| NEW TECHNICAL STANDARDS AND GUIDELINES NOW AVAILABLE ON-LINE. |
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| Meeting Announcement |
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| Meetings Calendar |
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| College News |
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| Meetings Calendar |
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| College News |
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| College News |
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| New Products |
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| Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories |
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| Should the MTHFR 1298A>C polymorphism be considered in the clinical evaluation of patients at risk for thrombotic disease? |
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| Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem |
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| American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation |
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| Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent |
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Ashkenazi Jewish descent |
| Association between screening family medical history in general medical care and lower burden of cancer worry among women with a close family history of breast cancer |
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| Sporadic breast cancer among relatives of BRCA mutation carriers |
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| Genetic variation associated with preterm birth: A HuGE review |
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| New Products |
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| New Products |
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| The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients |
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| Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory |
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| Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling |
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| Newborn blood spot screening and genetic services: A survey of Minnesota primary care physicians |
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| Patient acceptability of genotypic testing for hemochromatosis in primary care |
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| NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory |
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| Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health |
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| Letter: Peas, Priorities and Primary Care: Cultural competency starts at home. |
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| Economic analyses of human genetics services: A systematic review |
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| Fragile X syndrome: Diagnostic and carrier testing |
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| Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing |
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| College News |
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| In Defense of Commercial Laboratories |
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| Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders |
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| Clinical genetics issues encountered by family physicians |
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| Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency |
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| How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom |
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| Reply to letter from Marc Williams: |
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| Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program |
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| Erratum |
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| Erratum |
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| College News |
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| Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalitie: This updated Section E6 has been incorporated into Section E: Clinical Cytogenetics of the 2005 |
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| NQO1, MPO, and the risk of lung cancer: A HuGE review |
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| Re: “Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: A naturally occurring experiment” |
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| New Products |
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| SAVE THE DATE! |
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| ERRATUM |
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| Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1 |
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| The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists |
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| Erratum |
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| Gross Deletion Detection Now Available with The Ambry Test for Cystic Fibrosis |
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| EraGen Biosciences and Bayer HealthCare LLC, Diagnostics Division, Announce Agreements for New Cystic Fibrosis (CF) Assay |
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| Medical geneticists in the 21st century |
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| Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: Factors associated with an increased risk of aneuploidy |
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| An international survey of predictive genetic testing in children for adult onset conditions |
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| Development and validation of a CGH microarray for clinical cytogenetic diagnosis |
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| Association between TNF-α −308G>A polymorphism and the development of acute coronary syndromes in Greek subjects: The CARDIO2000-GENE Study |
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| Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans |
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| Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004 |
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| Precurrence risk of neural tube defects in siblings of infants with lipomyelomeningocele |
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| Report of Banbury Summit meeting on training of physicians in medical genetics, October 20–22, 2004 |
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| ERRATUM |
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| EraGen Biosciences Announces Luminex License and Distribution Agreement EraGen expands the potential of MultiCode®-PLx Systems by Expanding a Partnership with Luminex Corporation |
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| Gene expression profiling and breast cancer care: What are the potential benefits and policy implications? |
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| Two new rare variants in the circadian “clock” gene may influence sleep pattern |
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| Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics la |
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| Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests |
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| Concerns in a primary care population about genetic discrimination by insurers |
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| Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification |
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| Genetics in medical practice: The need for ultimate makeover |
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| Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neur |
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| Technical standards and guidelines: Prenatal screening for open neural tube defects: This new section on “Prenatal Screening for Open Neural Tube Defects,” together with the new section on “Prenatal S |
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| New Products |
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| Trends in the use of second trimester maternal serum screening from 1991 to 2003 |
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| Are pregnant women making informed choices about prenatal screening? |
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| Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation |
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| A call for mutations |
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| Genetic education and nongenetic health professionals: Educational providers and curricula in Europe |
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| What’s the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer |
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| Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results |
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| New Products |
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| Fragile X syndrome carrier screening in the prenatal genetic counseling setting |
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| MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration |
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| Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions |
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| Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study |
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| Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing |
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| Folic acid and neural tube defects |
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| Reviewer Acknowledgment |
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| Erratum |
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| Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer |
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| Erratum |
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| Carrier screening panels for Ashkenazi Jews: Is more better? |
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| Response to Drs. Herring and Grundmann |
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| Presence of palmar xanthomas in myotonic dystrophy identifies different patterns of linkage disequilibrium between the apolipoprotein E and myotonic dystrophy protein kinase loci |
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| The IRF6 p.274V polymorphism is not a risk factor for isolated cleft lip |
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| Frequency and phenotypic consequences of the 3199del6 CFTR mutation in French Canadians |
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| Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms |
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| ACMG Genetics Review Course |
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| HFE gene mutations in susceptibility to childhood leukemia: HuGE review |
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| Health implications of α1-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New World |
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| Qualitative research: Thoughts on how to do it; how to judge it; when to use it |
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| Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension |
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| Scientists' and science writers' experiences reporting genetic discoveries: Toward an ethic of trust in science journalism |
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| Meetings Calendar |
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| Ariadne Genomics Announces the Release of Seqware Data Center Self-Updating Sequence Data Management and Personal Blast System |
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| Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population |
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| Neonatal screening, clinical features and genetic testing for galactosemia |
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| Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: A naturally-occurring experiment |
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| Computerized cognitive testing in patients with type I Gaucher disease: Effects of enzyme replacement and substrate reduction |
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| Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements |
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| How frequent is altered gene expression among susceptibility genes to human complex disorders? |
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| Individualization of long-term enzyme replacement therapy for Gaucher disease |
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| Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait |
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| Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory |
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| Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome |
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| CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: A HuGEnet™ systematic review and meta-analysis |
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| Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients |
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| Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study |
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| Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project |
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| Fluorescence in situ hybridization and chromosome studies after transfusion in newborns: Is a waiting period necessary? |
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| A 6-year survey of HFE gene test for hemochromatosis diagnosis |
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| Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele |
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| Fryns syndrome: Report of eight new cases |
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| Obstacles and opportunities in meta-analysis of genetic association studies |
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| New Products |
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| PON1 polymorphism, diabetes mellitus, obesity, and risk of myocardial infarction: Modifying effect of diabetes mellitus and obesity on the association between PON1 polymorphism and myocardial infarcti |
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| Outcomes from intensive training in genetic cancer risk counseling for clinicians |
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| Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications |
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| Telegenetics: The next phase in the provision of genetics services? |
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| Genetic disorders involving molecular-chaperone genes: A perspective |
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| An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women |
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✓ |
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Ashkenazi Jewish |
| Genetic susceptibility testing versus family history–based risk assessment: Impact on perceived risk of Alzheimer disease |
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