| Announcements11.Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
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| Notice of Policy |
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| This Month in the Journal |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
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| This Month in the Journal |
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| Announcements |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| Editorial Reviewers for 2003 |
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| This Month in the Journal |
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| Erratum |
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| This Month in the Journal |
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| This Month in the Journal |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| This Month in the<i>Journal</i> |
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| This Month in the<i>Journal</i> |
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| Employment Opportunites; Training Programs |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
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| Employment Opportunities; Course; Meeting; Conference |
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| This Month in the<i>Journal</i> |
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| Employment Opportunities |
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| Notice of Policy |
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| This Month in the<i>Journal</i> |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| Contents of Volume 72 |
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| Employment Opportunities; Resources for Human Genetic Research; ABMG Diplomates |
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| Employment Opportunities; Call for Patients; Course |
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| Editorial Reviewers for 2003 |
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| This Month in the<i>Journal</i> |
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| Contents of Volume 73 |
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| Announcements1 |
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| Allelic Heterogeneity in LINE-1 Retrotransposition Activity |
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| Further Evidence of IBD5/CARD15 (NOD2) Epistasis in the Susceptibility to Ulcerative Colitis |
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| Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 |
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| Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations |
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| Genetic Anthropology of the Colorectal Cancer–Susceptibility Allele APC I1307K: Evidence of Genetic Drift within the Ashkenazim |
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✓ |
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Ashkenazim |
| MDR1 Ala893 Polymorphism Is Associated with Inflammatory Bowel Disease |
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| The DTNBP1 (Dysbindin) Gene Contributes to Schizophrenia, Depending on Family History of the Disease |
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| Erratum |
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| Erratum |
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| Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities |
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| Predisposition Locus for Major Depression at Chromosome 12q22-12q23.2 |
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| Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 |
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| Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study |
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| A Systematic Genomewide Linkage Study in 353 Sib Pairs with Schizophrenia |
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| SVA Elements Are Nonautonomous Retrotransposons that Cause Disease in Humans |
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| Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation |
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| Reports of the Death of the Epistasis Model Are Greatly Exaggerated |
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| Comparative Linkage-Disequilibrium Analysis of the β-Globin Hotspot in Primates |
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| Affected-Sib-Pair Data Can Be Used to Distinguish Two-Locus Heterogeneity from Two-Locus Epistasis |
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| Reply to Cordell and Farrall |
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| Cockayne Syndrome Group B Cellular and Biochemical Functions |
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| Fine-Scale Mapping of Disease Genes with Multiple Mutations via Spatial Clustering Techniques |
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| Informativeness of Genetic Markers for Inference of Ancestry* |
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| A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting |
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| Inference on Haplotype Effects in Case-Control Studies Using Unphased Genotype Data |
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| Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations |
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| Search for Haplotype Interactions That Influence Susceptibility to Type 1 Diabetes, through Use of Unphased Genotype Data |
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| Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers |
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| Genomewide Distribution of High-Frequency, Completely Mismatching SNP Haplotype Pairs Observed To Be Common across Human Populations |
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| David M. Danks, M.D., A.O. (June 4, 1931–July 8, 2003):Founder, Murdoch Childrens Research Institute |
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| Sequence Analysis in a Nutshell: A Guide to Common Tools and Databases |
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| Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia |
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| Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes |
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| Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size |
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| Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26) |
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| A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data |
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| RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa |
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| Localization of a Gene for Migraine without Aura to Chromosome 4q21 |
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| A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar |
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| Origin and Diffusion of mtDNA Haplogroup X |
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| Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation |
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| Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients |
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| Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22 |
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| Meta-Analysis and a Large Association Study Confirm a Role for Calpain-10 Variation in Type 2 Diabetes Susceptibility |
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| Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity |
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| Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults |
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| Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells |
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| eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs |
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| Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity |
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| Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy |
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| Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis |
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| Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries |
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✓ |
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European Ancestries |
| Genomic Imprinting and Linkage Test for Quantitative-Trait Loci in Extended Pedigrees |
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| Genomewide Linkage and Linkage Disequilibrium Analyses Identify COL6A1, on Chromosome 21, as the Locus for Ossification of the Posterior Longitudinal Ligament of the Spine |
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| Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract |
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| Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis |
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| Erratum |
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| HLA-DRB1*1101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites |
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✓ |
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Blacks and Whites |
| Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 |
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| The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm |
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| A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions |
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| Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions |
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| SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6 |
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| Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype |
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✓ |
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Different European Origins |
| Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families |
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| Recent Advances in Human Quantitative-Trait–Locus Mapping: Comparison of Methods for Selected Sibling Pairs |
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| Recent Advances in Human Quantitative-Trait–Locus Mapping: Comparison of Methods for Discordant Sibling Pairs |
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| Using the Noninformative Families in Family-Based Association Tests: A Powerful New Testing Strategy |
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| An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications |
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| Loss of CpG Methylation Is Strongly Correlated with Loss of Histone H3 Lysine 9 Methylation at DMR-LIT1 in Patients with Beckwith-Wiedemann Syndrome |
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| A Genomewide Screen of 345 Families for Autism-Susceptibility Loci |
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| Erroneous Claims about the Impact of Mitochondrial DNA Sequence Database Errors |
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| Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by |
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| NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) |
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| “Are We There Yet?”: Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits |
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| This Month in the Journal |
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| Genetic Disorders of the Skeleton: A Developmental Approach |
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| ACTN3 Genotype Is Associated with Human Elite Athletic Performance |
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| A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 |
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| Age-Related Macular Degeneration—a Genome Scan in Extended Families |
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| Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences |
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| CARD15: a Pleiotropic Autoimmune Gene That Confers Susceptibility to Psoriatic Arthritis |
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| Assessing the Performance of the Haplotype Block Model of Linkage Disequilibrium |
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| A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data |
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| Natural Selection on the Olfactory Receptor Gene Family in Humans and Chimpanzees |
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| A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study |
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| Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster |
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| Genomewide Linkage Scan for Schizophrenia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 10q22 |
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✓ |
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Ashkenazi Jewish |
| Reflections of Our Past: How Human History Is Revealed in Our Genes |
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| Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3 |
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| Novel Case-Control Test in a Founder Population Identifies P-Selectin as an Atopy-Susceptibility Locus |
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| Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation |
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| This Month in the Journal |
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| MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2) |
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| Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas |
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| A Novel Y-Chromosome Variant Puts an Upper Limit on the Timing of First Entry into the Americas |
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| ERRATUM |
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| Effects of Electron-Beam Irradiation on Buccal-Cell DNA |
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| Miller-Dieker Syndrome: Analysis of a Human Contiguous Gene Syndrome in the Mouse |
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| Selection and Evaluation of Tagging SNPs in the Neuronal-Sodium-Channel Gene SCN1A: Implications for Linkage-Disequilibrium Gene Mapping |
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| An Integrated Haplotype Map of the Human Major Histocompatibility Complex |
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| Dependence of Mutational Asymmetry on Gene-Expression Levels in the Human Genome |
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| ERRATUM |
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| Transmission/Disequilibrium Test Based on Haplotype Sharing for Tightly Linked Markers |
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| Estimation of the Inbreeding Coefficient through Use of Genomic Data |
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| Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria |
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| Association of Specific Language Impairment (SLI) to the Region of 7q31 |
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| Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations |
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| Familial and Ovarian Cancer: Genetics, Screening and Management |
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| Errors, Phantom and Otherwise, in Human mtDNA Sequences |
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| South Asia, the Andamanese, and the Genetic Evidence for an “Early” Human Dispersal out of Africa |
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| Reply to Cordaux and Stoneking |
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| A Genomewide Screen for Generalized Vitiligo: Confirmation of AIS1 on Chromosome 1p31 and Evidence for Additional Susceptibility Loci |
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| A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 |
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| A Populationwide Coalescent Analysis of Icelandic Matrilineal and Patrilineal Genealogies: Evidence for a Faster Evolutionary Rate of mtDNA Lineages than Y Chromosomes |
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| Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport |
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| The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity |
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| A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study |
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| Variation in the HLA-G Promoter Region Influences Miscarriage Rates |
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| Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy |
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| Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation |
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| Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations |
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| Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 |
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| Essentials of Medical Genomics |
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| Control of Confounding of Genetic Associations in Stratified Populations |
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| Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia |
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| Reply to Bunce et al. |
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| Single-Nucleotide Polymorphisms and Glaucoma Severity |
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| Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate |
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✓ |
|
Sardinian genetic isolate |
| Two Modes of Germline Instability at Human Minisatellite MS1 (Locus D1S7): Complex Rearrangements and Paradoxical Hyperdeletion |
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| Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss |
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| Association and Interaction of the IL4R, IL4, and IL13 Loci with Type 1 Diabetes among Filipinos |
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| A Novel Class of Tests for the Detection of Mitochondrial DNA–Mutation Involvement in Diseases |
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| A Neutral Explanation for the Correlation of Diversity with Recombination Rates in Humans |
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| Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH |
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| Babyface: A Story of Heart and Bones |
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| DNA Microarrays: A Molecular Cloning Manual |
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| Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13 |
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| IBD5 is a General Risk Factor for Inflammatory Bowel Disease: Replication of Association with Crohn Disease and Identification of a Novel Association with Ulcerative Colitis |
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| Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B |
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| Hot and Cold Spots of Recombination in the Human Genome: the Reason We Should Find Them and How This Can Be Achieved |
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| Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America |
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| Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype |
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| Haplotype Block Partition with Limited Resources and Applications to Human Chromosome 21 Haplotype Data |
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| Minimum Description Length Block Finder, a Method to Identify Haplotype Blocks and to Compare the Strength of Block Boundaries |
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| Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder |
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| Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis |
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| Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia |
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| Selection of Genetic Markers for Association Analyses, Using Linkage Disequilibrium and Haplotypes |
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| Genomewide Linkage Analyses of Bipolar Disorder: A New Sample of 250 Pedigrees from the National Institute of Mental Health Genetics Initiative |
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| Two-Locus Heterogeneity Cannot Be Distinguished from Two-Locus Epistasis on the Basis of Affected-Sib-Pair Data |
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| Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome |
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| Mutational Mechanisms of Williams-Beuren Syndrome Deletions |
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| A Haplotype Implicated in Schizophrenia Susceptibility Is Associated with Reduced COMT Expression in Human Brain |
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| Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation |
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| Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome |
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| Crossover Interference in Humans |
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| Sheldon C. Reed, Ph.D. (November 7, 1910–February 1, 2003): Genetic Counseling, Behavioral Genetics |
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| Erratum |
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| Sequence Variants of the Brain-Derived Neurotrophic Factor (BDNF) Gene Are Strongly Associated with Obsessive-Compulsive Disorder |
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| Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation |
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| Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia |
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| BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy |
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| A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2 |
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| The Possibility of a Selection Process in the Ashkenazi Jewish Population |
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| Selection in the Ashkenazi Jewish Population Unlikely—Reply to Zlotogora and Bach |
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| Finding Haplotype Block Boundaries by Using the Minimum-Description-Length Principle |
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| New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype |
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| Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia |
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| Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway |
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| Erratum |
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| Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1 |
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| A 3.9-Centimorgan-Resolution Human Single-Nucleotide Polymorphism Linkage Map and Screening Set |
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| Linkage Disequilibrium and Inference of Ancestral Recombination in 538 Single-Nucleotide Polymorphism Clusters across the Human Genome |
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| Localization of a Susceptibility Gene for Type 2 Diabetes to Chromosome 5q34–q35.2 |
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| Localization of a Novel Melanoma Susceptibility Locus to 1p22 |
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| A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12.1-16q12.2 |
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| Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q |
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| Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis |
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| The International Psoriasis Genetics Study: Assessing Linkage to 14 Candidate Susceptibility Loci in a Cohort of 942 Affected Sib Pairs |
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| African American Hypertensive Nephropathy Maps to a New Locus on Chromosome 9q31-q32 |
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| Notice of Retraction |
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| This Month in the Journal |
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| Genetic Evidence for Interaction of the 5q31 Cytokine Locus and the CARD15 Gene in Crohn Disease |
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| This Month in the Journal |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
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| Richard H. Ward, Ph.D. (June 7, 1943–February 14, 2003): Wild Ride of the Valkyries |
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| Cleft Lip and Palate: From Origin to Treatment. |
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| Overgrowth Syndromes. |
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| Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect |
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| Erratum |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| Erratum |
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| PowerTrim: An Automated Decision Support Algorithm for Preprocessing Family-Based Genetic Data |
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| The Emperor’s New Methods |
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| An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome |
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✓ |
|
Ancestral Ashkenazi |
| Erratum |
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| Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects |
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| Identification of IκBL as the Second Major Histocompatibility Complex–Linked Susceptibility Locus for Rheumatoid Arthritis |
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| Mice Lacking Zfhx1b, the Gene That Codes for Smad-Interacting Protein-1, Reveal a Role for Multiple Neural Crest Cell Defects in the Etiology of Hirschsprung Disease–Mental Retardation Syndrome |
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| Hierarchical Modeling of Linkage Disequilibrum: Genetic Structure and Spatial Relations |
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| Education: A Joint Effort**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 19, 2002. |
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| 2002 Cotterman Award Winners |
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| Confirmatory Evidence for Linkage of Relative Hand Skill to 2p12-q11 |
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| A Novel NOD2/CARD15 Haplotype Conferring Risk for Crohn Disease in Ashkenazi Jews |
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| Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease |
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| Human Population Genetic Structure and Inference of Group Membership |
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| Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome |
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| Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test |
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| Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia |
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| The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates |
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| Informative Missingness in Genetic Association Studies: Case-Parent Designs |
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| Rapid Direct Sequence Analysis of the Dystrophin Gene |
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| Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-Density Lipoprotein Cholesterol on Chromosome 16q |
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| Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3 |
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| Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002) |
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| Estimation and Testing of Parent-of-Origin Effects for Quantitative Traits |
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| In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene |
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| Down Syndrome: Visions for the 21st Century |
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| KLOTHO Allele Status and the Risk of Early-Onset Occult Coronary Artery Disease |
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| The CHEK2 1100delC Mutation Identifies Families with a Hereditary Breast and Colorectal Cancer Phenotype |
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| A Genomewide Scan for Attention-Deficit/Hyperactivity Disorder in an Extended Sample: Suggestive Linkage on 17p11 |
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| Molecular Cytogenetics: Protocols and Applications |
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| FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation |
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| Introductory Speech for Albert de la Chapelle**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 18, 2002. |
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| Introductory Speech for James R. Lupski**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 19, 2002. |
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| Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of Crossovers in Chromosome 21 Nondisjunction |
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| Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles |
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| The Genetic Legacy of the Mongols |
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| Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy |
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| A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data |
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| Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin α Cluster |
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| Genes and Mechanisms in Vertebrate Sex Determination, The Genetics and Biology of Sex Determination. |
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| Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes |
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| Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease |
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| Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene |
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| Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility |
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| Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements |
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| Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage |
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| Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk |
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| Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E |
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| Reply to Silva et al. |
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| A Method for the Assessment of Disease Associations with Single-Nucleotide Polymorphism Haplotypes and Environmental Variables in Case-Control Studies |
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| Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome |
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| A Family-Based Test for Correlation between Gene Expression and Trait Values |
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| Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome |
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| A Whole-Genome Scan for Obstructive Sleep Apnea and Obesity |
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| Identification of PEX7 as the Second Gene Involved in Refsum Disease |
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| Studying Parents and Grandparents to Assess Genetic Contributions to Early-Onset Disease |
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| Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1) |
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| Simulation-Based P Values: Response to North et al. |
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| The Complexity of Complex Diseases**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 16, 2002. |
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| Failure to Find DUP25 in Patients with Anxiety Disorders, in Control Individuals, or in Previously Reported Positive Control Cell Lines |
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| Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes |
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| Accumulation of Mitochondrial DNA Mutations in Human Immunodeficiency Virus–Infected Patients Treated with Nucleoside-Analogue Reverse-Transcriptase Inhibitors |
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| Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 |
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| Large Differences between LINE-1 Amplification Rates in the Human and Chimpanzee Lineages |
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| Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density |
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| Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease |
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| ATLAS: A System to Selectively Identify Human-Specific L1 Insertions |
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| Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomi |
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| Evidence for a Gene Influencing Serum Bilirubin on Chromosome 2q Telomere: A Genomewide Scan in the Framingham Study |
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| Genome Association Studies of Complex Diseases by Case-Control Designs |
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| Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism |
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| Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease |
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| Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates |
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| Significant Linkage of Parkinson Disease to Chromosome 2q36-37 |
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| Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe th |
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| Native American Y Chromosomes in Polynesia: The Genetic Impact of the Polynesian Slave Trade |
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| Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glau |
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| Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V |
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| Correction: Mitochondrial DNA Variation in Amerindians |
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| Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37 |
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| Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland |
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| A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q |
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| Cost-Effective Designs for Linkage Disequilibrium Mapping of Complex Traits |
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| Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome |
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| Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma |
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| Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea |
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| Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene |
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| On Estimating P Values by Monte Carlo Methods |
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| Introductory Speech for Kurt Hirschhorn**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 19, 2002. |
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| HLA-DR2 Dose Effect on Susceptibility to Multiple Sclerosis and Influence on Disease Course |
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| Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| Use of Multivariate Linkage Analysis for Dissection of a Complex Cognitive Trait |
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| Erratum |
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| Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q |
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| Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation |
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| Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri du Chat Syndrome |
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| Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series* |
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| Past Exposure to Densely Ionizing Radiation Leaves a Unique Permanent Signature in the Genome |
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| A Multicolor FISH Assay Does Not Detect DUP25 in Control Individuals or in Reported Positive Control Cells |
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| The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England |
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| Estimation of Haplotype Frequencies, Linkage-Disequilibrium Measures, and Combination of Haplotype Copies in Each Pool by Use of Pooled DNA Data |
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| Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene |
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| Inherited Human Diseases: Victories, Challenges, Disappointments**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 18, 2002. |
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| Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia |
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| This Month in the Journal |
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| Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs |
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| 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene |
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| To Trust or Not to Trust an Idiosyncratic Mitochondrial Data Set |
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| This Month in the Journal |
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| The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations |
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| Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia |
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| CD36 Polymorphism Is Associated with Protection from Cerebral Malaria |
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| Mutations in CHEK2 Associated with Prostate Cancer Risk |
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| A Note on the Calculation of Empirical P Values from Monte Carlo Procedures |
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| Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 19, 20 |
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| Genomewide Linkage Analysis Identifies Polymorphism in the Human Interferon-γ Receptor Affecting Helicobacter pylori Infection |
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| SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6 |
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| Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes |
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| The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats |
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| Splitting p63 |
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| On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit |
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| Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene |
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| Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects |
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| Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations |
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| Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers |
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| Skewed X-Chromosome Inactivation Is Associated with Trisomy in Women Ascertained on the Basis of Recurrent Spontaneous Abortion or Chromosomally Abnormal Pregnancies |
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| Resolving ATM Haplotypes in Whites |
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| Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection |
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| Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips |
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| Elevated Risk for MPNST in NF1 Microdeletion Patients |
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| Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies |
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| Distribution Patterns of Postmortem Damage in Human Mitochondrial DNA |
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| Support for Association of Schizophrenia with Genetic Variation in the 6p22.3 Gene, Dysbindin, in Sib-Pair Families with Linkage and in an Additional Sample of Triad Families |
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| Pharmacogenomics. |
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| Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children |
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| A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 |
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| Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α-Galactosidase A mRNA |
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| Characterization of Genetic Miscoding Lesions Caused by Postmortem Damage |
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| A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population |
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| A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma |
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| The Genetic Origins of the Andaman Islanders |
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| A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia |
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| Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy |
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| A Susceptibility Gene for Psoriatic Arthritis Maps to Chromosome 16q: Evidence for Imprinting |
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| Comparison of Genome Screens for Two Independent Cohorts Provides Replication of Suggestive Linkage of Bone Mineral Density to 3p21 and 1p36 |
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| Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| The Molecule Hunt. |
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| Hereditary p16-Leiden Mutation in a Patient with Multiple Head and Neck Tumors |
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| Identification of CRYM as a Candidate Responsible for Nonsyndromic Deafness, through cDNA Microarray Analysis of Human Cochlear and Vestibular Tissues**Nucleotide sequence data reported herein are ava |
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| NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes |
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| Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19 |
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| This Month in the Journal |
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| Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 Gene |
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| Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families |
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| Association between the Severity of Angiographic Coronary Artery Disease and Paraoxonase Gene Polymorphisms in the National Heart, Lung, and Blood Institute–Sponsored Women’s Ischemia Syndrome Evaluat |
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| Association of Neuregulin 1 with Schizophrenia Confirmed in a Scottish Population |
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| Interacting Genetic Loci on Chromosomes 20 and 10 Influence Extreme Human Obesity |
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| Erratum |
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| Significant Linkage on Chromosome 10p in Families with Bulimia Nervosa |
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| Common Sequence Variants of the Macrophage Scavenger Receptor 1 Gene Are Associated with Prostate Cancer Risk |
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