| College News |
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| Cystic Fibrosis Mutation Analysis: How Many Is Enough? |
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| College News |
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| Erratum |
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| Meetings Calendar |
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| APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients |
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| Family communication about positive BRCA1 and BRCA2 genetic test results |
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| Lipoprotein lipase locus and progression of atherosclerosis in coronary-artery bypass grafts |
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| Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status |
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| Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients |
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| Genetic polymorphisms and heart failure |
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| Safeguards in the use of DNA databanks in genomic research |
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| Nevoid basal cell carcinoma (Gorlin) syndrome |
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| Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb |
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| Does providing hereditary breast cancer risk assessment support to practicing physicians decrease the likelihood of them discussing such risk with their patients? |
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| Genetic tests and their evaluation: Can we answer the key questions? |
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| Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) process |
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| Outline of a medical genetics curriculum for internal medicine residency training programs |
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| Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome |
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| Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy |
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| Genetic testing for deafness is here, but how do we do it? |
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| Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel |
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| CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations |
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| Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation |
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| Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population |
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Ashkenazi Jewish population |
| Responsibility of genetic testing |
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| Meetings Calendar |
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| New Products |
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| Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses |
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| Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population |
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| Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study |
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| Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis |
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| Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening |
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| Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology |
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| Announcements |
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| Announcements |
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| Announcements |
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| Genetic determinants of osteoporosis susceptibility in a female Ashkenazi Jewish population |
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Ashkenazi Jewish population |
| Direct-to-consumer genetic testing: Access and marketing |
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| No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives |
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| Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2 |
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| Technical Standards and Guidelines for Huntington Disease Testing |
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| Biopterin responsive phenylalanine hydroxylase deficiency |
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| Meetings Calendar |
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| A set of commercially available fluorescent in-situ hybridization probes efficiently detects cytogenetic abnormalities in patients with chronic lymphocytic leukemia |
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| Single umbilical artery: What does it mean for the fetus? A case-control analysis of pathologically ascertained cases |
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| An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions |
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| Mutations in genes required for T-cell development:IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review |
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| ACMG Statement on Direct-to-Consumer Genetic Testing |
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| Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype? |
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| Genetic testing for Alpha1-antitrypsin deficiency |
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| Estimating risk curves for first-degree relatives of patients with Alzheimer’s disease: The REVEAL study |
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| Multimedia messages in genetics: Design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program |
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| A look at a Hispanic and African American population in an urban prenatal diagnostic center: Referral reasons, amniocentesis acceptance, and abnormalities detected |
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Hispanic; African American |
| Genetic information leaflets: Influencing attitudes towards genetic testing |
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| Omphalocele and gastroschisis: An 18-year review study |
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| Genetic testing: Hope or hype? |
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| Who seeks genetic susceptibility testing for Alzheimer’s disease? Findings from a multisite, randomized clinical trial |
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| Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians |
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| Alzheimer’s disease and testing |
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| Meeting Calendar |
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| Abstracts |
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| New products |
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| Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory |
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| Cystic fibrosis screening: Lessons learned from the first 320,000 patients |
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| Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations |
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| Single-nucleotide polymorphisms in SCN5A gene in Chinese Han population and their correlation with cardiac arrhythmias |
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| College News |
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| Meetings calendar |
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| New products |
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| FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients |
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| Family history of heart disease and cardiovascular disease risk-reducing behaviors |
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| Prenatal screening for cystic fibrosis: An early report card |
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| Association of CCR5 Δ32 deletion with early death in multiple sclerosis |
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| In a Vietnamese population, MSX1 variants contribute to cleft lip and palate |
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Vietnamese population |
| Newproducts |
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| Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients |
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| College News |
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| Meetings Calendar |
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| Reviewer Acknowledgment |
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| Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T |
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| Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease |
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| Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria |
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| Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors |
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| Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities |
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