Published in J Community Genet on December 04, 2010
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The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders. Dtsch Arztebl Int (2008) 1.49
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
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Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet (2002) 1.26
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Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci. Int J Legal Med (2010) 1.24
Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet (2011) 1.23
The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol (2005) 1.23
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol (2008) 1.20
The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. J Community Genet (2012) 1.19
Women's perceptions and experience of adjuvant tamoxifen therapy account for their adherence: breast cancer patients' point of view. Psychooncology (2010) 1.18
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet (2012) 1.18
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Genetic admixture history of Eastern Indonesia as revealed by Y-chromosome and mitochondrial DNA analysis. Mol Biol Evol (2009) 1.17
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Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat (2005) 1.14
A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques, Macaca mulatta. Naturwissenschaften (2003) 1.12
Scope of definitions of genetic testing: evidence from a EuroGentest survey. J Community Genet (2010) 1.11
Definitions of genetic testing in European legal documents. J Community Genet (2012) 1.10
Patients' characteristics and rate of Internet use to obtain cancer information. J Public Health (Oxf) (2006) 1.08
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet (2011) 1.07
Discharge and farewell. Community Genet (2008) 1.07
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The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A (2008) 1.06
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
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Putative human male germ cells from bone marrow stem cells. Soc Reprod Fertil Suppl (2007) 1.04
Patient compliance based on genetic medicine: a literature review. J Community Genet (2013) 1.04
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Hum Mutat (2013) 1.04
Report of an international survey of molecular genetic testing laboratories. Community Genet (2007) 1.04
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2010) 1.01
Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes. Fam Cancer (2008) 1.00
Cross-cultural validation of the Decisional Conflict Scale in a sample of French patients. Qual Life Res (2006) 1.00
What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet (2008) 0.99
Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta). Am J Primatol (2002) 0.99
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat (2012) 0.98
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Allosteric regulation of substrate channeling in tryptophan synthase: modulation of the L-serine reaction in stage I of the beta-reaction by alpha-site ligands. Biochemistry (2007) 0.98
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat (2002) 0.98
Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing. Int J Technol Assess Health Care (2003) 0.98
Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. Eur J Cancer (2006) 0.97
The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet (2013) 0.97
Synthesis and characterization of allosteric probes of substrate channeling in the tryptophan synthase bienzyme complex. Biochemistry (2007) 0.96
Consent for biobanking: assessing the understanding and views of cancer patients. J Natl Cancer Inst (2010) 0.95
Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands. Fam Pract (2004) 0.92
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet (2010) 0.92
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations. Eur J Hum Genet (2007) 0.92
Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene. Biol Reprod (2005) 0.91
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet (2005) 0.91
On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report. Genet Test (2007) 0.91
Points to consider in assessing and appraising predictive genetic tests. J Community Genet (2010) 0.91
A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat (2009) 0.90
Testing participation in BRCA1/2-positive families: initiator role of index cases. Genet Test (2003) 0.90
Genetic education for non-geneticist health professionals. Community Genet (2006) 0.89
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 0.89
Genetic education and nongenetic health professionals: educational providers and curricula in Europe. Genet Med (2005) 0.88