| Erratum |
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| Subject Index for Volume 64 |
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| Author Index for Volume 60 |
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| Contents of Volume 64 |
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| Relationship Estimation by Markov-Process Models in a Sib-Pair Linkage Study |
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| Errata |
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| Editorial Reviewers for 1999 |
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| Erratum |
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| Erratum |
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| Errata |
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| Errata |
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| Errata |
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| Errata |
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| Errata |
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| Subject Index for Volume 65 |
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| Author Index for Volume 64 |
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| Subject Index for Volume 64 |
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| Author Index for Volume 65 |
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| Gene Localization for Aculeiform Cataract, on Chromosome 2q33‐35 |
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| Errata |
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| Errata |
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| Contents of Volume 65 |
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| Contents of Volume 64 |
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| On the Assessment of Statistical Significance in Disease-Gene Discovery |
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| This Month in the Journal |
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| The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease |
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✓ |
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Western European Population |
| Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia |
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| The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer |
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| Combined Linkage and Association Sib-Pair Analysis for Quantitative Traits |
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| Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes |
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| Myotonic Dystrophy: The Role of RNA CUG Triplet Repeats |
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| mtDNA Analysis of Nile River Valley Populations: A Genetic Corridor or a Barrier to Migration? |
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| Unlinking Tumor Necrosis Factor Biology from the Major Histocompatibility Complex: Lessons from Human Genetics and Animal Models |
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| The Bare Lymphocyte Syndrome: Molecular Clues to the Transcriptional Regulation of Major Histocompatibility Complex Class II Genes |
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| Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1 |
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| Functional and Structural Brain Abnormalities Associated with a Genetic Disorder of Speech and Language |
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| The Role of Community Review in Evaluating the Risks of Human Genetic Variation Research |
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| Monoamine Oxidase in Neuropsychiatry and Behavior |
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| A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene |
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| Severe Hepatic Fibrosis in Schistosoma mansoni Infection Is Controlled by a Major Locus That Is Closely Linked to the Interferon-γ Receptor Gene |
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| Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1 |
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| Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome |
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| Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4 |
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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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| An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis |
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| A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to [email protected] or by fax to |
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| Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease |
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| Juvenile Hemochromatosis Locus Maps to Chromosome 1q |
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| Connexin46 Mutations in Autosomal Dominant Congenital Cataract |
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| This Month in the Journal |
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| Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 |
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| Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age |
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| Mice and the Role of Unequal Recombination in Gene-Family Evolution |
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| Evidence for Effective Suppression of Recombination in the Chromosome 17q21 Segment Spanning RNU2–BRCA1 |
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| Refinement of the Chromosome 5p Locus for Familial Calcium Pyrophosphate Dihydrate Deposition Disease |
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| An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy |
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| Identifying Families with Likely Genetic Protective Factors against Alzheimer Disease |
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| Errata |
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| Editorial Reviewers for 1999 |
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| Mosaicism and Sporadic Familial Adenomatous Polyposis |
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| Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom |
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| Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation |
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| Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences |
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| The Size Distribution of Homozygous Segments in the Human Genome |
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| Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia |
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| Function and Dysfunction of the Presenilins |
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| Transcription Factors and Human Disease. |
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| Specificity in Transforming Growth Factor–β Signaling Pathways |
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| This Month in the Journal |
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| Poly(ADP-Ribose) Polymerase in the Cellular Response to DNA Damage, Apoptosis, and Disease |
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| X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats |
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| Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder |
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| Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes |
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| Reply to Niermeijer |
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| Organelle Diseases |
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| A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction |
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| A Genomewide Analysis Provides Evidence for Novel Linkages in Inflammatory Bowel Disease in a Large European Cohort |
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✓ |
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European cohort |
| An mtDNA Analysis in Ancient Basque Populations: Implications for Haplogroup V as a Marker for a Major Paleolithic Expansion from Southwestern Europe |
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Southwestern Europe |
| On a Randomization Procedure in Linkage Analysis |
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| Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26 |
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| Down-Weighting of Multiple Affected Sib Pairs Leads to Biased Likelihood-Ratio Tests, under the Assumption of No Linkage |
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| Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism |
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| Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance |
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| Allowing for Missing Parents in Genetic Studies of Case-Parent Triads |
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| Errata |
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| Genes, Demography, and Life Span: The Contribution of Demographic Data in Genetic Studies on Aging and Longevity |
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| A Generalization of the Transmission/Disequilibrium Test for Uncertain-Haplotype Transmission |
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| A Genome Scan for Familial Combined Hyperlipidemia Reveals Evidence of Linkage with a Locus on Chromosome 11 |
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| Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors |
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| The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome |
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| Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis |
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| Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene |
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| Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor |
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| Genetics of Angelman 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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| COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia |
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| Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1 |
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| Joint Multipoint Linkage Analysis of Multivariate Qualitative and Quantitative Traits. II. Alcoholism and Event-Related Potentials |
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| A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3 |
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| Biology of Aging: Observations and Principles, 2d ed. |
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| Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 |
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| Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 |
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| Identification of a Genetic Defect in the Hairless Gene in Atrichia with Papular Lesions: Evidence for Phenotypic Heterogeneity among Inherited Atrichias |
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| Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region |
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| Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia |
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| A Simulation Study of the Effects of Assignment of Prior Identity-by-Descent Probabilities to Unselected Sib Pairs, in Covariance-Structure Modeling of a Quantitative-Trait Locus |
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| Molecular Genetic Analysis of Remains of a 2,000-Year-Old Human Population in China—and Its Relevance for the Origin of the Modern Japanese Population |
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| A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 |
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| Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity |
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| A Novel Syndrome of Episodic Muscle Weakness Maps to Xp22.3 |
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| Direct Power Comparisons between Simple LOD Scores and NPL Scores for Linkage Analysis in Complex Diseases |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
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| The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs |
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✓ |
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West Eurasian |
| Evidence for Linkage of Adolescent-Onset Idiopathic Generalized Epilepsies to Chromosome 8—and Genetic Heterogeneity |
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| Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome |
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| A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 |
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| Evidence for Interaction between Psoriasis-Susceptibility Loci on Chromosomes 6p21 and 1q21 |
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| Are There Low-Penetrance TP53 Alleles? Evidence from Childhood Adrenocortical Tumors |
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| Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study |
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| A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans |
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| Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 |
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| The X Chromosome and Recurrent Spontaneous Abortion: The Significance of Transmanifesting Carriers |
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| A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32 |
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| Temperature-Sensitive RB Mutations Linked to Incomplete Penetrance of Familial Retinoblastoma in 12 Families |
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| Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia |
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| A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p21-22 |
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| Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene |
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| Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain |
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| p53 Variants Predisposing to Cancer Are Present in Healthy Centenarians |
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| Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation |
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| Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
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| Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations |
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| Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 |
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| A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31 |
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| Transmission of a Fully Functional Human Neocentromere through Three Generations |
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| Repair of mtDNA in Vertebrates |
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| Homozygosity Mapping of the Achromatopsia Locus in the Pingelapese |
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| Methods for Detection of Parent-of-Origin Effects in Genetic Studies of Case-Parents Triads |
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| Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster |
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| Autosomal Dominant (Beukes) Premature Degenerative Osteoarthropathy of the Hip Joint Maps to an 11-cM Region on Chromosome 4q35 |
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| Extremely Skewed X-Chromosome Inactivation Is Increased in Women with Recurrent Spontaneous Abortion |
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| Professor Ching Chun Li, Courageous Scholar and Educator |
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| Erratum |
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| Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13 |
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| Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas |
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| Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia |
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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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| Immunoglobulin Class Switch Recombination: Will Genetics Provide New Clues to Mechanism? |
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| A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3 |
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| Penetrances of BRCA1 1675delA and 1135insA with Respect to Breast Cancer and Ovarian Cancer |
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| A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies) |
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✓ |
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Roma (Gypsies) |
| Mutation Rates in Humans. I. Overall and Sex-Specific Rates Obtained from a Population Study of Hemophilia B |
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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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| Biological Implications of the DNA Structures Associated with Disease-Causing Triplet Repeats |
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| Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa |
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| Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago |
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✓ |
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Ashkenazi Jewish; Spanish |
| Response to the Letters from Hopper and Jenkins and Foulkes et al. |
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| This Month in the Journal |
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| Evidence for the Genetic Heterogeneity of Nephropathic Phenotypes Associated with Denys-Drash and Frasier Syndromes |
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| A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness |
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| Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies |
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| EXT-Mutation Analysis and Loss of Heterozygosity in Sporadic and Hereditary Osteochondromas and Secondary Chondrosarcomas |
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| Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 Locus Is within a 0.7-cM Region on Chromosome 1q |
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| Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B |
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| The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p |
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| Mitochondrial Genetic Analyses Suggest Selection against Maternal Lineages in Bipolar Affective Disorder |
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| STAT5 Signaling in Sexually Dimorphic Gene Expression and Growth Patterns |
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| Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31 |
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| New Editor of The American Journal of Human Genetics |
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| The Contribution of Germline BRCA1 and BRCA2 Mutations to Familial Ovarian Cancer: No Evidence for Other Ovarian Cancer–Susceptibility Genes |
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| DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome |
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| Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11 |
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| Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR |
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| A Gene for Lymphedema-Distichiasis Maps to 16q24.3 |
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| The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness |
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| Imprinting-Mutation Mechanisms in Prader-Willi Syndrome |
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| Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis |
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| A New Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity |
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| Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes |
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| Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations |
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| p53 Codon 72 Polymorphism and Longevity: Additional Data on Centenarians from Continental Italy and Sardinia |
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| De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome |
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| Highly Skewed X-Chromosome Inactivation Is Associated with Idiopathic Recurrent Spontaneous Abortion |
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| Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein |
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| A Genomic Screen of Autism: Evidence for a Multilocus Etiology |
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| A Complete Genome Screen in Sib Pairs Affected by Gilles de la Tourette Syndrome |
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| Osteoarthritis-Susceptibility Locus on Chromosome 11q, Detected by Linkage |
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| mtDNA History of the Cayapa Amerinds of Ecuador: Detection of Additional Founding Lineages for the Native American Populations |
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| Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli |
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| Learning from the Slime Mold: Dictyostelium and Human Disease |
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| The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA Mutation |
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| Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity |
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| Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease |
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| Mutations of the TIGR/MYOC Gene in Primary Open-Angle Glaucoma in Korea |
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| Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity |
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| Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to [email protected] or by fax to |
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| New Editor of The American Journal of Human Genetics |
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| Erratum |
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| This Month in the Journal |
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| Further Evidence for the Increased Power of LOD Scores Compared with Nonparametric Methods |
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| Nitric Oxide in Endothelial Dysfunction and Vascular Remodeling: Clinical Correlates and Experimental Links |
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| Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency |
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| Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis |
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| A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy |
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| Stress-Response Proteins in Cardiovascular Disease |
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| Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay |
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| LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis |
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| Rhmod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene |
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| Multicentric Origin of Hemochromatosis Gene (HFE) Mutations |
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| The Mammalian Mre11-Rad50-Nbs1 Protein Complex: Integration of Functions in the Cellular DNA–Damage Response |
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| Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis |
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| The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27 |
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| Distribution of Two HIV-1–Resistant Polymorphisms (SDF1-3′A and CCR2-64I) in East Asian and World Populations and Its Implication in AIDS Epidemiology |
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✓ |
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East Asian; World Populations |
| Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 |
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| Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7 |
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| No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer |
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| Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25 |
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| Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Co |
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| Making Genomic Medicine a Reality |
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| Point and Interval Estimates of Marker Location in Radiation Hybrid Mapping |
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| Investigation of a Family with Autosomal Dominant Dilated Cardiomyopathy Defines a Novel Locus on Chromosome 2q14-q22 |
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| Chinese Geneticists Are Far from Eugenics Movement |
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| Remarks on Receiving the ASHG Award: Science and Science Education |
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| Transmitting Genetic Risk Information in Families: Attitudes about Disclosing the Identity of Relatives |
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| American Board of Medical Genetics and American Board of Genetic Counseling Diplomates |
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| Evidence That Mutations in the X-linked DDP Gene Cause Incompletely Penetrant and Variable Skewed X Inactivation |
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| Assessing the Feasibility of Linkage Disequilibrium Methods for Mapping Complex Traits: An Initial Screen for Bipolar Disorder Loci on Chromosome 18 |
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| Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes |
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| Localization of a Gene for Bitter-Taste Perception to Human Chromosome 5p15 |
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| Periventricular Heterotopia and the Genetics of Neuronal Migration in the Cerebral Cortex |
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| Genetic Studies of Alcoholism and Substance Dependence |
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| The Choice to Have a Disabled Child |
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| Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22 |
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No article text provided; only title given. |
| The Sex Ratio in Familial Persistent Stuttering |
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| Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11 |
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| New Editor of The American Journal of Human Genetics |
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| Erratum |
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| New Editor of The American Journal of Human Genetics |
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| High Rate of Mosaicism in Tuberous Sclerosis Complex |
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| Genomewide Transmission/Disequilibrium Testing: A Correction |
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| Accelerated Telomere Shortening in the Human Inactive X Chromosome |
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| Reply to Leder and Hodge |
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| The “Thermolabile” Variant of Methylenetetrahydrofolate Reductase and Neural Tube Defects: An Evaluation of Genetic Risk and the Relative Importance of the Genotypes of the Embryo and the Mother |
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| The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing |
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| Multiplex-FISH for Pre- and Postnatal Diagnostic Applications |
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| Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints |
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| Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site |
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| X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene |
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| Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome |
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| Sperm Chromosome Analysis in a Man Heterozygous for a Paracentric Inversion of Chromosome 14 (q24.1q32.1) |
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| IQ and Human Intelligence. |
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| Two Novel Single–Base-Pair Substitutions Adjacent to the CAG Repeat in the Huntington Disease Gene (IT15): Implications for Diagnostic Testing |
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| A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 |
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| MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications |
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✓ |
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Armenian |
| Outrageous Fortune: The Risk of Suicide in Genetic Testing for Huntington Disease |
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| Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? |
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| Psoriasis Linkage in the HLA Region |
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| Microglia and the Immune Pathology of Alzheimer Disease |
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| Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia |
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| Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism |
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| Kallmann Syndrome and the Link between Olfactory and Reproductive Development |
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| Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease |
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| Sequence Diversity in 36 Candidate Genes for Cardiovascular Disorders |
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| Genome Analysis: A Laboratory Manual (Vols. 1–4) |
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| Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin |
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✓ |
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Pakistani origin |
| Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 |
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| A Major Quantitative-Trait Locus for Mole Density Is Linked to the Familial Melanoma Gene CDKN2A: A Maximum-Likelihood Combined Linkage and Association Analysis in Twins and Their Sibs |
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| Errata |
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| The Genetic Basis for Periodic Fever |
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| Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1 |
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| Concerted Evolution: Molecular Mechanism and Biological Implications |
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| Age Estimates of Two Common Mutations Causing Factor XI Deficiency: Recent Genetic Drift Is Not Necessary for Elevated Disease Incidence among Ashkenazi Jews |
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✓ |
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Ashkenazi Jews |
| About the “Pathological” Role of the mtDNA T3308C Mutation… |
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| Interleukin-2 Signaling and Inherited Immunodeficiency |
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| Reply to Michie and Marteau |
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| An Extreme-Sib-Pair Genome Scan for Genes Regulating Blood Pressure |
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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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| Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p11.2-11.1 |
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| A Means to an End: The Biological Basis of Aging and Death. |
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| Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping |
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| Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome |
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| High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands |
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| Dominant Hereditary Inclusion-Body Myopathy Gene (IBM3) Maps to Chromosome Region 17p13.1 |
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| A New Locus for Autosomal Dominant Stargardt-Like Disease Maps to Chromosome 4 |
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| Human Mitochondrial Complex I in Health and Disease |
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| A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV |
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| Mapping of the Mucolipidosis Type IV Gene to Chromosome 19p and Definition of Founder Haplotypes |
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| Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene |
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| An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation? |
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| Power of Association and Linkage Tests When the Disease Alleles Are Unobserved |
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| The Transmission/Disequilibrium Test and Parental-Genotype Reconstruction: The Reconstruction-Combined Transmission/ Disequilibrium Test |
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| Combining the Sibling Disequilibrium Test and Transmission/Disequilibrium Test for Multiallelic Markers |
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| Linkage Detection Adaptive to Linkage Disequilibrium: The Disequilibrium Maximum-Likelihood–Binomial Test for Affected-Sibship Data |
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| Linkage of Inflammatory Bowel Disease to Human Chromosome 6p |
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| Germ-Cell Nondisjunction in Testes Biopsies of Men With Idiopathic Infertility |
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| Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12 |
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| Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum |
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| This Month in the Journal |
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| Reply to Henke and Henke |
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| Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA |
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| The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency |
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| Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1 |
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| Erratum |
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| Mutation Rate in Human Microsatellites |
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| Stratification Analysis of an Osteoarthritis Genome Screen—Suggestive Linkage to Chromosomes 4, 6, and 16 |
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| RB1 Gene Mutations in Peripheral Blood DNA of Patients with Isolated Unilateral Retinoblastoma |
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| Modeling the Probability That Ashkenazi Jewish Women Carry a Founder Mutation in BRCA1 or BRCA2 |
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| This Month in the Journal |
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| Pseudoautosomal Linkage of Hodgkin Disease |
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| Overgrowth Syndromes and the Regulation of Signaling Complexes by Proteoglycans |
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| A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family |
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| A Loss-of-Function Model for Cystogenesis in Human Autosomal Dominant Polycystic Kidney Disease Type 2 |
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| De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation |
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| A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation |
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| Gonadoblastoma, Testicular and Prostate Cancers, and the TSPY Gene |
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| A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease |
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| Prevalence of Bloom Syndrome Heterozygotes among Ashkenazi Jews |
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✓ |
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Ashkenazi Jews |
| Possible Interaction between USH1B and USH3 Gene Products as Implied by Apparent Digenic Deafness Inheritance |
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| HPS Gene Mutations in Hermansky-Pudlak Syndrome |
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| Genome Scan for Predisposing Loci for Distal Interphalangeal Joint Osteoarthritis: Evidence for a Locus on 2q |
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| Transfection of BLM into Cultured Bloom Syndrome Cells Reduces the Sister-Chromatid Exchange Rate toward Normal |
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| Analysis of Chromosome 1q42.2-43 in 152 Families with High Risk of Prostate Cancer |
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| Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene |
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| An Optimal Algorithm for Automatic Genotype Elimination |
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| This Month in the Journal |
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| A Parametric Copula Model for Analysis of Familial Binary Data |
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| A Novel NTRK1 Mutation Associated with Congenital Insensitivity to Pain with Anhidrosis |
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| Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation |
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| Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation |
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| Further Evidence for a Susceptibility Locus on Chromosome 20q13.11 in Families with Dominant Transmission of Graves Disease |
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| High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene |
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| A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation |
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| Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping |
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| Disequilibrium Mapping of a Quantitative-Trait Locus in an Expanding Population |
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| Cancer Genetics and Insurance |
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| Mathematical and Statistical Methods for Genetic Analysis |
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| The Gene for Cherubism Maps to Chromosome 4p16 |
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| Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease |
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| The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements |
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| Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots |
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| Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias |
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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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| Heterogeneous X Inactivation in Trophoblastic Cells of Human Full-Term Female Placentas |
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| Erratum |
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| Multiple ATM-Dependent Pathways: An Explanation for Pleiotropy |
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| Common Fragile Sites: G-Band Characteristics within an R-Band |
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| BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits |
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| Comparison of the Power and Accuracy of Biallelic and Microsatellite Markers in Population-Based Gene-Mapping Methods |
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| Finite-Sample Properties of Family-Based Association Tests |
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| A Test of Transmission/Disequilibrium for Quantitative Traits in Pedigree Data, by Multiple Regression |
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| The Challenges of Psychopharmacogenetics |
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| Errata |
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| Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3 |
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| Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34 |
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| Optimal Ascertainment Strategies to Detect Linkage to Common Disease Alleles |
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| Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q |
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| Linkage of Low-Density Lipoprotein Size to the Lipoprotein Lipase Gene in Heterozygous Lipoprotein Lipase Deficiency |
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| Congenital Motor Nystagmus Linked to Xq26-q27 |
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| Recurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism |
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| The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations |
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| A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 |
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| Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride |
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| DNA Transfer to Cultured Cells |
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| A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia |
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| DNA Sequence Variants of p53: Cancer and Aging |
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| The Genetic Epidemiology of Early-Onset Epithelial Ovarian Cancer: A Population-Based Study |
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| Inherited Colorectal Polyposis and Cancer Risk of the APC I1307K Polymorphism |
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| Germ-Line NF2 Mutations and Disease Severity in Neurofibromatosis Type 2 Patients with Retinal Abnormalities |
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| Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies |
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| Testing the Robustness of the Likelihood-Ratio Test in a Variance-Component Quantitative-Trait Loci–Mapping Procedure |
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| No Mutations in the Coding Region of the PRKCG Gene in Three Families with Retinitis Pigmentosa Linked to the RP11 Locus on Chromosome 19q |
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| Using Exact P Values to Compare the Power between the Reconstruction-Combined Transmission/Disequilibrium Test and the Sib Transmission/Disequilibrium Test |
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| The Prevalence of Common BRCA1 and BRCA2 Mutations among Ashkenazi Jews |
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✓ |
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Ashkenazi Jews |
| In Swedish Families with Hereditary Prostate Cancer, Linkage to the HPC1 Locus on Chromosome 1q24-25 Is Restricted to Families with Early-Onset Prostate Cancer |
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| Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN Gene |
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| The Predisposition to Type 1 Diabetes Linked to the Human Leukocyte Antigen Complex Includes at Least One Non–Class II Gene |
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| Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II |
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| Methylation Imprinting of H19 and SNRPN Genes in Human Benign Ovarian Teratomas |
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| Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 |
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| X Chromosome–Inactivation Patterns Confirm the Late Timing of Monoamniotic-MZ Twinning |
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| Localization of a Gene for Familial Patella Aplasia-Hypoplasia (PTLAH) to Chromosome 17q21–22 |
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| Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome |
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| Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy |
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✓ |
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Italian |
| Evidence for a Rare Prostate Cancer–Susceptibility Locus at Chromosome 1p36 |
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| Modification of BRCA1-Associated Breast Cancer Risk by the Polymorphic Androgen-Receptor CAG Repeat |
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| Interindividual Variation in Mitotic Recombination |
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| Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers |
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| A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant? |
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| Founder BRCA1/2 Mutations among Male Patients with Breast Cancer in Israel |
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| Reply to Sharpe |
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| The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment |
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| Genetic Linkage of IgA Deficiency to the Major Histocompatibility Complex: Evidence for Allele Segregation Distortion, Parent-of-Origin Penetrance Differences, and the Role of Anti-IgA Antibodies in D |
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| Interaction between the Functional Polymorphisms of the Alcohol-Metabolism Genes in Protection against Alcoholism |
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| Candidate-Gene Association Studies of Schizophrenia |
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| Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation |
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| Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans |
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| Reply to Baron |
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| Calpainopathy—A Survey of Mutations and Polymorphisms |
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| Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23 |
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| Combined Use of Biallelic and Microsatellite Y-Chromosome Polymorphisms to Infer Affinities among African Populations |
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| Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites |
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| Failure to Detect Linkage of Preeclampsia to the Region of the NOS3 Locus on Chromosome 7q |
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| This Month in the Journal |
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| The Critical Region for Behçet Disease in the Human Major Histocompatibility Complex Is Reduced to a 46-kb Segment Centromeric of HLA-B, by Association Analysis Using Refined Microsatellite Mapping |
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| Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry |
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✓ |
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Mennonite Ancestry |
| Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44 |
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| Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene (HGO) |
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| Autosomal Dominant Myopathy with Proximal Weakness and Early Respiratory Muscle Involvement Maps to Chromosome 2q |
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| The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events |
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| Hypomethylation of an Expanded FMR1 Allele Is Not Associated with a Global DNA Methylation Defect |
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| The Duty to Recontact: Attitudes of Genetics Service Providers |
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| Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism |
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| DNA Variation in a 5-Mb Region of the X Chromosome and Estimates of Sex-Specific/Type-Specific Mutation Rates |
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| Visuospatial Construction |
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| The Yeast Connection to Friedreich Ataxia |
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| Transcription-Coupled Repair of DNA Damage: Unanticipated Players, Unexpected Complexities |
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| Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993 |
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| Genes That Regulate Eosinophilic Inflammation |
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| Polymorphic X-Chromosome Inactivation of the Human TIMP1 Gene |
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| Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease) |
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| Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level |
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| A Program for the Monte Carlo Evaluation of Significance of the Extended Transmission/Disequilibrium Test |
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| This Month in the Journal |
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| A General Conditional-Logistic Model for Affected-Relative-Pair Linkage Studies |
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| Blocking Gibbs Sampling for Linkage Analysis in Large Pedigrees with Many Loops |
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| Reply to Guo and to Chen et al. |
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| Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype |
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✓ |
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Western European Descent |
| New Solutions to an Ancient Riddle: Defining the Differences between Adam and Eve |
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| Power Comparisons of the Transmission/Disequilibrium Test and Sib–Transmission/Disequilibrium-Test Statistics |
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| Mapping of Primary Congenital Lymphedema to the 5q35.3 Region |
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| Cultural Difference and the Eugenics Law |
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| Deafness Locus DFNB16 Is Located on Chromosome 15q13-q21 within a 5-cM Interval Flanked by Markers D15S994 and D15S132 |
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| Assessment of Linkage Disequilibrium by the Decay of Haplotype Sharing, with Application to Fine-Scale Genetic Mapping |
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| Replication of Linkage Studies of Complex Traits: An Examination of Variation in Location Estimates |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to [email protected] or by fax to (2 |
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| Prevalence and Phenotype Consequence of FRAXA and FRAXE Alleles in a Large, Ethnically Diverse, Special Education–Needs Population |
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| Germ-Line Mosaicism in Tuberous Sclerosis: How Common? |
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| Linkage-Disequilibrium Mapping of Disease Genes by Reconstruction of Ancestral Haplotypes in Founder Populations |
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| Rett Syndrome in a Boy with a 47,XXY Karyotype |
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| The Gene for Cherubism Maps to Chromosome 4p16.3 |
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| Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease |
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| Human Genetics: Choice and Responsibility |
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| Phyllis J. McAlpine, Ph.D., 1941–98: In Memoriam |
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| Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13 |
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| The Central Siberian Origin for Native American Y Chromosomes |
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| A Comprehensive Linkage Analysis of Chromosome 21q22 Supports Prior Evidence for a Putative Bipolar Affective Disorder Locus |
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| A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia |
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| Quantitative-Trait Locus for Specific Language and Reading Deficits on Chromosome 6p |
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| Comparison of Linkage-Disequilibrium Methods for Localization of Genes Influencing Quantitative Traits in Humans |
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| Male Infertility and the Y Chromosome |
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| A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3 |
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| This Month in the |
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| Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia |
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| Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations |
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| Human Molybdopterin Synthase Gene: Identification of a Bicistronic Transcript with Overlapping Reading Frames |
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| Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33 |
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| Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes |
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| A 22q11.2 Deletion That Excludes UFD1L and CDC45L in a Patient with Conotruncal and Craniofacial Defects |
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| Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B |
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| Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees |
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| When Less Is More: Gene Loss as an Engine of Evolutionary Change |
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| Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More Frequently in Male Germ Cells, but Point Mutatio |
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| A Look Back |
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| Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry |
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West African Ancestry |
| Spectrum of Mutations in α-Mannosidosis |
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| Genome Scan for Human Obesity and Linkage to Markers in 20q13 |
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| The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients with Prostate Cancer |
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✓ |
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Ashkenazi, Jewish |
| A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3 |
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| A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration |
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| Fragile Sites—Cytogenetic Similarity with Molecular Diversity |
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| Mapping of a First Locus for Autosomal Dominant Myxomatous Mitral-Valve Prolapse to Chromosome 16p11.2-p12.1 |
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| The Glu318Gly Substitution in Presenilin 1 Is Not Causally Related to Alzheimer Disease |
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| Absolute Pitch: Prevalence, Ethnic Variation, and Estimation of the Genetic Component |
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| The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene |
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| Genomewide Scan for Familial Combined Hyperlipidemia Genes in Finnish Families, Suggesting Multiple Susceptibility Loci Influencing Triglyceride, Cholesterol, and Apolipoprotein B Levels |
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| From the ER to the Golgi: Insights from the Study of Combined Factors V and VIII Deficiency |
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| Toward an Understanding of the Cause of Mitral Valve Prolapse |
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| Multipoint Oligogenic Analysis of Age-at-Onset Data with Applications to Alzheimer Disease Pedigrees |
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| A Genomewide Screen for Schizophrenia Genes in an Isolated Finnish Subpopulation, Suggesting Multiple Susceptibility Loci |
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isolated Finnish subpopulation |
| Linkage of Familial Schizophrenia to Chromosome 13q32 |
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| SPERMSEG: Analysis of Segregation Distortion in Single-Sperm Data |
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| The Interpretation of the Parameters in the Transmission/Disequilibrium Test |
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| TDT Clarification |
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| Phenotypes in Three Pedigrees with Autosomal Dominant Obesity Caused by Haploinsufficiency Mutations in the Melanocortin-4 Receptor Gene |
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| Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome |
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| Anticipation in Familial Chronic Lymphocytic Leukemia |
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| Joint Multipoint Linkage Analysis of Multivariate Qualitative and Quantitative Traits. I. Likelihood Formulation and Simulation Results |
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| The Duty to Recontact: Benefit and Harm |
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| Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation |
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| Cystic Fibrosis as a Disease of Misprocessing of the Cystic Fibrosis Transmembrane Conductance Regulator Glycoprotein |
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| Genetic Diseases of the Eye. |
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| A Note on Power Approximations for the Transmission/Disequilibrium Test |
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| The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk |
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| Yeast as a Model for Human mtDNA Replication |
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| Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population |
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✓ |
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Ashkenazi Jewish Population |
| Erratum |
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| An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p |
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| Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families |
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| Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion |
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| Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection |
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| Association of RET Protooncogene Codon 45 Polymorphism with Hirschsprung Disease |
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| Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold |
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| The Molecular Basis of Vascular Disorders |
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| Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme |
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| FMR1 CGG-Repeat Instability in Single Sperm and Lymphocytes of Fragile-X Premutation Males |
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| An Empirical Exploration of the (Δμ)2 Genetic Distance for 213 Human Microsatellite Markers |
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| Patterns of Instability of Expanded CAG Repeats at the ERDA1 Locus in General Populations |
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| Analysis of Affected Sib Pairs, with Covariates—With and Without Constraints |
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| Inbreeding Effects on Fertility in Humans: Evidence for Reproductive Compensation |
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| A Novel 22q11.2 Microdeletion in DiGeorge Syndrome |
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| Tracing the Origin of HLA-DRB1 Alleles by Microsatellite Polymorphism |
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| Announcements |
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| Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A→G Splice-Donor–Site Mutation at Position +3 of the Collagenlike-Tail–Subunit Gene (COLQ): How Does G at Posi |
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| Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12 |
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| The Genomic Record of Humankind's Evolutionary Roots |
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| Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias |
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| This Month in the Journal |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
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| Sibling-Based Tests of Linkage and Association for Quantitative Traits |
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| Genomic Structure of the Canalicular Multispecific Organic Anion–Transporter Gene (MRP2/cMOAT) and Mutations in the ATP-Binding–Cassette Region in Dubin-Johnson Syndrome |
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| Transmission/Disequilibrium Tests for Extended Marker Haplotypes |
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| Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain |
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| Rapid Clearance of Fetal DNA from Maternal Plasma |
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| Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development |
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| PEX13 Is Mutated in Complementation Group 13 of the Peroxisome-Biogenesis Disorders |
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