| Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial |
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| Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review |
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| Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2) |
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| Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect |
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| Neuropsychiatric disorders in the 22q11 deletion syndrome |
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| Meetings Calendar |
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| A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis |
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| Hemochromatosis-associated morbidity in the United States: An analysis of the National Hospital Discharge Survey, 1979–1997 |
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| Genetic testing for breast cancer: Where are health care providers in the decision process? |
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| Laboratory standards and guidelines for population-based cystic fibrosis carrier screening |
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| Meetings Calendar |
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| Genetic discrimination in the workplace |
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| Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel |
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| Genetic heterogeneity in autosomal dominant essential tremor |
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| Establishing priorities in neurofibromatosis research: A workshop summary |
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| Issues in Human GenEthics |
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| Portugal: The practice of medical genetics in Portugal |
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| Meetings Calendar |
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| Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood |
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| College News |
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| Why has the relationship between psychiatry and genetics been so contentious? |
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| Public health impact of genetic tests at the end of the 20th century |
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| Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center |
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| The 22q11.2 deletion: From diversity to a single gene theory |
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| Prenatal diagnosis of the 22q11.2 deletion syndrome |
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| Endocrine aspects of the 22q11.2 deletion syndrome |
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| Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion |
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| Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults |
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| Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome |
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| Oncologists' opinions on genetic testing for breast and ovarian cancer |
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| Recommendations of core competencies in genetics essential for all health professionals |
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| Human genetics around the world |
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| Life adaptation in 35 adults with sex chromosome abnormalities |
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| Genetics in Medicine inaugurates legal section |
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| Advocating for genetics at the local level: The Medicare Part B Carrier Advisory Committee |
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| Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy |
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| Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C |
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| Meetings calender |
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| Genotypes and phenotypes |
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| Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes |
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| Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome) |
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| Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion |
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| Communication issues in 22q11.2 deletion syndrome: Children at risk |
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| Announcement |
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| Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel |
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| Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial |
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| Reviewer Acknowledgment |
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| College News |
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| Erratum |
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| Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey |
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| Do geneticists need Babel fish? |
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| Health Insurance Portability and Accountability Act is here: What price privacy? |
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| Considerations for a multiaxis nomenclature system for medical genetics |
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| Erratum: Reviewer Acknowledgment |
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| Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm |
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| Medical Genetics Calendar |
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| Reporting BRCA test results to primary care physicians |
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| Genetic and molecular bases of peroxisome biogenesis disorders |
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| College News |
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| Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia |
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| Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation |
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| Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations |
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| Clinical genetics: Compassion, access, science, and advocacy |
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| Genetics and Managed Care: Policy Statement of the American College of Medical Genetics |
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| 2002 ANNUAL CLINICAL GENETICS MEETING |
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| Meetings Calendar |
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| Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! |
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| Anatomic patterns of conotruncal defects associated with deletion 22q11 |
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| Cystic fibrosis population carrier screening: Here at last—Are we ready? |
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| Down syndrome congenital heart disease: A narrowed region and a candidate gene |
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| American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing |
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| Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness |
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| Contribution of sickle cell disease to the occurrence of developmental disabilities: A population-based study |
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| Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Me |
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| American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy |
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| College News |
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| Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency |
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✓ |
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African Americans |
| Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a “hot spot” for mutation in the SALL1 gene |
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| Packed red cell transfusion does not compromise chromosome analysis in newborns |
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| Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism |
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| What is genetic discrimination, and when and how can it be prevented? |
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| FMR1 and the fragile X syndrome: Human genome epidemiology review |
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| Phenotype and genotype variation in primary carnitine deficiency |
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| Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics |
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| Editor's comments |
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| 22q11.2 microdeletions in adults with familial tetralogy of Fallot |
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| Greece: The Hellenic Association of Medical Geneticists |
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