| 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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| Erratum |
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| Erratum |
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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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| 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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| 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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| 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 |
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| Employment Opportunities; Conference |
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| Erratum |
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| Employment Opportunities; Course; Meetings; Fellowship Opportunity |
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| Erratum |
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| Erratum |
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| Employment Opportunities; Meeting; Conference |
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| Contents of Volume 70 |
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| Erratum |
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| Erratum |
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| Genomic Screening of Fibroblast Growth‐Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis |
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| Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in<i>CIAS1</i>, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes |
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| Response to Visscher |
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| Erratum |
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| Erratum |
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| Erratum |
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| Employment Opportunities; Meeting; Request for Proposals |
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| Erratum |
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| Mapping Human History: Discovering the Past through Our Genes |
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| Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans |
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✓ |
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Africans and Non-Africans |
| A Highly Significant Association between a COMT Haplotype and Schizophrenia |
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| Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome |
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| Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and Prostate Cancer |
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| The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization |
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| A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis |
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| Regarding “Testing for Population Subdivision and Association in Four Case-Control Studies” |
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| RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility |
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| 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH |
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| The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies |
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| Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia |
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| myotilin Mutation Found in Second Pedigree with LGMD1A |
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| Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency |
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| Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting |
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| Multiplex Relative Risk and Estimation of the Number of Loci Underlying an Inherited Disease |
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| Editorial Reviewers for 2002 |
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| The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population |
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Ashkenazi Jewish population |
| Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function |
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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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| A Biologist’s Guide to Analysis of DNA Microarray Data |
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| Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) |
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| Power and Design Considerations for a General Class of Family-Based Association Tests: Quantitative Traits |
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| Haplotype Block Structure and Its Applications to Association Studies: Power and Study Designs |
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| This Month in the Journal |
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| Erratum |
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| Parental Origin and Timing of De Novo Robertsonian Translocation Formation |
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| Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome |
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| Direct Detection of Insertion/Deletion Polymorphisms in an Autosomal Region by Analyzing High-Density Markers in Individual Spermatozoa |
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| Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 |
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| The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations |
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| In Search of Geographical Patterns in European Mitochondrial DNA |
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✓ |
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European (in title: 'European Mitochondrial DNA') |
| Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome |
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| Genetic, Linguistic and Archaeological Perspectives on Human Diversity in Southeast Asia |
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| Upward Bias in Estimation of Genetic Effects |
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| Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family |
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| Genomewide Linkage Analysis of Body Mass Index across 28 Years of the Framingham Heart Study |
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| Griscelli Syndrome Types 1 and 2 |
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| Family-Based Association Tests Incorporating Parental Genotypes |
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| Regarding “Parental Genotypes in the Risk of a Complex Disease” |
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| Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia? |
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| Partition-Ligation–Expectation-Maximization Algorithm for Haplotype Inference with Single-Nucleotide Polymorphisms |
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| Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy |
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| A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10) |
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| Erratum |
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| A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q |
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| A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor f |
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| The DNA-Based Structure of Human Chromosome 5 in Interphase |
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| Alcohol Dehydrogenase and Alcohol Dependence: Variation in Genotype-Associated Risk between Populations |
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| A Major Susceptibility Locus for Systemic Lupus Erythemathosus Maps to Chromosome 1q31 |
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| Using All Alleles in the Multiallelic Versions of the SDT and Combined SDT/TDT |
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| Detecting Polymorphisms and Mutations in Candidate Genes |
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| Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2 |
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| The Making of the African mtDNA Landscape |
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| A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution |
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| Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia |
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| The Fingerprint of Phantom Mutations in Mitochondrial DNA Data |
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| Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: The Interplay of Population History, Recombination, and Mutation |
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| This Month in the Journal |
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| Evaluating the Results of Genomewide Linkage Scans of Complex Traits by Locus Counting |
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| RNA Binding Proteins: New Concepts in Gene Regulation |
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| Reply to Ménasché et al. |
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| Reply to Comments by Kraft and Wilson and by Weinberg and Mitchell on “Parental Genotypes in the Risk of a Complex Disease” |
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| Maternal Genetic Effects, Exerted by Genes Involved in Homocysteine Remethylation, Influence the Risk of Spina Bifida |
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| Reply to Whitfield |
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| Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD |
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| Haplotype Inference in Random Population Samples |
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| Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly |
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| Increased Rate of Twins among Affected Sib Pairs |
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| Genetic Linkage of Attention-Deficit/Hyperactivity Disorder on Chromosome 16p13, in a Region Implicated in Autism |
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| A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27 |
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| A Novel Founder Mutation in the RNASEL Gene, 471delAAAG, Is Associated with Prostate Cancer in Ashkenazi Jews |
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✓ |
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Ashkenazi Jews |
| 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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| SPINK1 Is a Susceptibility Gene for Fibrocalculous Pancreatic Diabetes in Subjects from the Indian Subcontinent |
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| On the Twin Risk in Autism |
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| Quantitative Trait Loci: Methods and Protocols |
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| Human Diallelic Insertion/Deletion Polymorphisms |
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| Predictors of the Risk of Mortality in Neurofibromatosis 2 |
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| Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies |
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| Neocentromeres: Role in Human Disease, Evolution, and Centromere Study |
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| GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L |
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| Caution on Pedigree Haplotype Inference with Software That Assumes Linkage Equilibrium |
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| This Month in the Journal |
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| Response to Visscher |
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| Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia |
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| The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 |
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| Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure |
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| Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome |
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| High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex |
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| Erratum |
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| Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase |
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| Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations |
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| Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females |
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| Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins |
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| A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search |
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| Mutations in ANKH Cause Chondrocalcinosis |
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| Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH |
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| Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4-CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex |
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| Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12 |
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| Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients |
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| Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine |
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| A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease |
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| What it Means to Be 98% Chimpanzee: Apes, People, and Their Genes |
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| Neuregulin 1 and Susceptibility to Schizophrenia |
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| A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 |
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| Mutation Patterns at Dinucleotide Microsatellite Loci in Humans |
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| Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1 |
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| Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese |
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| Evidence of Genetic Interaction between the β-Globin Complex and Chromosome 8q in the Expression of Fetal Hemoglobin |
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| Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31 |
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| A Quantitative-Trait Locus in the Human Factor XII Gene Influences Both Plasma Factor XII Levels and Susceptibility to Thrombotic Disease |
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| Erratum |
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| Genomewide Scan of Hoarding in Sib Pairs in Which Both Sibs Have Gilles de la Tourette Syndrome |
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| A Polymorphism in the β1 Adrenergic Receptor Is Associated with Resting Heart Rate |
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| The Structure of Diversity within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America |
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| Erratum |
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| Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder |
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| Protecting Subjects' Interests in Genetics Research |
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| Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled |
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| X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28 |
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| A Genomewide Scan for Loci Involved in Attention-Deficit/Hyperactivity Disorder |
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| Generalized T2 Test for Genome Association Studies |
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| Evidence for Linkage and Association with Reading Disability, on 6p21.3-22 |
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| Genetic Evidence for the Expansion of Arabian Tribes into the Southern Levant and North Africa |
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| This Month in the Journal |
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| PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity |
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| A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa |
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| BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance |
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| A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica |
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| Erratum |
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| Presence of Large Deletions in Kindreds with Autism |
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| Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A |
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| Testing for Population Subdivision and Association in Four Case-Control Studies |
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| A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer |
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| Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families |
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| Regression-Based Quantitative-Trait–Locus Mapping in the 21st Century |
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| Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects |
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| A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation |
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| A Susceptibility Locus for Migraine with Aura, on Chromosome 4q24 |
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| Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene |
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| Fine-Scale Mapping of Disease Loci via Shattered Coalescent Modeling of Genealogies |
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| Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse |
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| Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype |
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| CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease |
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| A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 |
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| Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome |
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| Ascertainment-Adjusted Parameter Estimates Revisited |
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| Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition |
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| An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 |
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| A New Susceptibility Locus for Autosomal Dominant Pancreatic Cancer Maps to Chromosome 4q32-34 |
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| Quantitative-Trait Homozygosity and Association Mapping and Empirical Genomewide Significance in Large, Complex Pedigrees: Fasting Serum-Insulin Level in the Hutterites |
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| A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents |
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| PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study |
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| Y-Chromosomal DNA Variation in Pakistan |
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| Geographic and Haplotype Structure of Candidate Type 2 Diabetes-Susceptibility Variants at the Calpain-10 Locus |
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| Genetic Dissection of the Human Leukocyte Antigen Region by Use of Haplotypes of Tasmanians with Multiple Sclerosis |
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| Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups |
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✓ |
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European |
| A Genomewide Linkage Scan for Quantitative-Trait Loci for Obesity Phenotypes |
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| Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60 |
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| Protean PTEN: Form and Function |
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| This Month in the Journal |
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| The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder |
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| A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes |
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| Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot |
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| A Combined Analysis of Genomewide Linkage Scans for Body Mass Index, from the National Heart, Lung, and Blood Institute Family Blood Pressure Program |
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| Genomic Disorders on 22q11 |
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| ERRATUM |
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| Reply to Tarazona-Santos and Santos |
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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, Department |
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| Systematic Evaluation of Map Quality: Human Chromosome 22 |
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| Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy |
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| Founding Mothers of Jewish Communities: Geographically Separated Jewish Groups Were Independently Founded by Very Few Female Ancestors |
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| The Gene Encoding Nicastrin, a Major γ-Secretase Component, Modifies Risk for Familial Early-Onset Alzheimer Disease in a Dutch Population-Based Sample |
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| Genomewide Comparison of DNA Sequences between Humans and Chimpanzees |
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| The Power of Multivariate Quantitative-Trait Loci Linkage Analysis Is Influenced by the Correlation between Variables |
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| Genetic Dissection of Complex Traits |
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| A Second Locus for Very-Late-Onset Alzheimer Disease: A Genome Scan Reveals Linkage to 20p and Epistasis between 20p and the Amyloid Precursor Protein Region |
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| Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects |
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| Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q |
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| CARD15 Genetic Variation in a Quebec Population: Prevalence, Genotype-Phenotype Relationship, and Haplotype Structure |
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| Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome |
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| Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes |
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| This Month in the Journal |
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| CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness |
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| Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes |
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| A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3 |
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| Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping |
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| Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I |
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| Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia |
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| Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization |
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| Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting |
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| Association between Single-Nucleotide Polymorphisms in Selectin Genes and Immunoglobulin A Nephropathy |
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| A Genomewide Linkage Screen for Relative Hand Skill in Sibling Pairs |
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| Extensive Linkage Disequilibrium in Small Human Populations in Eurasia |
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| Association of Polymorphisms in the Apolipoprotein E Region with Susceptibility to and Progression of Multiple Sclerosis |
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| A Variation in 3′ UTR of hPTP1B Increases Specific Gene Expression and Associates with Insulin Resistance |
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| Bias in Estimates of Quantitative-Trait–Locus Effect in Genome Scans: Demonstration of the Phenomenon and a Method-of-Moments Procedure for Reducing Bias |
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| Ethnic-Difference Markers for Use in Mapping by Admixture Linkage Disequilibrium |
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| Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot |
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| Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”) |
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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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| Evolutionary Fate of an Unstable Human Minisatellite Deduced from Sperm-Mutation Spectra of Individual Alleles |
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| X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15 |
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| A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1 |
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| Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15– |
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| The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin |
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| FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment |
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| Genome Scans Provide Evidence for Low-HDL-C Loci on Chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish Families |
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| Revised 14.7-cM Locus for the Hyperparathyroidism–Jaw Tumor Syndrome Gene, HRPT2 |
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| Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 |
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| A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family |
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✓ |
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Iraqi Jewish |
| 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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| Minimum-Recombinant Haplotyping in Pedigrees |
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| A Major Predisposition Locus for Severe Obesity, at 4p15-p14 |
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| Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone |
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| Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene |
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| New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes |
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| Power Calculations for Genetic Association Studies Using Estimated Probability Distributions |
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| Stable Variants of Sperm Aneuploidy among Healthy Men Show Associations between Germinal and Somatic Aneuploidy |
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| Paternally Transmitted FMR1 Alleles Are Less Stable than Maternally Transmitted Alleles in the Common and Intermediate Size Range |
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| The National Institutes of Health Announces Online Availability of “Points to Consider When Planning a Genetic Study That Involves Members of Named Populations” |
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| A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21 |
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| Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders |
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| Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci |
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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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| Erratum |
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| A Global Perspective on Genetic Variation at the ADH Genes Reveals Unusual Patterns of Linkage Disequilibrium and Diversity |
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| Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1 |
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| Parental Genotypes in the Risk of a Complex Disease |
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| Splitting p63 |
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| Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes |
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| Genetic Isolates in East Asia: A Study of Linkage Disequilibrium in the X Chromosome |
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| Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation |
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| This Month in the Journal |
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| Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17 |
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| Erratum |
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| This Month in the Journal |
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| The Frequent 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphism Is Associated with a Common Haplotype in Whites, Japanese, and Africans |
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✓ |
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Japanese, Africans |
| CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle |
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| Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects |
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| Evidence for a Susceptibility Gene for Anorexia Nervosa on Chromosome 1 |
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| Localization of a Susceptibility Gene for Common Forms of Stroke to 5q12 |
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| A Polymorphism in the Human UGRP1 Gene Promoter That Regulates Transcription Is Associated with an Increased Risk of Asthma |
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| Sibling Recurrence Risk Ratio as a Measure of Genetic Effect: Caveat Emptor! |
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| Individual-Specific Liability Groups in Genetic Linkage, with Applications to Kindreds with Li-Fraumeni Syndrome |
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| Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer Treated with Potentially Mutagenic Therapies |
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| Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population |
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✓ |
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American Ashkenazi Jewish Population |
| Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis |
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✓ |
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Eurasians |
| A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome |
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| This Month in the Journal |
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| Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 |
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| Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome |
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| Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations |
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| Genomewide Linkage Analysis of Quantitative Spirometric Phenotypes in Severe Early-Onset Chronic Obstructive Pulmonary Disease |
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| Increased Rate of Twins among Affected Sibling Pairs with Autism |
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| The Peopling of the Americas: A Second Major Migration? |
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| Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia |
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| High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization |
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| Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 Mutation: Potential Impact of CNTF as a Candidate Modifier Gene |
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| PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats |
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| Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer |
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| Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation |
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| Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome |
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| Refined Mapping of Suggestive Linkage to Renal Function in African Americans: The HyperGEN Study |
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✓ |
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African Americans |
| Patterns of Meiotic Recombination in Human Fetal Oocytes |
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| SMN Dosage Analysis and Risk Assessment for Spinal Muscular Atrophy |
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| Reply to Ogino and Wilson |
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| Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders |
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| A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution |
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| Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein |
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| Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome |
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| Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency |
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| Reply to Kock et al. |
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| Analysis of the RNASEL Gene in Familial and Sporadic Prostate Cancer |
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| Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations |
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| Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain |
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| A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 Gene |
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| Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L |
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| Mitochondrial Genome Diversity of Native Americans Supports a Single Early Entry of Founder Populations into America |
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✓ |
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Native Americans |
| A Note on the Calculation of Empirical P Values from Monte Carlo Procedures |
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| Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene |
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| Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees |
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| Species Differences in TSIX/Tsix Reveal the Roles of These Genes in X-Chromosome Inactivation |
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| Response to Epstein et al. |
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| A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements |
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| Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia |
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| SNPs at the 3′ End of the Angiotensinogen Gene Define Two Haplotypes Associated with the Common 235Met Variant |
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| Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia |
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| Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C |
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| Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate |
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| Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits |
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| Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan |
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| A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia |
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| Erratum |
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| Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations |
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| Theoretical Considerations Regarding the Study “Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans” |
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| Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism |
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| Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism–Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus |
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| Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin |
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| Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome |
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| This Month in the Journal |
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| The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation |
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| The Brain-Derived Neurotrophic Factor Gene Confers Susceptibility to Bipolar Disorder: Evidence from a Family-Based Association Study |
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| Dissecting the Genetic Complexity of the Association between Human Leukocyte Antigens and Rheumatoid Arthritis |
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| Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin* |
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| BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping |
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| A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24 |
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| Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype |
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| DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 Gene: Implications for Human Population History and Natural Selection |
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| Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus |
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| Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene |
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| KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes |
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| Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome |
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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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| Disorders of Voluntary Muscle |
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| Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome T |
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| Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus |
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| Reply to Veromann |
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| Major Recessive Gene(s) with Considerable Residual Polygenic Effect Regulating Adult Height: Confirmation of Genomewide Scan Results for Chromosomes 6, 9, and 12 |
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| London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM |
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| A Unified Stepwise Regression Procedure for Evaluating the Relative Effects of Polymorphisms within a Gene Using Case/Control or Family Data: Application to HLA in Type 1 Diabetes |
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| Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes |
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| Erratum |
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| Gene-Gene Interaction in Asthma: IL4RA and IL13 in a Dutch Population with Asthma |
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Dutch population |
| Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous |
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| Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies |
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| A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q |
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| Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy |
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| Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene |
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| Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22 |
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| Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis |
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| Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study |
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| Complex Signatures of Natural Selection at the Duffy Blood Group Locus |
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| Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse |
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| The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein |
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| A Perspective on Epistasis: Limits of Models Displaying No Main Effect |
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| Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively |
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| Reply to Hodge et al. |
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| Genomewide Linkage Analysis of Celiac Disease in Finnish Families |
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| HLODs Remain Powerful Tools for Detection of Linkage in the Presence of Genetic Heterogeneity |
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| A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes |
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| Bayesian Haplotype Inference for Multiple Linked Single-Nucleotide Polymorphisms |
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| This Month in the Journal |
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| A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait |
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| Statistics for Nonparametric Linkage Analysis of X-Linked Traits in General Pedigrees |
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| On Black Boxes and Storytellers: Lessons Learned in Human Genetics**Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 13, 2001. |
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| From Down Syndrome to the “Human” in “Human Genetics”**Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 15, 2001. |
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| Response to Allegations against James V. Neel in Darkness in El Dorado, by Patrick Tierney |
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| Likelihood Formulation of Parent-of-Origin Effects on Segregation Analysis, Including Ascertainment |
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| A Statistical Method for Identification of Polymorphisms That Explain a Linkage Result |
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| Relationship Inference from Trios of Individuals, in the Presence of Typing Error |
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| Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23 |
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| The Map Problem: A Comparison of Genetic and Sequence-Based Physical Maps |
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| Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs |
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| Genetics and Criminal Behavior |
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| Erratum |
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| … And Know the Place for the First Time**Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 16, 2001. |
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| Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds |
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| Gdnf Haploinsufficiency Causes Hirschsprung-Like Intestinal Obstruction and Early-Onset Lethality in Mice |
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| Evidence for a Language Quantitative Trait Locus on Chromosome 7q in Multiplex Autism Families |
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| Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency |
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| Detection and Integration of Genotyping Errors in Statistical Genetics |
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| Nucleotide Diversity and Haplotype Structure of the Human Angiotensinogen Gene in Two Populations |
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| Molecular Analysis of the β-Globin Gene Cluster in the Niokholo Mandenka Population Reveals a Recent Origin of the βS Senegal Mutation |
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| Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified? |
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| Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant |
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| Chromosome-12 Mapping of Late-Onset Alzheimer Disease among Caribbean Hispanics |
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| Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny |
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| The Dual Origin and Siberian Affinities of Native American Y Chromosomes |
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| Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data |
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| A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly |
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| Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus |
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| Introductory Speech for Charles J. Epstein**Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 15, 2001. |
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| Introductory Speech for Charles Scriver**Amended from the introduction previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 16, 2001. |
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| C→U Editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoprotein B mRNA–Editing Enzyme |
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| A Score-Statistic Approach for the Mapping of Quantitative-Trait Loci with Sibships of Arbitrary Size |
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| This Month in the Journal |
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| Genomewide Search for Type 2 Diabetes Mellitus Susceptibility Loci in Finnish Families: The Botnia Study |
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| A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians |
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| A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment**Members of the consortium are listed in the Appendix. |
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