Published in Hum Hered on January 01, 1974
Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation. J Med Genet (1990) 1.08
Familial balanced translocation 4p+/17q- as a suggested cause of primary trisomy-21 Down's syndrome. Arch Dis Child (1977) 0.85
Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. J Med Genet (1976) 0.75
A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat. J Med Genet (1979) 0.75
Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet (1986) 4.71
Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet (1997) 2.72
Care of the dying cancer patient in the emergency department: findings from a National survey of Australian emergency department clinicians. Intern Med J (2014) 2.64
Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet (1992) 2.15
Prophylactic diazepam or phenobarbitone in febrile convulsions: a prospective, controlled study. Arch Dis Child (1978) 1.99
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered (1973) 1.64
Criminality in XYY and XXY men. Science (1976) 1.57
European Guidelines for Quality Assurance in Cervical Cancer Screening. Europe against cancer programme. Eur J Cancer (1993) 1.52
Should the indications for prenatal chromosome analysis be changed? Br Med J (1977) 1.45
Larvae in the mouth. Br Dent J (2007) 1.45
Biopsy of the breast. Br J Hosp Med (1981) 1.42
Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma. Genes Chromosomes Cancer (1999) 1.40
Sampling success and risk by transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis: a randomized study. Ultrasound Obstet Gynecol (1991) 1.40
Between a rock and a hard place: exploring the conflict between respecting the privacy of patients and informing their carers. Intern Med J (2009) 1.39
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet (2000) 1.30
High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet (2001) 1.29
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry (1998) 1.29
Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin Genet (1979) 1.24
Breast self-examination: clinical results from a population-based prospective study. Br J Cancer (1984) 1.17
Metabolic control in children with insulin dependent diabetes mellitus assessed by hemoglobin A1c. Acta Paediatr Scand (1982) 1.15
Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet (1995) 1.15
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. Hum Genet (1986) 1.11
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet (1983) 1.11
Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer (1999) 1.11
Further delineation of the 22q13 deletion syndrome. Clin Dysmorphol (2005) 1.08
Synthesis, spectral, optical and thermal studies of 1-methyl-2,6-dimethyl-4-hydroxypyridinium chloride monohydrate and bromide monohydrate. Spectrochim Acta A Mol Biomol Spectrosc (2007) 1.08
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. Am J Hum Genet (1992) 1.06
Clinical measures to assess the practice and efficiency of breast self-examination. Cancer (1986) 1.05
Comparative genomic hybridization reveals non-random chromosomal aberrations in early preinvasive cervical lesions. Cancer Genet Cytogenet (2001) 1.04
Screening for Down's syndrome using an iso-risk curve based on maternal age and serum alpha-fetoprotein level. Br J Obstet Gynaecol (1987) 1.03
Health Belief Model variables as predictors of screening mammography utilization. J Behav Med (1994) 1.03
Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet (1986) 1.02
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report. Ophthalmologica (1977) 1.01
Enlarged chromosome No. 1 in a patient with primary amenorrhoea. Cytogenetics (1965) 1.00
Assessment of changes in coagulation in parturients with preeclampsia using thromboelastography. Anesthesiology (1999) 0.99
The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY. Am J Hum Genet (1976) 0.99
A clinical and cytogenetical study of XX male. Hereditas (1969) 0.98
Simultaneous confocal recording of multiple fluorescent labels with improved channel separation. J Microsc (1994) 0.98
Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older. Br J Obstet Gynaecol (1995) 0.97
Dignity in dying: a preliminary study of patients in the last three days of life. J Palliat Care (1996) 0.97
Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I. J Med Genet (1974) 0.95
Automatic classification of chromosomes as part of a routine system for clinical analysis. Cytometry (1986) 0.95
Relationship between infant birth weight </=2000 g and maternal zinc levels at Muhimbili National Hospital, Dar Es Salaam, Tanzania. J Trop Pediatr (2005) 0.95
Nephrobronchial fistula - a case report. Int Urol Nephrol (2007) 0.95
LSD in mice: abnormalities in meiotic chromosomes. Science (1968) 0.94
Mental retardation in a patient with Maroteaux-Lamy. Clin Genet (1987) 0.94
Studies on meiotic chromosomes in infertile men and controls with normak karyotypes. J Reprod Fertil (1973) 0.94
Semiautomated chromosome analysis. A clinical test. Clin Genet (1985) 0.93
Stimulation of amniotic fluid cells by fibroblast growth factor. Clin Genet (1978) 0.93
Primary amenorrhea. A study of 101 cases. Fertil Steril (1966) 0.92
Is Menkes syndrome a copper storage disorder? Clin Genet (1978) 0.91
Is screening for ovarian cancer worthwhile? J Med Screen (1994) 0.91
Assessing platelet and fibrinogen contribution to clot strength using modified thromboelastography in pregnant women. Anesth Analg (1999) 0.90
Y-22 translocation in a YY male. Cytogenet Cell Genet (1973) 0.90
Administration of nitrous oxide in normal subjects. Evaluation of systems of gas delivery for their clinical use and hemodynamic effects. Chest (1977) 0.90
Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non-radioactive in situ hybridization. Prenat Diagn (1992) 0.90
InJection adaptable fine ionization source ('JaFIS') for continuous flow nano-electrospray. Rapid Commun Mass Spectrom (1998) 0.89
A culture vessel for amniotic fluid cells allowing faster preparation of chromosome slides. Prenat Diagn (1985) 0.89
Colour vision deficiency in on of two presumably monozygotic twins with secondary amenorrhoea. Ann Hum Genet (1969) 0.89
Indication of primary immune deficiency in Fanconi's anemia. Acta Paediatr Scand (1977) 0.88
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet (2000) 0.88
A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J Med Genet (1981) 0.88
Optimization of DOP-PCR amplification of DNA for high-resolution comparative genomic hybridization analysis. Cytometry (2001) 0.87
A randomized, controlled trial comparing lidocaine periprostatic nerve block, diclofenac suppository and both for transrectal ultrasound guided biopsy of prostate. J Urol (2005) 0.86
Thromboelastographic changes in healthy parturients and postpartum women. Anesth Analg (1997) 0.85
Biomonitoring of genotoxic exposure among stainless steel welders. Mutat Res (1992) 0.85
Patient reporting and doctor recognition of dyspnoea in a comprehensive cancer centre. Intern Med J (2006) 0.84
Serum lipids and lipoproteins in 157 insulin dependent diabetic children and adolescents in relation to metabolic regulation, obesity and genetic hyperlipoproteinemia. Acta Paediatr Scand (1983) 0.84
Microspectrophotometry of trypsin-Leishman-stained human chromosomes. Nature (1973) 0.84
Public interest warning: should we ban wooden/ornamental toilet seats for male infants? BJU Int (2008) 0.84
Aneuploidy as a marker for carcinoma-in-situ of the testis. Acta Pathol Microbiol Scand A (1981) 0.84
Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISH. Am J Hum Genet (1996) 0.84
A test of a climate room for preparation of chromosome slides. Clin Genet (1985) 0.84
Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann Genet (2004) 0.83
New rapid test for prenatal detection of trisomy 21 (Down's syndrome): preliminary report. BMJ (1992) 0.83
Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial. Prenat Diagn (1997) 0.82
A case of partial deletion of the long arm of chromosome 7 (7q34 leads to 7qter). Dan Med Bull (1983) 0.82
Outcome of pregnancy after amniocentesis for chromosome analysis. Br Med J (1978) 0.82
Detection of chromosomal aberrations in seminomatous germ cell tumours using comparative genomic hybridization. Genes Chromosomes Cancer (1997) 0.82
45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies. Acta Obstet Gynecol Scand (1976) 0.82
Cytogenetic investigations in male infertility. Acta Obstet Gynecol Scand (1970) 0.82
The effect of anesthetic techniques on blood coagulability in parturients as measured by thromboelastography. Anesth Analg (1997) 0.82
Teratogenic effect of carbamazepine. Arch Dis Child (1991) 0.81
Intrathecal sufentanil compared to epidural bupivacaine for labor analgesia. Anesthesiology (1994) 0.81
Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH. Clin Genet (2001) 0.81
Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry (1997) 0.81
The effect of dydrogesterone on premenstrual symptoms. A double-blind, randomized, placebo-controlled study in general practice. Scand J Prim Health Care (1988) 0.81