Published in Clin Genet on September 01, 1986
Prenatal prediction of spinal muscular atrophy. J Med Genet (1992) 1.09
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. J Med Genet (1991) 1.00
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol (2005) 0.95
Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. Am J Hum Genet (1992) 0.91
[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping]. Ned Tijdschr Geneeskd (2007) 2.71
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
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
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
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol (1996) 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
Five familial cases with a trisomy 16p syndrome due to translocation. Clin Genet (1979) 0.95
Spinal muscular atrophy and hypertrophy of the calves. J Neurol Sci (1980) 0.91
Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. Prenat Diagn (1999) 0.91
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
Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage. Prenat Diagn (2008) 0.89
Partial trisomy 10q: a recognizable syndrome. Hum Genet (1979) 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
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
De novo partial trisomy 15q (proximal type). J Med Genet (1988) 0.82
A critical analysis of 75 therapeutic abortions. Early Hum Dev (1985) 0.81
Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system. Prenat Diagn (1999) 0.81
First trimester prenatal diagnosis of haemophilia A: two years' experience. Prenat Diagn (1988) 0.81
Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status? Hum Reprod (2010) 0.81
Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis. Mol Hum Reprod (2004) 0.79
A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Eur J Hum Genet (2001) 0.79
Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome. Ultrasound Obstet Gynecol (1999) 0.79
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
Knowledge and perceived risks in couples undergoing genetic testing after recurrent miscarriage or for poor semen quality. Reprod Biomed Online (2011) 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
SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214). Hum Genet (1981) 0.77
Management of recurrent miscarriage: evaluating the impact of a guideline. Hum Reprod (2007) 0.77
Cytogenetic characteristics of ectopic pregnancy. Hum Reprod (1996) 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
[From gene to disease; primary open-angle glaucoma and three known genes: MYOC, CYP1B1 and OPTN]. Ned Tijdschr Geneeskd (2004) 0.76
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
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet (1996) 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
[Examples of preimplantation genetic diagnosis versus prenatal diagnosis in carriers of genetic abnormalities: advantages and disadvantages]. Ned Tijdschr Geneeskd (2008) 0.75
[Social support following induced abortion for genetic indications: experiences of the women concerned and their partners]. Ned Tijdschr Geneeskd (1992) 0.75
[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities]. Ned Tijdschr Geneeskd (2006) 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
[Does the (imminent) miscarriage standard of the Dutch College of Family Physicians correspond to its management by gynecologists]. Ned Tijdschr Geneeskd (1995) 0.75
First-trimester non-invasive prenatal diagnosis of triploidy. Prenat Diagn (1999) 0.75
Prenatal diagnosis of a de novo Y/22 translocation. J Med Genet (1978) 0.75
[Prenatal diagnosis of triploidy]. Ned Tijdschr Geneeskd (1990) 0.75
Congenital skin defects and gastrointestinal atresia. Am J Med Genet (1983) 0.75
Multiple pterygium syndrome. A report of two unrelated cases. Clin Neurol Neurosurg (1984) 0.75
DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases. Hum Genet (1989) 0.75
[Prenatal diagnosis of neural tube defects in use of valproic acid]. Ned Tijdschr Geneeskd (1985) 0.75
An unusual case of prenatal diagnosis in twin pregnancy. Clin Genet (1977) 0.75
[Amniotic fluid analysis in the 2d pregnancy trimester]. Ned Tijdschr Geneeskd (1981) 0.75
Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. Am J Med Genet (1980) 0.75
[Prenatal genetic counseling in pregnancy: the importance of (early) timely referral ]. Ned Tijdschr Geneeskd (2001) 0.75
[A patient with a muscular disease! What can we still do?]. Tijdschr Ziekenverpl (1981) 0.75
[Muscular dystrophy]. Tijdschr Ziekenverpl (1977) 0.75
[DNA-analysis in hereditary cancer: the importance of a reliable family history]. Ned Tijdschr Geneeskd (2005) 0.75
Amniotic fluid gel acetylcholinesterase determination in prenatal diagnosis: dark field illumination as a method for improving the detection of precipitation bands. Prenat Diagn (1985) 0.75
Genetic counselling for familial conditions during pregnancy: a review of the literature published during the years 1989-2004. Community Genet (2007) 0.75
Karyotypic differences between cells from placenta and other fetal tissues. Prenat Diagn (1987) 0.75
[Results of prenatal diagnosis in 350 pregnant women in the 10th week of pregnancy]. Ned Tijdschr Geneeskd (1986) 0.75
Qigong: a personal experience. Altern Ther Health Med (2000) 0.75
Psycho-social counselling in predictive genetic testing for cancer: the association between number of supportive sessions and client characteristics as assessed by psycho-social workers. J Genet Couns (2008) 0.75
[No consensus on the definition, diagnosis and treatment of habitual abortion in the Netherlands]. Ned Tijdschr Geneeskd (1999) 0.75
Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree. Clin Genet (1985) 0.75
Bilateral renal agenesis (Potter's syndrome) in two consecutive infants. Eur J Obstet Gynecol Reprod Biol (1978) 0.75
[Genetic counseling: should side issues become main issues?]. Ned Tijdschr Geneeskd (1997) 0.75
Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13). Clin Genet (1986) 0.75
Prenatal diagnosis of congenital malformations in 500 pregnancies. Eur J Obstet Gynecol Reprod Biol (1979) 0.75
The preserving of chorionic villi before establishing long-term cell cultures for cytogenetic analysis. Prenat Diagn (1995) 0.75
FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy. Prenat Diagn (2001) 0.75
[Triploidy in newborn infants; clinical course and cytogenetic aspects]. Ned Tijdschr Geneeskd (1989) 0.75
Pregnancy outcome after transcervical CVS with a flexible biopsy forceps: evaluation of risk factors. Prenat Diagn (1995) 0.75
Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues. Prenat Diagn (1998) 0.75
[Fluorescence in situ hybridization in the study of chromosomal abnormalities]. Ned Tijdschr Geneeskd (1999) 0.75
Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diagn (1997) 0.75
[The heartache of muscular dystrophy]. Ned Tijdschr Geneeskd (2000) 0.75
Limb deficiencies and chorion villus sampling. Am J Med Genet (1993) 0.75
[Importance of recombinant DNA studies for the identification of carriers of Duchenne's muscular dystrophy]. Ned Tijdschr Geneeskd (1985) 0.75
[Various aspects of Duchenne's muscular dystrophy]. Ned Tijdschr Geneeskd (1976) 0.75
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling. Clin Genet (1995) 0.75
Prenatal diagnosis of Meckel syndrome. Hum Genet (1978) 0.75
Therapeutic abortion following midtrimester amniocentesis. Prenat Diagn (1985) 0.75
46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue. Prenat Diagn (1995) 0.75