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| Utilization trends of genetic clinics excluding prenatal services in Washington State, 1995–2004 |
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| Pharmacogenomic testing to prevent aminoglycoside-induced hearing loss in cystic fibrosis patients: potential impact on clinical, patient, and economic outcomes |
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| Defining purpose: a key step in genetic test evaluation |
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| Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions |
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| Five common gene variants identify elevated genetic risk for coronary heart disease |
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| Health-related quality of life in a racially diverse population screened for hemochromatosis: results from the Hemochromatosis and Iron Overload Screening (HEIRS) study |
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| The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? |
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| Development of genomic reference materials for Huntington disease genetic testing |
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| New at GeneTests |
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| Genetics of Parkinson disease |
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| Assessing hypothetical scenario methodology in genetic susceptibility testing analog studies: a quantitative review |
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| Myriad and the mass media: the covering of a gene patent controversy |
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| Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors |
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| Erratum |
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| The Cystic Fibrosis mutation “arms race”: when less is more |
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| Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods |
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| Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene |
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Ashkenazim |
| Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays |
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| Primary care physicians' concerns about offering a genetic test to tailor smoking cessation treatment |
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| Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and linguistically diverse group |
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| Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer |
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| Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors |
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| Diagnosis, counseling, and gender assignment |
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| Diagnosis, counseling, and gender assignment |
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| Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density |
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| Committee Report: Advancing the current recommended panel of conditions for newborn screening |
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| Evidence based medicine meets genomic medicine |
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| Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis |
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| Detection of DNA copy number alterations in cancer by array comparative genomic hybridization |
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| Structural variation in the human genome: the impact of copy number variants on clinical diagnosis |
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| Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs |
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| High-resolution genomic microarrays for X-linked mental retardation |
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| Use of array-based technology in the practice of medical genetics |
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| Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes |
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| Challenges in array comparative genomic hybridization for the analysis of cancer samples |
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| Comprehensive validation of array comparative genomic hybridization platforms: how much is enough? |
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| The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome |
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| Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research |
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| Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis |
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| Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies |
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| The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluoresence in situ hybridization to array comparative genomic hybridization |
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| Microarray analysis for constitutional cytogenetic abnormalities |
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| Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity |
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| Awareness and use of direct-to-consumer nutrigenomic tests, United States, 2006 |
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| Randomized comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counseling |
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| The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease |
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| Assuring clinical genetic services for newborns identified through U.S. newborn screening programs |
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| Public Health Genomics knowledge and attitudes: A survey of public health educators in the United States |
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| The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases |
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| An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1 |
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| Clinical aspects of hereditary hearing loss |
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| Erratum |
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| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region |
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| HFE genotypes in patients with chronic pancreatitis and pancreatic adenocarcinoma |
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| The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1 |
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| A model for the development of genetics education programs for health professionals |
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| Whole genome microarray analysis of gene expression in subjects with fragile X syndrome |
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| Estimating first-trimester combined screening performance for Down syndrome in dried blood spots versus fresh sera |
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| Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic review |
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| Rapid ACCE: Experience with a rapid and structured approach for evaluating gene-based testing |
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| A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort |
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| A Gender Assessment Team: experience with 250 patients over a period of 25 years |
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| The roles of family members, health care workers, and others in decision-making processes about genetic testing among individuals at risk for Huntington disease |
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| The NAD(P)H:quinone oxidoreductase I C609T polymorphism modifies the risk of Barrett esophagus and esophageal adenocarcinoma |
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| Indications for genetic referral: a guide for healthcare providers |
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| Premarital screening for thalassemia and sickle cell disease in Saudi Arabia |
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| Update on psychiatric genetics |
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| Non-replication of association studies: “pseudo-failures” to replicate? |
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| Genetic and environmental risk assessment for colorectal cancer risk in primary care practice settings: a pilot study |
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| Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease |
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African American |
| Renal anomalies in families of individuals with congenital solitary kidney |
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| Genetic testing in autism: how much is enough? |
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| The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing |
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| The prevalence of the 235delC GJB2 mutation in a Chinese deaf population |
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| Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions |
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| Psychological adjustment among partners of women at high risk of developing breast/ovarian cancer |
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| Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment |
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| Maimon M. Cohen, PhD |
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| Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis |
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| Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome |
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| Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20 |
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| Characteristics and perspectives of families waiting to adopt a child with Down syndrome |
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| Abdominal visceral findings in patients with Marfan syndrome |
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| Cognitive dysfunction in adults with Van der Woude syndrome |
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| Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification |
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| Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations |
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| Erratum |
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| Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH |
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| Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers |
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| Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL |
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| Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens |
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| Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community |
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| Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort |
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| National population-based biobanks for genetic research |
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| To the memory of Robert J. Gorlin |
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| Association of MBL2 variants with early preterm delivery |
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| No association of polymorphisms in the gene encoding 5-lipoxygenase-activating protein and myocardial infarction in a large central European population |
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central European population |
| We used to call them hermaphrodites |
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| Genetics and genetic counseling: Practices and opinions of primary care physicians in Turkey |
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| Myeloperoxidase G-463A polymorphism and lung cancer: A HuGE Genetic Susceptibility to Environmental Carcinogens pooled analysis |
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| Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States |
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| MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation |
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| Celebrating the birthday of our intellectual common ancestor |
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| Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status |
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| Genome-wide scans for microalbuminuria in Mexican Americans: The San Antonio Family Heart Study |
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| Reply to letter from Sevim Balci: |
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| Erratum |
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| Situs inversus totalis, renal and pancreatic dysplasia, and cysts as an autosomal recessive new entity? |
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| Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency |
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| Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields |
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| Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases |
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| Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life |
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| Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory |
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| Association study between the NMDA receptor 2B subunit gene (GRIN2B) and schizophrenia: A HuGE review and meta-analysis |
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| X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping |
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| Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network |
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| APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD) |
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| A future for medical genetics: lessons from Catch 22 |
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