| Will there be funds to support essential clinical genetic services? |
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| Prevalence of aneuploidies in South Carolina in the 1990s |
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| Survey of physician knowledge about hemochromatosis |
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| The practice of clinical genetics: A survey of practitioners |
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| Eight novel mutations in the HEXA gene |
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| Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss |
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| College News |
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| New products |
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| Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force |
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| Prevalence of aortic root dilation in the Ehlers-Danlos syndrome |
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| Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2) |
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| Spina bifida and folate-related genes: A study of gene-gene interactions |
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| Patient preferences of decision-making in the context of genetic testing for breast cancer risk |
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| Meetings calender |
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| Will the learners be learned? |
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| Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA |
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| Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians |
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non-Hispanic Caucasians |
| Helping high-risk families: Medical and public health approaches |
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| Glutathione S-transferase polymorphisms and risk of ovarian cancer: A HuGE review |
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| Can family history be used as a tool for public health and preventive medicine? |
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| New products |
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| Introduction of Arthur L. Beaudet, Harland Sanders Award Recipient |
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| New Products |
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| Asynchronous replication of biallelically expressed loci: A new phenomenon in Turner syndrome |
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| Genomics, proteomics, and the new paradigm in biomedical research |
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| Genetic advances will influence the practice of medicine: Examples from cancer research and care of cancer patients |
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| Structural brain abnormalities in adult males with clefts of the lip and/or palate |
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| Molecular characterization of 18p deletions: Evidence for a breakpoint cluster |
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| Needs assessment study of genetics education for general practitioners in Australia |
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| College News |
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| Meetings Calendar |
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| Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing |
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| The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis |
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| Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS |
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| No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches |
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| Effects of risk counseling on interest in breast cancer genetic testing for lower risk women |
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| End-of-life issues in genetic disorders: Summary of workshop held at the National Institutes of Health on September 26, 2001 |
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| College News |
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| Cystic fibrosis carrier screening: Issues in implementation |
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| Lysosomal storage disorders: Diagnostic dilemmas and prospects for therapy |
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| Cessation of enzyme replacement therapy in Gaucher disease |
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| Prenatal diagnosis from fetal urine in bladder outlet obstruction: Success rates for traditional cytogenetic evaluation and interphase fluorescence in situ hybridization |
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| Translational genomics in medical genetics |
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| Erratum |
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| Meetings calendar |
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| The crucial role of the public health sciences in the postgenomic era |
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| Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease |
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| Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: A method based on tumor analysis |
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| British Society of Human Genetics |
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| Meetings calendar |
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| A comprehensive review of genetic association studies |
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| Adding another “hatched pink” chromosome |
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| Use of a multiaxial diagnostic system in clinical genetics |
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| Response to Lacassie |
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| Reviewer Acknowledgment |
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| GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review |
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| High “population attributable fraction” for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia |
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| Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples |
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| Physicians' propensity to offer genetic testing for Alzheimer's disease: Results from a survey |
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| Medical genetic test reporting for cystic fibrosis (ΔF508) and factor V Leiden in North American laboratories |
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| Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk? |
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| End-of-life issues in genetic disorders: Literature and research directions |
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| Standards and Guidelines for CFTR Mutation Testing |
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| Australian empirical study into genetic discrimination |
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| Is medical genetics neglecting epigenetics? |
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| Meetings calendar |
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| Research priorities for public health sciences in the postgenomic era |
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| Incorporating the Contextual Assessment Approach to regimens used in genetic family studies |
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| Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene |
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| Introduction |
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| Genetics in medical practice |
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| Reflections on the ethics of genetic enhancement |
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| Bioinformatics and genomic medicine |
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| Key roles of government in genomics and proteomics: A public health perspective |
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| Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion |
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| Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 |
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| Mapping the human genome: An assessment of media coverage and public reaction |
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| NAD(P)H:quinone oxidoreductase (NQO1) polymorphism, exposure to benzene, and predisposition to disease: A HuGE review |
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| Barriers to successful dietary control among pregnant women with phenylketonuria |
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| Influences of the PPARα-L162V polymorphism on plasma HDL2-cholesterol response of abdominally obese men treated with gemfibrozil |
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| A population-based study of Ashkenazi Jewish women’s attitudes toward genetic discrimination and BRCA1/2 testing |
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✓ |
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Ashkenazi Jewish |
| Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene |
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| Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome) |
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| Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: A cost comparison |
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| Integration of genetics into clinical teaching in medical school education |
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| Coupling genomics and human genetics to delineate basic mechanisms of development |
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| Allele frequency determination of publicly available cSNPs in the Korean population |
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| Progress and limitations in cancer gene therapy |
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| AAV-mediated gene transfer for hemophilia |
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| The human genome: Cause to remember our humanity |
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| Integrating genomics into US public health |
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| Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria |
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| Meetings calendar |
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