Published in Lancet on March 30, 1991
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The rise and fall of chorionic villus sampling. BMJ (1991) 1.02
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Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet (1989) 2.28
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
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Using decision analysis to compare policies for antenatal screening for Down's syndrome. BMJ (1995) 1.95
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Prenatal determination of fetal RhD status by analysis of peripheral blood of rhesus negative mothers. Lancet (1993) 1.71
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Lipoprotein-associated phospholipase A(2), platelet-activating factor acetylhydrolase: a potential new risk factor for coronary artery disease. Atherosclerosis (2000) 1.58
Family history taking and genetic counselling in primary care. Fam Pract (1999) 1.58
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MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet (1989) 1.49
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Plasma protease inhibitors in mouse and man: divergence within the reactive centre regions. Nature (1984) 1.48
Pregnancy terminations after oral contraception scare. Lancet (1996) 1.47
Deaths from haemolytic disease of the newborn. BMJ (1992) 1.47
Human heat shock protein gene polymorphisms and sudden infant death syndrome. Arch Dis Child (1996) 1.47
The impact of a trial of instrumental delivery in theatre on neonatal outcome. BJOG (2007) 1.46
Conducting ecologically valid prevention research: recruiting and retaining a "whole village" in multimethod, multiagent studies. Am J Community Psychol (1997) 1.43
Structural mechanisms of drug resistance for mutations at codons 181 and 188 in HIV-1 reverse transcriptase and the improved resilience of second generation non-nucleoside inhibitors. J Mol Biol (2001) 1.42
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Dilatation and curettage in young women. Health Bull (Edinb) (1979) 1.39
Critical assessment of dilatation and curettage in 1029 women. Lancet (1978) 1.39
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet (2009) 1.32
The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet (1985) 1.31
Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain (1986) 1.29
Antenatal fetal blood sampling for the management of alloimmunized pregnancies: effect upon maternal anti-D potency levels. Br J Obstet Gynaecol (1988) 1.29
Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. J Med Genet (1986) 1.26
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Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc Natl Acad Sci U S A (1985) 1.22
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Two cases of endocardial fibroelastosis--possible x-linked determination. Br Heart J (1973) 1.19
Loss of myometrial oxytocin receptors during oxytocin-induced and oxytocin-augmented labour. J Reprod Fertil (2000) 1.18
Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants. Mol Cell Biol (1986) 1.17
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet (2003) 1.15
Central neurofibromatosis. Q J Med (1985) 1.13
Taking immunogenicity assessment of therapeutic proteins to the next level. Biologicals (2011) 1.12
Coagulation changes during second-trimester abortion induced by intra-amniotic prostaglandin E2 and hypertonic solutions. Lancet (1975) 1.11
UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. J Med Genet (1992) 1.11
The mortality and morbidity associated with umbilical cord prolapse. Br J Obstet Gynaecol (1995) 1.11
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A (1987) 1.11
Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis. Teratology (2000) 1.09
Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J (Clin Res Ed) (1986) 1.08
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet (2007) 1.08
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet (1988) 1.07
Insulin-like growth factors (IGF) 1 and 2 in human foetal plasma and relationship to gestational age and foetal size during midpregnancy. Acta Endocrinol (Copenh) (1985) 1.07
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet (1992) 1.07
von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize. J Urol (2001) 1.06
A study of the specific IgM antibody response in Mycoplasma pneumoniae infection in man. J Hyg (Lond) (1983) 1.05
An exclusion map for Von Recklinghausen neurofibromatosis. J Med Genet (1987) 1.05
Paracentric inversions in man. J Med Genet (1984) 1.04
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. Am J Med Genet (1988) 1.03
Oxytocin-stimulated phosphoinositide hydrolysis in human myometrial cells: involvement of pertussis toxin-sensitive and -insensitive G-proteins. J Endocrinol (1993) 1.03
Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. Genomics (1987) 1.03
Close flanking markers for neurofibromatosis type I (NF1). Am J Hum Genet (1989) 1.03
Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent. Br J Psychiatry (1990) 1.03
Hydrogen peroxide and sequence-specific DNA damage in human cells. FEBS Lett (1996) 1.03
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet (2000) 1.03
Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat Diagn (1987) 1.01
Pulmonary agenesis as part of the VACTERL sequence. Arch Dis Child (1988) 1.01
Temporary reappearance of sperm 12 months after vasectomy clearance. Br J Urol (1995) 1.01
Secondary postpartum haemorrhage: incidence, morbidity and current management. BJOG (2001) 1.00
Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn (1998) 1.00