82
De novo partial trisomy 15q (proximal type). J Med Genet (1988) 0.82
Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23. Cytogenet Cell Genet (1989) 0.81
First trimester prenatal diagnosis of haemophilia A: two years' experience. Prenat Diagn (1988) 0.81
A critical analysis of 75 therapeutic abortions. Early Hum Dev (1985) 0.81
Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet (1994) 0.81
Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status? Hum Reprod (2010) 0.81
Isolation and characterization of the human SCP2 cDNA and chromosomal localization of the gene. Mamm Genome (1999) 0.80
Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome. Ultrasound Obstet Gynecol (1999) 0.79
A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Eur J Hum Genet (2001) 0.79
Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis. Mol Hum Reprod (2004) 0.79
Knowledge and perceived risks in couples undergoing genetic testing after recurrent miscarriage or for poor semen quality. Reprod Biomed Online (2011) 0.78
Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood. Am J Hum Genet (1998) 0.78
Development of guideline-based quality indicators for recurrent miscarriage. Reprod Biomed Online (2009) 0.78
Women's experiences with second trimester prenatal diagnosis. Prenat Diagn (1982) 0.78
[Prenatal diagnosis for hereditary predisposition to mammary and ovarian carcinoma--defining a position]. Ned Tijdschr Geneeskd (2002) 0.78
A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1). Clin Dysmorphol (1999) 0.77
Management of recurrent miscarriage: evaluating the impact of a guideline. Hum Reprod (2007) 0.77
Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11. J Gen Virol (1988) 0.77
A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy. Neuromuscul Disord (1998) 0.77
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet (2000) 0.77
Cytogenetic characteristics of ectopic pregnancy. Hum Reprod (1996) 0.77
SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214). Hum Genet (1981) 0.77
Holoprosencephaly associated with ring chromosome 21. Clin Genet (1987) 0.77
Amniotic fluid alpha-fetoprotein levels and the prenatal diagnosis of neural tube defects: a collaborative study of 2180 pregnancies in the Netherlands. Br J Obstet Gynaecol (1978) 0.76
[From gene to disease; primary open-angle glaucoma and three known genes: MYOC, CYP1B1 and OPTN]. Ned Tijdschr Geneeskd (2004) 0.76
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet (1996) 0.76
An integrated map of chromosome 18 CAG trinucleotide repeat loci. Eur J Hum Genet (1999) 0.76
Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters. Eur J Obstet Gynecol Reprod Biol (1980) 0.75
First-trimester non-invasive prenatal diagnosis of triploidy. Prenat Diagn (1999) 0.75
[Examples of preimplantation genetic diagnosis versus prenatal diagnosis in carriers of genetic abnormalities: advantages and disadvantages]. Ned Tijdschr Geneeskd (2008) 0.75
FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse. Mamm Genome (1997) 0.75
Prenatal diagnosis of a de novo Y/22 translocation. J Med Genet (1978) 0.75
[Does the (imminent) miscarriage standard of the Dutch College of Family Physicians correspond to its management by gynecologists]. Ned Tijdschr Geneeskd (1995) 0.75
[Social support following induced abortion for genetic indications: experiences of the women concerned and their partners]. Ned Tijdschr Geneeskd (1992) 0.75
Slit-scanning technique using standard cell sorter instruments for analyzing and sorting nonacrocentric human chromosomes, including small ones. Cytometry (1994) 0.75
High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members. Genomics (1993) 0.75
Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins. Br J Obstet Gynaecol (1992) 0.75
[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities]. Ned Tijdschr Geneeskd (2006) 0.75