| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Tumor‐Necrosis‐Factor Receptor–Associated Periodic Syndrome: New Mutations in<i>TNFRSF1A,</i>Ancestral Origins, Genotype‐Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Period |
|
|
|
|
|
|
|
|
|
| A Common Ancestral Origin of the Frequent and Widespread 2299delG<i>USH2A</i>Mutation |
|
|
|
|
|
|
|
|
|
| Genetic and Mutational Analysis of a Large Multiethnic Bardet‐Biedl Cohort Reveal a Minor Involvement of<i>BBS6</i>and Delineate the Critical Intervals of Other Loci |
|
|
|
|
|
|
|
|
|
| Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats‐Like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue I (<i>CRB1</i>) Gene |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| 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, Emory Uni |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| Contents of Volume 68 |
|
|
|
|
|
|
|
|
|
| Periaxin Mutations Cause Recessive Dejerine‐Sottas Neuropathy |
|
|
|
|
|
|
|
|
|
| High‐Resolution Multipoint Linkage‐Disequilibrium Mapping in the Context of a Human Genome Sequence |
|
|
|
|
|
|
|
|
|
| A Genomewide Screen for Autism Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| Contents of Volume 69 |
|
|
|
|
|
|
|
|
|
| The Amyloid Precursor Protein Locus and Very‐Late‐Onset Alzheimer Disease |
|
|
|
|
|
|
|
|
|
| Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 |
|
|
|
|
|
|
|
|
|
| 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, Emory Uni |
|
|
|
|
|
|
|
|
|
| Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? |
|
|
|
|
|
|
|
|
|
| Multipoint Genetic Mapping with Trisomy Data |
|
|
|
|
|
|
|
|
|
| Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome |
|
|
|
|
|
|
|
|
|
| Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q |
|
|
|
|
|
|
|
|
|
| Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews |
|
|
|
|
|
|
✓ |
|
Iraqi Jews |
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features |
|
|
|
|
|
|
|
|
|
| Evidence for a Susceptibility Gene, SLEV1, on Chromosome 17p13 in Families with Vitiligo-Related Systemic Lupus Erythematosus |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene |
|
|
|
|
|
|
|
|
|
| A Genomewide Search for Quantitative-Trait Loci Underlying Asthma |
|
|
|
|
|
|
|
|
|
| Origins and Divergence of the Roma (Gypsies) |
|
|
|
|
|
|
|
|
|
| A Genomewide Scan for Type 1–Diabetes Susceptibility in Scandinavian Families: Identification of New Loci with Evidence of Interactions |
|
|
|
|
|
|
|
|
|
| Parent-Specific Complementary Patterns of Histone H3 Lysine 9 and H3 Lysine 4 Methylation at the Prader-Willi Syndrome Imprinting Center |
|
|
|
|
|
|
|
|
|
| Large Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans |
|
|
|
|
|
|
|
|
|
| The Discovery of Single-Nucleotide Polymorphisms—and Inferences about Human Demographic History |
|
|
|
|
|
|
|
|
|
| A Second Leaky Splice-Site Mutation in the Spastin Gene |
|
|
|
|
|
|
|
|
|
| Editorial Reviewers for 2001 |
|
|
|
|
|
|
|
|
|
| Type 2 Diabetes and Three Calpain-10 Gene Polymorphisms in Samoans: No Evidence of Association |
|
|
|
|
|
|
|
|
|
| Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is Associated with Polymorphisms Upstream of PRNP Exon 1 |
|
|
|
|
|
|
|
|
|
| Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures |
|
|
|
|
|
|
|
|
|
| Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan |
|
|
|
|
|
|
|
|
|
| The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway |
|
|
|
|
|
|
|
|
|
| Huntington Disease Phenocopy Is a Familial Prion Disease |
|
|
|
|
|
|
|
|
|
| Polysubstance Abuse–Vulnerability Genes: Genome Scans for Association, Using 1,004 Subjects and 1,494 Single-Nucleotide Polymorphisms |
|
|
|
|
|
|
|
|
|
| The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy |
|
|
|
|
|
|
|
|
|
| A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel |
|
|
|
|
|
|
✓ |
|
Bedouin Families from Israel |
| Genomewide Multipoint Linkage Analysis of Seven Extended Palauan Pedigrees with Schizophrenia, by a Markov-Chain Monte Carlo Method |
|
|
|
|
|
|
|
|
|
| Monogenic Dyslipidemias: Window on Determinants of Plasma Lipoprotein Metabolism |
|
|
|
|
|
|
|
|
|
| Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy |
|
|
|
|
|
|
|
|
|
| Linkage and Association Studies of Prostate Cancer Susceptibility: Evidence for Linkage at 8p22-23 |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13 |
|
|
|
|
|
|
|
|
|
| Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts |
|
|
|
|
|
|
|
|
|
| The Importance of Genealogy in Determining Genetic Associations with Complex Traits |
|
|
|
|
|
|
|
|
|
| Genetics of Schizophrenia and the New Millennium: Progress and Pitfalls |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of a Complex Pedigree with Severe Bipolar Disorder, Using a Markov Chain Monte Carlo Method |
|
|
|
|
|
|
|
|
|
| Genetics of Event-Related Brain Potentials in Response to a Semantic Priming Paradigm in Families with a History of Alcoholism |
|
|
|
|
|
|
|
|
|
| A Survey of Affected-Sibship Statistics for Nonparametric Linkage Analysis |
|
|
|
|
|
|
|
|
|
| At the Speed of Sound: Gene Discovery in the Auditory System |
|
|
|
|
|
|
|
|
|
| Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency |
|
|
|
|
|
|
|
|
|
| Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition |
|
|
|
|
|
|
|
|
|
| Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma |
|
|
|
|
|
|
|
|
|
| Genomewide Search in Familial Paget Disease of Bone Shows Evidence of Genetic Heterogeneity with Candidate Loci on Chromosomes 2q36, 10p13, and 5q35 |
|
|
|
|
|
|
|
|
|
| A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 |
|
|
|
|
|
|
|
|
|
| Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis |
|
|
|
|
|
|
|
|
|
| Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 |
|
|
|
|
|
|
|
|
|
| Efficient Multipoint Linkage Analysis through Reduction of Inheritance Space |
|
|
|
|
|
|
|
|
|
| Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F |
|
|
|
|
|
|
|
|
|
| Transmission/Disequilibrium Test Meets Measured Haplotype Analysis: Family-Based Association Analysis Guided by Evolution of Haplotypes |
|
|
|
|
|
|
|
|
|
| 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, Emory Uni |
|
|
|
|
|
|
|
|
|
| Quantitative-Trait-Locus Analysis of Body-Mass Index and of Stature, by Combined Analysis of Genome Scans of Five Finnish Study Groups |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Reply to Kosaki et al. |
|
|
|
|
|
|
|
|
|
| Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis |
|
|
|
|
|
|
|
|
|
| Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype |
|
|
|
|
|
|
|
|
|
| Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer |
|
|
|
|
|
|
|
|
|
| The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fe |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Mitochondria and the Quality of Human Gametes |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium in Humans: Models and Data |
|
|
|
|
|
|
|
|
|
| p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation |
|
|
|
|
|
|
|
|
|
| Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 |
|
|
|
|
|
|
|
|
|
| Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome |
|
|
|
|
|
|
|
|
|
| Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study |
|
|
|
|
|
|
|
|
|
| HPC2 Variants and Screen-Detected Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia |
|
|
|
|
|
|
|
|
|
| After BRCA1 and BRCA2—What Next? Multifactorial Segregation Analyses of Three-Generation, Population-Based Australian Families Affected by Female Breast Cancer |
|
|
|
|
|
|
|
|
|
| Multipoint Linkage-Disequilibrium–Mapping Approach Based on the Case-Parent Trio Design |
|
|
|
|
|
|
|
|
|
| The Phylogeography of Brazilian Y-Chromosome Lineages |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome) |
|
|
|
|
|
|
|
|
|
| Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels |
|
|
|
|
|
|
|
|
|
| Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications |
|
|
|
|
|
|
|
|
|
| Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy |
|
|
|
|
|
|
|
|
|
| Complexity and Power in Case-Control Association Studies |
|
|
|
|
|
|
|
|
|
| A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies |
|
|
|
|
|
|
|
|
|
| Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus |
|
|
|
|
|
|
|
|
|
| A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24 |
|
|
|
|
|
|
|
|
|
| Gene Preference in Maple Syrup Urine Disease |
|
|
|
|
|
|
|
|
|
| Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16 |
|
|
|
|
|
|
|
|
|
| Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy |
|
|
|
|
|
|
|
|
|
| Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency |
|
|
|
|
|
|
|
|
|
| High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula |
|
|
|
|
|
|
|
|
|
| The Presence of Mitochondrial Haplogroup X in Altaians from South Siberia |
|
|
|
|
|
|
|
|
|
| A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation |
|
|
|
|
|
|
|
|
|
| A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus |
|
|
|
|
|
|
|
|
|
| Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Ric |
|
|
|
|
|
|
|
|
|
| Employment Opportunities; Call for Patients |
|
|
|
|
|
|
|
|
|
| Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds |
|
|
|
|
|
|
|
|
|
| Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia |
|
|
|
|
|
|
|
|
|
| The Ising Model in Physics and Statistical Genetics |
|
|
|
|
|
|
|
|
|
| Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 |
|
|
|
|
|
|
|
|
|
| Homocysteine Metabolism in Children with Down Syndrome: In Vitro Modulation |
|
|
|
|
|
|
|
|
|
| Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus |
|
|
|
|
|
|
|
|
|
| Evaluation of Candidate Genes in Case-Control Studies: A Statistical Method to Account for Related Subjects |
|
|
|
|
|
|
|
|
|
| Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma |
|
|
|
|
|
|
|
|
|
| The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions |
|
|
|
|
|
|
|
|
|
| A Genomewide Screen for Autism Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| Evidence of Linkage with HLA-DR in DRB1*15-Negative Families with Multiple Sclerosis |
|
|
|
|
|
|
|
|
|
| Comparisons of Two Methods for Haplotype Reconstruction and Haplotype Frequency Estimation from Population Data |
|
|
|
|
|
|
|
|
|
| Assessment of Parent-of-Origin Effects in Linkage Analysis of Quantitative Traits |
|
|
|
|
|
|
|
|
|
| Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| Genetics and Public Health in the 20th Century. |
|
|
|
|
|
|
|
|
|
| Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions |
|
|
|
|
|
|
|
|
|
| The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4 |
|
|
|
|
|
|
|
|
|
| Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age |
|
|
|
|
|
|
|
|
|
| The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Analysis of Stature in Multiple Populations Reveals Several Regions with Evidence of Linkage to Adult Height |
|
|
|
|
|
|
|
|
|
| Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination Pathway |
|
|
|
|
|
|
|
|
|
| This Month in the |
|
|
|
|
|
|
|
|
|
| A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians |
|
|
|
|
|
|
✓ |
|
Asians |
| Reporting of Linkage Results |
|
|
|
|
|
|
|
|
|
| A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency |
|
|
|
|
|
|
|
|
|
| Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein |
|
|
|
|
|
|
|
|
|
| The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures |
|
|
|
|
|
|
|
|
|
| Estimating the Efficacy and Efficiency of Cascade Genetic Screening |
|
|
|
|
|
|
|
|
|
| The Significance of Not Finding a Gene |
|
|
|
|
|
|
|
|
|
| A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye |
|
|
|
|
|
|
|
|
|
| Phylogenetic Network for European mtDNA |
|
|
|
|
✓ |
|
|
|
European mtDNA |
| Bilineal Disease and Trans-Heterozygotes in Autosomal Dominant Polycystic Kidney Disease |
|
|
|
|
|
|
|
|
|
| Complex HLA-DR and -DQ Interactions Confer Risk of Narcolepsy-Cataplexy in Three Ethnic Groups |
|
|
|
|
|
|
|
|
|
| Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36 |
|
|
|
|
|
|
|
|
|
| CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy* |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| A Nonsense Mutation in MSX1 Causes Witkop Syndrome |
|
|
|
|
|
|
|
|
|
| Female Patient Showing Hypohidrotic Ectodermal Dysplasia and Immunodeficiency (HED-ID) |
|
|
|
|
|
|
|
|
|
| Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation |
|
|
|
|
|
|
|
|
|
| A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Lo |
|
|
|
|
|
|
|
|
|
| Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans |
|
|
|
|
|
|
|
|
|
| Studies of Association between the Gene for Calpain-10 and Type 2 Diabetes Mellitus in the United Kingdom |
|
|
|
|
|
|
|
|
|
| Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation |
|
|
|
|
|
|
|
|
|
| Accounting for Unmeasured Population Substructure in Case-Control Studies of Genetic Association Using a Novel Latent-Class Model |
|
|
|
|
|
|
|
|
|
| Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene |
|
|
|
|
|
|
|
|
|
| Etiological Point Mutations in the Hereditary Multiple Exostoses Gene EXT1: A Functional Analysis of Heparan Sulfate Polymerase Activity |
|
|
|
|
|
|
|
|
|
| Genome Diversity: Applications in Human Population Genetics. |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| 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, Emory Uni |
|
|
|
|
|
|
|
|
|
| A Duplication in Chromosome 4q35 Is Associated with Hereditary Benign Intraepithelial Dyskeratosis |
|
|
|
|
|
|
|
|
|
| Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations |
|
|
|
|
|
|
|
|
|
| BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| 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, Emory Univ |
|
|
|
|
|
|
|
|
|
| Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) Expression |
|
|
|
|
|
|
|
|
|
| A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13 |
|
|
|
|
|
|
|
|
|
| Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14 |
|
|
|
|
|
|
|
|
|
| Association between a Single-Nucleotide Polymorphism in the Promoter of the Human Interleukin-3 Gene and Rheumatoid Arthritis in Japanese Patients, and Maximum-Likelihood Estimation of Combinatorial E |
|
|
|
|
|
|
|
|
|
| Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Chara |
|
|
|
|
|
|
|
|
|
| CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders |
|
|
|
|
|
|
|
|
|
| Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations |
|
|
|
|
|
|
|
|
|
| Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family |
|
|
|
|
|
|
|
|
|
| A Schizophrenia-Susceptibility Locus at 6q25, in One of the World's Largest Reported Pedigrees |
|
|
|
|
|
|
|
|
|
| Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| Reply to Geigl |
|
|
|
|
|
|
|
|
|
| On Discovery, Genomes, The Society, and Society* |
|
|
|
|
|
|
|
|
|
| Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains |
|
|
|
|
|
|
|
|
|
| Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes |
|
|
|
|
|
|
|
|
|
| Paget Disease of Bone: Mapping of Two Loci at 5q35-qter and 5q31 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene |
|
|
|
|
|
|
|
|
|
| A Signal, from Human mtDNA, of Postglacial Recolonization in Europe |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes |
|
|
|
|
|
|
|
|
|
| Familial Dysautonomia Is Caused by Mutations of the IKAP Gene |
|
|
|
|
|
|
|
|
|
| Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia |
|
|
|
|
|
|
|
|
|
| A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy |
|
|
|
|
|
|
|
|
|
| Identification of a New Candidate Locus for Uric Acid Nephrolithiasis |
|
|
|
|
|
|
|
|
|
| Connexin Mutations in Skin Disease and Hearing Loss |
|
|
|
|
|
|
|
|
|
| The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas |
|
|
|
|
|
|
|
|
|
| Lactase Haplotype Diversity in the Old World |
|
|
|
|
|
|
|
|
|
| Broad and Narrow Heritabilities of Quantitative Traits in a Founder Population |
|
|
|
|
|
|
|
|
|
| Correcting for a Potential Bias in the Pedigree Disequilibrium Test |
|
|
|
|
|
|
|
|
|
| Vacuoliting Megalencephalic Leukoencephalopathy |
|
|
|
|
|
|
|
|
|
| A New Statistical Method for Haplotype Reconstruction from Population Data |
|
|
|
|
|
|
|
|
|
| Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates |
|
|
|
|
|
|
|
|
|
| Reply to Rothhammer and Moraga |
|
|
|
|
|
|
|
|
|
| Reply to Vasen et al. |
|
|
|
|
|
|
|
|
|
| Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity |
|
|
|
|
|
|
|
|
|
| International Collaboration Provides Convincing Linkage Replication in Complex Disease through Analysis of a Large Pooled Data Set: Crohn Disease and Chromosome 16 |
|
|
|
|
|
|
|
|
|
| Patterns of Y-Chromosome Variation in South Amerindians |
|
|
|
|
|
|
|
|
|
| Conflicting Reports of Imprinting Status of Human GRB10 in Developing Brain: How Reliable Are Somatic Cell Hybrids for Predicting Allelic Origin of Expression? |
|
|
|
|
|
|
|
|
|
| Decoding Darkness: The Search for the Genetic Causes of Alzheimer’s Disease. |
|
|
|
|
|
|
|
|
|
| Seven Regions of the Genome Show Evidence of Linkage to Type 1 Diabetes in a Consensus Analysis of 767 Multiplex Families |
|
|
|
|
|
|
|
|
|
| Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer |
|
|
|
|
|
|
|
|
|
| A Major Locus for Fasting Insulin Concentrations and Insulin Resistance on Chromosome 6q with Strong Pleiotropic Effects on Obesity-Related Phenotypes in Nondiabetic Mexican Americans |
|
|
|
|
|
|
✓ |
|
Mexican Americans |
| Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene |
|
|
|
|
|
|
|
|
|
| Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome |
|
|
|
|
|
|
|
|
|
| The Mitochondrial Gene Tree Comes of Age |
|
|
|
|
|
|
|
|
|
| A Genome Screen of Families with Multiple Cases of Prostate Cancer: Evidence of Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| The Genetic Dissection of Complex Traits in a Founder Population |
|
|
|
|
|
|
|
|
|
| The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV |
|
|
|
|
|
|
|
|
|
| Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome |
|
|
|
|
|
|
|
|
|
| Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 |
|
|
|
|
|
|
|
|
|
| Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21 |
|
|
|
|
|
|
|
|
|
| Analysis of the Prostate Cancer–Susceptibility Locus HPC20 in 172 Families Affected by Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Linkage and Association Analysis of Angiotensin I–Converting Enzyme (ACE)–Gene Polymorphisms with ACE Concentration and Blood Pressure |
|
|
|
|
|
|
|
|
|
| Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study |
|
|
|
|
|
|
|
|
|
| Inadequate Use of Molecular Hybridization to Analyze DNA in Neanderthal Fossils |
|
|
|
|
|
|
|
|
|
| Problems in the Definition, Interpretation, and Evaluation of Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects |
|
|
|
|
|
|
|
|
|
| Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β (TCRB) Locus |
|
|
|
|
|
|
|
|
|
| A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16 |
|
|
|
|
|
|
|
|
|
| Reply to Mergenthaler et al. |
|
|
|
|
|
|
|
|
|
| Worldwide Genetic Analysis of the CFTR Region |
|
|
|
|
|
|
|
|
|
| Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1 |
|
|
|
|
|
|
|
|
|
| Reply to Zhang et al. |
|
|
|
|
|
|
|
|
|
| Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis |
|
|
|
|
|
|
|
|
|
| Identification of the Gene for Oral-Facial-Digital Type I Syndrome |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| Demethylation, Reactivation, and Destabilization of Human Fragile X Full-Mutation Alleles in Mouse Embryocarcinoma Cells |
|
|
|
|
|
|
|
|
|
| mtDNA and the Islands of the North Atlantic: Estimating the Proportions of Norse and Gaelic Ancestry |
|
|
|
|
|
|
|
|
|
| Limitations of Chromosome Classification by Multicolor Karyotyping |
|
|
|
|
|
|
|
|
|
| Genomic Divergences between Humans and Other Hominoids and the Effective Population Size of the Common Ancestor of Humans and Chimpanzees |
|
|
|
|
|
|
|
|
|
| Somatic Mosaicism in Hemophilia A: A Fairly Common Event |
|
|
|
|
|
|
|
|
|
| Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33 |
|
|
|
|
|
|
|
|
|
| A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases |
|
|
|
|
|
|
|
|
|
| Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway |
|
|
|
|
|
|
|
|
|
| Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Identification of TSIX, Encoding an RNA Antisense to Human XIST, Reveals Differences from its Murine Counterpart: Implications for X Inactivation |
|
|
|
|
|
|
|
|
|
| Phylogenetic and Familial Estimates of Mitochondrial Substitution Rates: Study of Control Region Mutations in Deep-Rooting Pedigrees |
|
|
|
|
|
|
|
|
|
| Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs |
|
|
|
|
|
|
|
|
|
| Equivalence between Haseman-Elston and Variance-Components Linkage Analyses for Sib Pairs |
|
|
|
|
|
|
|
|
|
| Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes |
|
|
|
|
|
|
|
|
|
| Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel |
|
|
|
|
|
|
|
|
|
| Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3 |
|
|
|
|
|
|
|
|
|
| Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2 |
|
|
|
|
|
|
|
|
|
| Precise Estimation of Allele Frequencies of Single-Nucleotide Polymorphisms by a Quantitative SSCP Analysis of Pooled DNA |
|
|
|
|
|
|
|
|
|
| Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1 |
|
|
|
|
|
|
|
|
|
| Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III |
|
|
|
|
|
|
|
|
|
| A Confidence-Set Approach for Finding Tightly Linked Genomic Regions |
|
|
|
|
|
|
|
|
|
| X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome |
|
|
|
|
|
|
|
|
|
| A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region |
|
|
|
|
|
|
|
|
|
| Optimized Group Sequential Study Designs for Tests of Genetic Linkage and Association in Complex Diseases |
|
|
|
|
|
|
|
|
|
| Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jews; Non–Puerto Rican |
| Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia |
|
|
|
|
|
|
|
|
|
| Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families |
|
|
|
|
|
|
|
|
|
| Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Quantitative Similarity-Based Association Tests Using Population Samples |
|
|
|
|
|
|
|
|
|
| Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions |
|
|
|
|
|
|
|
|
|
| A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36 |
|
|
|
|
|
|
|
|
|
| Melanocortin-1 Receptor Gene Variants Determine the Risk of Nonmelanoma Skin Cancer Independently of Fair Skin and Red Hair |
|
|
|
|
|
|
|
|
|
| A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda |
|
|
|
|
|
|
|
|
|
| Lower-Than-Expected Linkage Disequilibrium between Tightly Linked Markers in Humans Suggests a Role for Gene Conversion |
|
|
|
|
|
|
|
|
|
| AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation |
|
|
|
|
|
|
|
|
|
| Genetics and Analysis of Quantitative Traits |
|
|
|
|
|
|
|
|
|
| Frequency of XY Sperm Increases with Age in Fathers of Boys with Klinefelter Syndrome |
|
|
|
|
|
|
|
|
|
| Excess of Twins among Affected Sibling Pairs with Autism: Implications for the Etiology of Autism |
|
|
|
|
|
|
|
|
|
| Are Rare Variants Responsible for Susceptibility to Complex Diseases? |
|
|
|
|
|
|
|
|
|
| Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 |
|
|
|
|
|
|
|
|
|
| Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms |
|
|
|
|
|
|
|
|
|
| Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease |
|
|
|
|
|
|
|
|
|
| Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3 |
|
|
|
|
|
|
|
|
|
| MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss |
|
|
|
|
|
|
|
|
|
| Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes* |
|
|
|
|
|
|
|
|
|
| Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism |
|
|
|
|
|
|
|
|
|
| PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| 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, Emory Unive |
|
|
|
|
|
|
|
|
|
| Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci |
|
|
|
|
|
|
|
|
|
| Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum |
|
|
|
|
|
|
|
|
|
| Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23 |
|
|
|
|
|
|
|
|
|
| MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin |
|
|
|
|
|
|
|
|
|
| Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively |
|
|
|
|
|
|
|
|
|
| Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and P300 Findings in a Family |
|
|
|
|
|
|
|
|
|
| Segregation Analyses of 1,476 Population-Based Australian Families Affected by Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Single-Amino-Acid Deletion in the RYR1 Gene, Associated with Malignant Hyperthermia Susceptibility and Unusual Contraction Phenotype |
|
|
|
|
|
|
|
|
|
| MC1R Genotype Modifies Risk of Melanoma in Families Segregating CDKN2A Mutations |
|
|
|
|
|
|
|
|
|
| Resetting our Educational Sights: Unconstructing the Public's Dreams and Nightmares of the Genetic Revolution* |
|
|
|
|
|
|
|
|
|
| Examinations of Methylenetetrahydrofolate Reductase C677T and A1298C Mutations—and In Utero Viability |
|
|
|
|
|
|
|
|
|
| Estimation of Sibling Recurrence-Risk Ratio under Single Ascertainment in Two-Child Families |
|
|
|
|
|
|
|
|
|
| Heteroplasmy of the Human mtDNA Control Region Remains Constant during Life |
|
|
|
|
|
|
|
|
|
| Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency |
|
|
|
|
|
|
|
|
|
| Reply to Wickramaratne and Hodge |
|
|
|
|
|
|
|
|
|
| Regression Models for Linkage Heterogeneity Applied to Familial Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families with Melanoma |
|
|
|
|
|
|
|
|
|
| Archaeogenetics: DNA and the Population Prehistory of Europe |
|
|
|
|
|
|
|
|
|
| Hereditary Sensory Neuropathy Type I: Haplotype Analysis Shows Founders in Southern England and Europe |
|
|
|
|
|
|
|
|
|
| Gene Conversion and Different Population Histories May Explain the Contrast between Polymorphism and Linkage Disequilibrium Levels |
|
|
|
|
|
|
|
|
|
| Variation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers |
|
|
|
|
|
|
|
|
|
| Wild-Type Huntingtin Reduces the Cellular Toxicity of Mutant Huntingtin In Vivo |
|
|
|
|
|
|
|
|
|
| Is Breast Cancer Part of the Tumor Spectrum of Hereditary Nonpolyposis Colorectal Cancer? |
|
|
|
|
|
|
|
|
|
| Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1 |
|
|
|
|
|
|
|
|
|
| Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 |
|
|
|
|
|
|
|
|
|
| The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region |
|
|
|
|
|
|
|
|
|
| Global Analysis of ATM Polymorphism Reveals Significant Functional Constraint |
|
|
|
|
|
|
|
|
|
| A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity |
|
|
|
|
|
|
|
|
|
| A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3 |
|
|
|
|
|
|
|
|
|
| Principles of Molecular Oncology |
|
|
|
|
|
|
|
|
|
| Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group |
|
|
|
|
|
|
|
|
|
| Genomewide Scans of Complex Human Diseases: True Linkage Is Hard to Find |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK |
|
|
|
|
|
|
|
|
|
| Many Roads Lead to a Broken Heart: The Genetics of Dilated Cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations |
|
|
|
|
|
|
|
|
|
| Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine |
|
|
|
|
|
|
|
|
|
| Functional Complementation of a Genetic Deficiency with Human Artificial Chromosomes |
|
|
|
|
|
|
|
|
|
| Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice |
|
|
|
|
|
|
|
|
|
| Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) |
|
|
|
|
|
|
|
|
|
| Independent Histories of Human Y Chromosomes from Melanesia and Australia |
|
|
|
|
|
|
|
|
|
| In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified |
|
|
|
|
|
|
|
|
|
| Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkena |
|
|
|
|
|
|
|
|
|
| The D13S171 Marker, Misannotated to BRCA2, Links the AS3 Gene to Various Cancers |
|
|
|
|
|
|
|
|
|
| A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 |
|
|
|
|
|
|
|
|
|
| Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases |
|
|
|
|
|
|
|
|
|
| The Amyloid Precursor Protein Locus and Very-Late-Onset Alzheimer Disease |
|
|
|
|
|
|
|
|
|
| Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2 |
|
|
|
|
|
|
|
|
|
| Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chr |
|
|
|
|
|
|
|
|
|
| Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia |
|
|
|
|
|
|
|
|
|
| A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania |
|
|
|
|
|
|
|
|
|
| Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements |
|
|
|
|
|
|
|
|
|
| The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda |
|
|
|
|
|
|
|
|
|
| De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy |
|
|
|
|
|
|
|
|
|
| Unusual Haplotypic Structure of IL8, a Susceptibility Locus for a Common Respiratory Virus |
|
|
|
|
|
|
|
|
|
| A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease |
|
|
|
|
|
|
|
|
|
| Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4 |
|
|
|
|
|
|
|
|
|
| A Mutation, in the Iron-Responsive Element of H Ferritin mRNA, Causing Autosomal Dominant Iron Overload |
|
|
|
|
|
|
|
|
|
| A Genome Scan for Renal Function among Hypertensives: the HyperGEN Study |
|
|
|
|
|
|
|
|
|
| A Transmission/Disequilibrium Test That Allows for Genotyping Errors in the Analysis of Single-Nucleotide Polymorphism Data |
|
|
|
|
|
|
|
|
|
| Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions |
|
|
|
|
|
|
|
|
|
| Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| Reply to Volcik et al. |
|
|
|
|
|
|
|
|
|
| Analysis of European mtDNAs for Recombination |
|
|
|
|
✓ |
|
|
|
European mtDNAs |
| Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition |
|
|
|
|
|
|
|
|
|
| Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3 |
|
|
|
|
|
|
|
|
|
| The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32 |
|
|
|
|
|
|
|
|
|
| High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency) |
|
|
|
|
|
|
|
|
|
| A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease |
|
|
|
|
|
|
|
|
|
| Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphy |
|
|
|
|
|
|
✓ |
|
British patients |
| Erratum |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Founder Mutations of BRCA1 and BRCA2 in North American Families of Polish Origin That Are Affected with Breast Cancer |
|
|
|
|
|
|
|
|
|
| Transformation of Sib-Pair Values for the Haseman-Elston Method |
|
|
|
|
|
|
|
|
|
| Cracking the Genome: Inside the Race to Unlock Human DNA |
|
|
|
|
|
|
|
|
|
| Introductory Speech for F. Clarke Fraser* |
|
|
|
|
|
|
|
|
|
| Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria |
|
|
|
|
|
|
|
|
|
| The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression |
|
|
|
|
|
|
|
|
|
| High-Resolution Multipoint Linkage-Disequilibrium Mapping in the Context of a Human Genome Sequence |
|
|
|
|
|
|
|
|
|
| A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p |
|
|
|
|
|
|
|
|
|
| Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction |
|
|
|
|
|
|
|
|
|
| Advances in Twin and Sib-Pair Analysis. |
|
|
|
|
|
|
|
|
|
| Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome |
|
|
|
|
|
|
|
|
|