Published in Prenat Diagn on July 01, 2002
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet (2010) 1.08
Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med (2012) 0.97
The prenatal diagnosis of genetic diseases. Dtsch Arztebl Int (2010) 0.91
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Eur J Hum Genet (2013) 0.83
The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults. J Genet Couns (2016) 0.75
International network of cancer genome projects. Nature (2010) 20.35
Prepublication data sharing. Nature (2009) 12.24
Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet (2002) 8.89
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
A critical review of the diagnosis and management of Barrett's esophagus: the AGA Chicago Workshop. Gastroenterology (2004) 3.50
Public access to genome-wide data: five views on balancing research with privacy and protection. PLoS Genet (2009) 2.80
The ion channel polycystin-2 is required for left-right axis determination in mice. Curr Biol (2002) 2.36
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35
Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl (2003) 2.29
Management of hypertensive disorders during pregnancy: summary of NICE guidance. BMJ (2010) 2.27
General practitioners' and family physicians' negative beliefs and attitudes towards discussing smoking cessation with patients: a systematic review. Addiction (2005) 2.26
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med (2008) 2.12
Heterogeneity and changes in preferences for dying at home: a systematic review. BMC Palliat Care (2013) 2.11
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet (2007) 2.07
Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site. J Chromatogr B Analyt Technol Biomed Life Sci (2008) 2.05
Breast carcinoma during pregnancy. International recommendations from an expert meeting. Cancer (2006) 2.04
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 2.04
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet (2006) 1.85
Infant feeding attitudes of expectant parents: breastfeeding and formula feeding. J Adv Nurs (2004) 1.81
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet (2007) 1.73
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A (2004) 1.72
Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based evaluation. Pediatrics (2005) 1.72
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol (2012) 1.70
First report of prevalence of non-syndromic hereditary prosopagnosia (HPA). Am J Med Genet A (2006) 1.69
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Bereaved relatives' views about participating in cancer research. Palliat Med (2011) 1.58
Data sharing in the post-genomic world: the experience of the International Cancer Genome Consortium (ICGC) Data Access Compliance Office (DACO). PLoS Comput Biol (2012) 1.55
PLUTO trial protocol: percutaneous shunting for lower urinary tract obstruction randomised controlled trial. BJOG (2007) 1.55
Effect of different partogram action lines on birth outcomes: a randomized controlled trial. Obstet Gynecol (2006) 1.53
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis. Prenat Diagn (2011) 1.49
Diagnostic accuracy of dermatoscopy for melanocytic and nonmelanocytic pigmented lesions. J Am Acad Dermatol (2011) 1.47
Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet (2003) 1.45
Toward the effective surveillance of hypospadias. Environ Health Perspect (2004) 1.45
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J (2003) 1.42
International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? BMJ (2005) 1.39
The meaning of evidence: can practitioners be researchers? Forsch Komplementmed (2009) 1.39
Preventing neural tube defects in Europe: population based study. BMJ (2005) 1.38
A case of claudication in a young man. Br J Hosp Med (Lond) (2005) 1.38
Understanding why smokers do not want to use nicotine dependence medications to stop smoking: qualitative and quantitative studies. Nicotine Tob Res (2008) 1.34
Nurse migration to Canada: pathways and pitfalls of workforce integration. J Transcult Nurs (2009) 1.30
Decreased TNF-alpha synthesis by macrophages restricts cutaneous immunosurveillance by memory CD4+ T cells during aging. J Exp Med (2009) 1.29
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet (2010) 1.27
Parental attitudes toward breastfeeding: their association with feeding outcome at hospital discharge. Birth (2004) 1.27
Remote working: survey of attitudes to eHealth of doctors and nurses in rural general practices in the United Kingdom. Fam Pract (2005) 1.26
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet (2007) 1.26
Dermatoscopy in routine practice - 'chaos and clues'. Aust Fam Physician (2012) 1.23
Can we evaluate population screening strategies in UK general practice? A pilot randomised controlled trial comparing postal and opportunistic screening for genital chlamydial infection. J Epidemiol Community Health (2005) 1.22
Preventing neural tube defects in Europe: a missed opportunity. Reprod Toxicol (2005) 1.22
The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. J Community Genet (2012) 1.19
Genetics in clinical practice: general practitioners' educational priorities in European countries. Genet Med (2008) 1.18
Dermoscopy of squamous cell carcinoma and keratoacanthoma. Arch Dermatol (2012) 1.14
Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale. Genet Med (2008) 1.14
Mitotic centromere-associated kinesin (MCAK): a potential cancer drug target. Oncotarget (2011) 1.13
Scope of definitions of genetic testing: evidence from a EuroGentest survey. J Community Genet (2010) 1.11
Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? Diagn Pathol (2011) 1.10
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet (2006) 1.07
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet (2009) 1.07
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A (2010) 1.06
Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands. J Community Genet (2011) 1.04
Showing smokers with vascular disease images of their arteries to motivate cessation: a pilot study. Br J Health Psychol (2007) 1.02
General practitioners' beliefs about effectiveness and intentions to prescribe smoking cessation medications: qualitative and quantitative studies. BMC Public Health (2006) 1.02
Maternal docosahexaenoic acid supplementation and fetal accretion. Br J Nutr (2003) 1.01
Women's perceptions of being pregnant and having pregestational diabetes. Midwifery (2009) 1.00
Smoking and pregnancy--a review on the first major environmental risk factor of the unborn. Int J Environ Res Public Health (2013) 1.00
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. Hum Mol Genet (2007) 0.99
Noninvasive approach for the management of hemolytic disease of the fetus. Expert Rev Hematol (2009) 0.99
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone (2005) 0.99
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics (2012) 0.99
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology (2012) 0.99
A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000. BJOG (2004) 0.98
Chlorination disinfection by-products and risk of congenital anomalies in England and Wales. Environ Health Perspect (2008) 0.98
Polo-like kinase 1 inhibitors, mitotic stress and the tumor suppressor p53. Cell Cycle (2013) 0.97
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet (2010) 0.97
Fetal anaemia: diagnosis and management. Best Pract Res Clin Obstet Gynaecol (2007) 0.97
Autologous placental blood transfusion for the therapy of anaemic neonates. Biol Neonate (2002) 0.97
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet (2009) 0.97
Intrapartum signal quality with external fetal heart rate monitoring: a two way trial of external Doppler CTG ultrasound and the abdominal fetal electrocardiogram. Arch Gynecol Obstet (2012) 0.96
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat (2007) 0.96
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
Dermatoscopy of a minute melanoma. Australas J Dermatol (2011) 0.96
Inducible Cre/loxP recombination in the mouse proximal tubule. Nephron Exp Nephrol (2007) 0.96
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet (2011) 0.95
Variations in the quality and costs of end-of-life care, preferences and palliative outcomes for cancer patients by place of death: the QUALYCARE study. BMC Cancer (2010) 0.95
Delayed interval delivery in twin and triplet pregnancies: 6 years of experience in one perinatal center. J Perinat Med (2012) 0.95
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet (2011) 0.94
Function of survivin in trophoblastic cells of the placenta. PLoS One (2013) 0.93
The cessation in pregnancy incentives trial (CPIT): study protocol for a randomized controlled trial. Trials (2012) 0.93
Efficacy, recovery, and safety of RBCs from autologous placental blood: clinical experience in 52 newborns. Transfusion (2003) 0.93
An anthropoid-specific segmental duplication on human chromosome 1q22. Genomics (2006) 0.93
Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar. BMC Evol Biol (2014) 0.93
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat (2005) 0.93