| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 61 |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 61 |
|
|
|
|
|
|
|
|
|
| Optimizing Genetics Services in a Social, Ethical, and Policy Context: Suggestions from Consumers and Providers in the New England Regional Genetics Group (NERGG) |
|
|
|
|
|
|
|
|
|
| Multiple Sclerosis in Sardinia Is Associated and in Linkage Disequilibrium with HLA-DR3 and -DR4 Alleles |
|
|
|
|
|
|
|
|
|
| Evidence for a Possible Asian Origin of YAP+ Y Chromosomes |
|
|
|
|
|
|
|
|
|
| Genetic Counseling Is Directive? Look Again |
|
|
|
|
|
|
|
|
|
| Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome |
|
|
|
|
|
|
|
|
|
| Disease Relevance of the So-Called Secondary Leber Hereditary Optic Neuropathy Mutations |
|
|
|
|
|
|
|
|
|
| Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region |
|
|
|
|
|
|
|
|
|
| A Common mtDNA Polymorphism Associated with Variation in Plasma Triglyceride Concentration |
|
|
|
|
|
|
|
|
|
| Meiotic Drive at the Myotonic Dystrophy and the Cone-Rod Dystrophy Loci on Chromosome 19q13.3 |
|
|
|
|
|
|
|
|
|
| Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci |
|
|
|
|
|
|
|
|
|
| Diagnostic Testing for Prader-Willi and Angelman Syndromes: Response |
|
|
|
|
|
|
|
|
|
| Further Comments on the Characterization of Founder Amerindian Mitochondrial Haplotypes |
|
|
|
|
|
|
|
|
|
| Reply to Cavalli-Sforza and Minch |
|
|
|
|
|
|
|
|
|
| Nonparametric Linkage Tests Are Model Free |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25 |
|
|
|
|
|
|
|
|
|
| Reply to Sham |
|
|
|
|
|
|
|
|
|
| Family Cell Lines Available for Research—An Endangered Resource? |
|
|
|
|
|
|
|
|
|
| Nonrandom X-Chromosome Inactivation in Hemopoietic Cells from Carriers of Dyskeratosis Congenita |
|
|
|
|
|
|
|
|
|
| Is There an Abnormal Phenotype Associated with Maternal Isodisomy for Chromosome 2 in the Presence of Two Isochromosomes? |
|
|
|
|
|
|
|
|
|
| Bilateral Retinoblastoma in a Male Patient with an X;13 Translocation: Evidence for Silencing of the RB1 Gene by the Spreading of X Inactivation |
|
|
|
|
|
|
|
|
|
| Life as We Know It: A Father, a Family, and an Exceptional Child |
|
|
|
|
|
|
|
|
|
| Chromosome Abnormalities and Genetic Counseling |
|
|
|
|
|
|
|
|
|
| Molecular Biology Made Simple and Fun |
|
|
|
|
|
|
|
|
|
| A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family |
|
|
|
|
|
|
|
|
|
| Reply to Bianchi and Bailliet |
|
|
|
|
|
|
|
|
|
| Approximate Variance of the Standardized Measure of Gametic Disequilibrium D′ |
|
|
|
|
|
|
|
|
|
| Transmission/Disequilibrium Tests for Multiallelic Loci |
|
|
|
|
|
|
|
|
|
| Further Evidence Suggesting the Presence of a Locus, on Human Chromosome 5q31-q33, Influencing the Intensity of Infection with Schistosoma mansoni |
|
|
|
|
|
|
|
|
|
| A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X-Linked Myotubular Myopathy |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon |
|
|
|
|
|
|
|
|
|
| Up-Regulation of the Brain and Purkinje-Cell Forms of Dystrophin Transcripts, in Becker Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Genetic Variation and Human Disease: Principles and Evolutionary Approaches |
|
|
|
|
|
|
|
|
|
| Gene Therapy: A Primer for Physicians |
|
|
|
|
|
|
|
|
|
| DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene |
|
|
|
|
|
|
✓ |
|
Amish |
| Nonreplication of Linkage Disequilibrium between the Dopamine D4 Receptor Locus and Tourette Syndrome |
|
|
|
|
|
|
|
|
|
| Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool |
|
|
|
|
✓ |
|
|
|
European Mitochondrial Gene Pool |
| The Significance of the 187G (H63D) Mutation in Hemochromatosis |
|
|
|
|
|
|
|
|
|
| The Genetic Clock and the Age of the Founder Effect in Growing Populations: A Lesson from French Canadians and Ashkenazim |
|
|
|
|
|
|
✓ |
|
French Canadians; Ashkenazim |
| Reply to Bandelt and Forster |
|
|
|
|
|
|
|
|
|
| Reply to Macauley et al. |
|
|
|
|
|
|
|
|
|
| Reply to Macauley et al. |
|
|
|
|
|
|
|
|
|
| mtDNA Mutation Rates-No Need to Panic |
|
|
|
|
|
|
|
|
|
| Evidence That the Apolipoprotein E-Genotype Effects on Lipid Levels Can Change with Age in Males: A Longitudinal Analysis |
|
|
|
|
|
|
|
|
|
| When Is a Deletion Not a Deletion? When It Is Converted |
|
|
|
|
|
|
|
|
|
| The Apo(a) Gene is the Major Determinant of Variation in Plasma Lp(a) Levels in African Americans |
|
|
|
|
|
|
✓ |
|
African Americans |
| Tests for Linkage and Association in Nuclear Families |
|
|
|
|
|
|
|
|
|
| Announcements1 1Announcements 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 |
|
|
|
|
|
|
|
|
|
| Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 |
|
|
|
|
|
|
|
|
|
| The Myth of Bumpy Hunter-Gatherer Mismatch Distributions |
|
|
|
|
|
|
|
|
|
| Evidence for at Least Eight Fanconi Anemia Genes |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 60 |
|
|
|
|
|
|
|
|
|
| Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle |
|
|
|
|
|
|
|
|
|
| Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number |
|
|
|
|
|
|
|
|
|
| The Great Escape |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses |
|
|
|
|
|
|
|
|
|
| Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool |
|
|
|
|
✓ |
|
|
|
European |
| Bilateral Retinoblastoma in a Male Patient with an X;13 Translocation: Evidence for Silencing of the RB1 Gene by the Spreading of X Inactivation |
|
|
|
|
|
|
|
|
|
| Nonrandom X‐Chromosome Inactivation in Hemopoietic Cells from Carriers of Dyskeratosis Congenita |
|
|
|
|
|
|
|
|
|
| The Significance of the 187G (H63D) Mutation in Hemochromatosis |
|
|
|
|
|
|
|
|
|
| Family Cell Lines Available for Research—An Endangered Resource? |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 61 |
|
|
|
|
|
|
|
|
|
| Contents of Volume 61 |
|
|
|
|
|
|
|
|
|
| Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat |
|
|
|
|
|
|
|
|
|
| Variable Age at Onset in Insulin-Dependent Diabetes Mellitus, by the Marker-Association-Segregation-χ2 Method |
|
|
|
|
|
|
|
|
|
| The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103 |
|
|
|
|
|
|
|
|
|
| Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1) |
|
|
|
|
|
|
|
|
|
| Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C |
|
|
|
|
|
|
|
|
|
| Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome |
|
|
|
|
|
|
|
|
|
| Familial Skewed X Inactivation: A Molecular Trait Associated with High Spontaneous-Abortion Rate Maps to Xq28 |
|
|
|
|
|
|
|
|
|
| Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde |
|
|
|
|
|
|
|
|
|
| A Linkage Strategy for Detection of Human Quantitative-Trait Loci. I. Generalized Relative Risk Ratios and Power of Sib Pairs with Extreme Trait Values |
|
|
|
|
|
|
|
|
|
| A Linkage Strategy for Detection of Human Quantitative-Trait Loci. II. Optimization of Study Designs Based on Extreme Sib Pairs and Generalized Relative Risk Ratios |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Evidence for a Familial Pregnancy-Induced Hypertension Locus in the eNOS-Gene Region |
|
|
|
|
|
|
|
|
|
| Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21 |
|
|
|
|
|
|
|
|
|
| Spectrum of Mutations in the Batten Disease Gene, CLN3 |
|
|
|
|
|
|
|
|
|
| Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations |
|
|
|
|
|
|
|
|
|
| Localization of the Gene Causing Keratolytic Winter Erythema to Chromosome 8p22-p23, and Evidence for a Founder Effect in South African Afrikaans-Speakers |
|
|
|
|
|
|
|
|
|
| Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of 49 High-Risk Families Does Not Support a Common Familial Prostate Cancer—Susceptibility Gene at 1q24-25 |
|
|
|
|
|
|
|
|
|
| Low Frequency of p57KIP2 Mutation in Beckwith-Wiedemann Syndrome |
|
|
|
|
|
|
|
|
|
| Accurate Inference of Relationships in Sib-Pair Linkage Studies |
|
|
|
|
|
|
|
|
|
| The Final Stage of Gene Expression: Chaperones and the Regulation of Protein Fate |
|
|
|
|
|
|
|
|
|
| Embryonic Lethal Abnormal Visual RNA-Binding Proteins Involved in Growth, Differentiation, and Posttranscriptional Gene Expression |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Identification of Genetic Mutations in Japanese Patients with Fructose-1, 6-Bisphosphatase Deficiency |
|
|
|
|
|
|
✓ |
|
Japanese |
| Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16 |
|
|
|
|
|
|
|
|
|
| The Gene for Autosomal Dominant Craniometaphyseal Dysplasia Maps to Chromosome 5p and Is Distinct from the Growth Hormone-Receptor Gene |
|
|
|
|
|
|
|
|
|
| Evidence for a Major Gene Controlling Susceptibility to Tegumentary Leishmaniasis in a Recently Exposed Bolivian Population |
|
|
|
|
|
|
|
|
|
| The Fate of Human Sperm-Derived mtDNA in Somatic Cells |
|
|
|
|
|
|
|
|
|
| Fetal Cells in Maternal Circulation: Progress in Analysis of a Rare Event |
|
|
|
|
|
|
|
|
|
| Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations |
|
|
|
|
|
|
|
|
|
| Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2 |
|
|
|
|
|
|
|
|
|
| Mutation Profile of All 49 Exons of the Human Myosin VIIA Gene, and Haplotype Analysis, in Usher 1B Families from Diverse Origins |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Haplotypes of Angiotensinogen in Essential Hypertension |
|
|
|
|
|
|
|
|
|
| Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14 |
|
|
|
|
|
|
|
|
|
| Genetic Mapping Using Microcell-Mediated Chromosome Transfer Suggests a Locus for Nijmegen Breakage Syndrome at Chromosome 8q21-24 |
|
|
|
|
|
|
|
|
|
| <i>Genetic Variation and Human Disease: Principles and Evolutionary Approaches.</i>By Kenneth M. Weiss:Genetic Variation and Human Disease: Principles and Evolutionary Approaches |
|
|
|
|
|
|
|
|
|
| <i>Gene Therapy: A Primer for Physicians. 2d ed.</i>By Kenneth Culver:Gene Therapy: A Primer for Physicians |
|
|
|
|
|
|
|
|
|
| <i>Molecular Biology Made Simple and Fun.</i>By David P. Clark and Lonnie D. Russell:Molecular Biology Made Simple and Fun |
|
|
|
|
|
|
|
|
|
| Understanding the Genetic Basis of Mood Disorders: Where Do We Stand? |
|
|
|
|
|
|
|
|
|
| Genetic Influences in Childhood-Onset Psychiatric Disorders: Autism and Attention-Deficit/Hyperactivity Disorder |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 60 |
|
|
|
|
|
|
|
|
|
| Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey |
|
|
|
|
|
|
|
|
|
| Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24 |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB) |
|
|
|
|
|
|
|
|
|
| Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas |
|
|
|
|
|
|
|
|
|
| Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients |
|
|
|
|
|
|
|
|
|
| Multilocus Genotypes, a Tree of Individuals, and Human Evolutionary History |
|
|
|
|
|
|
|
|
|
| Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen |
|
|
|
|
|
|
|
|
|
| Principles and Practice of Medical Genetics |
|
|
|
|
|
|
|
|
|
| Common BRCA1 Variants and Transcriptional Activation |
|
|
|
|
|
|
|
|
|
| Meiotic Segregation, Recombination, and Gamete Aneuploidy Assessed in a t(1;10)(p22.1;q22.3) Reciprocal Translocation Carrier by Three- and Four-Probe Multicolor FISH in Sperm |
|
|
|
|
|
|
|
|
|
| The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope |
|
|
|
|
|
|
|
|
|
| Semper Fidelis: What Man's Best Friend Can Teach Us about Human Biology and Disease |
|
|
|
|
|
|
|
|
|
| Analysis of the RPGRGene in 11 Pedigrees with the Retinitis Pigmentosa Type 3 Genotype: Paucity of Mutations in the Coding Region but Splice Defects in Two Families |
|
|
|
|
|
|
|
|
|
| Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa |
|
|
|
|
|
|
|
|
|
| Nonreplication of Linkage Disequilibrium between the Dopamine D4 Receptor Locus and Tourette Syndrome |
|
|
|
|
|
|
|
|
|
| Diagnostic Testing for Prader‐Willi and Angelman Syndromes: Response |
|
|
|
|
|
|
|
|
|
| A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X‐Linked Myotubular Myopathy |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado‐Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon |
|
|
|
|
|
|
|
|
|
| A Common mtDNA Polymorphism Associated with Variation in Plasma Triglyceride Concentration |
|
|
|
|
|
|
|
|
|
| Further Evidence Suggesting the Presence of a Locus, on Human Chromosome 5q31–q33, Influencing the Intensity of Infection with Schistosoma mansoni |
|
|
|
|
|
|
|
|
|
| Multiple Sclerosis in Sardinia Is Associated and in Linkage Disequilibrium with HLA‐DR3 and ‐DR4 Alleles |
|
|
|
|
|
|
|
|
|
| The Genetic Clock and the Age of the Founder Effect in Growing Populations: A Lesson from French Canadians and Ashkenazim |
|
|
|
|
|
|
✓ |
|
French Canadians; Ashkenazim |
| mtDNA Mutation Rates—No Need to Panic |
|
|
|
|
|
|
|
|
|
| Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype |
|
|
|
|
|
|
|
|
|
| The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12 |
|
|
|
|
|
|
|
|
|
| Cancer Risks in Two Large Breast Cancer Families Linked to BRCA2 on Chromosome 13q12‐13 |
|
|
|
|
|
|
|
|
|
| XIST Expression in Human Oocytes and Preimplantation Embryos |
|
|
|
|
|
|
|
|
|
| Testing Association between Candidate-Gene Markers and Phenotype in Related Individuals, by Use of Estimating Equations |
|
|
|
|
|
|
|
|
|
| The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 |
|
|
|
|
|
|
|
|
|
| Simultaneous, Multilocus FISH Analysis for Detection of Microdeletions in the Diagnostic Evaluation of Developmental Delay and Mental Retardation |
|
|
|
|
|
|
|
|
|
| Multilocus FISH Analysis |
|
|
|
|
|
|
|
|
|
| XISTExpression and X-Chromosome Inactivation in Human Preimplantation Embryos |
|
|
|
|
|
|
|
|
|
| Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi Syndrome |
|
|
|
|
|
|
|
|
|
| Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors |
|
|
|
|
|
|
|
|
|
| True and False Positive Peaks in Genomewide Scans: Applications of Length-Biased Sampling to Linkage Mapping |
|
|
|
|
|
|
|
|
|
| The Regulation of Splice-Site Selection, and Its Role in Human Disease |
|
|
|
|
|
|
|
|
|
| A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus |
|
|
|
|
|
|
|
|
|
| Predictive Testing for Retinoblastoma Comes of Age |
|
|
|
|
|
|
|
|
|
| Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression |
|
|
|
|
|
|
|
|
|
| Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome |
|
|
|
|
|
|
|
|
|
| Hereditary Geniospasm: Linkage to Chromosome 9q13-q21 and Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| PCR Quantitation of Fetal Cells in Maternal Blood in Normal and Aneuploid Pregnancies |
|
|
|
|
|
|
|
|
|
| Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene |
|
|
|
|
|
|
|
|
|
| What Is Significant in Whole-Genome Linkage Disequilibrium Studies? |
|
|
|
|
|
|
|
|
|
| Cell-Cycle Regulation of Mammalian DNA Double-Strand-Break Repair |
|
|
|
|
|
|
|
|
|
| Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23 |
|
|
|
|
|
|
|
|
|
| Message Therapy: Gene Therapy That Targets mRNA Sequence and Stability |
|
|
|
|
|
|
|
|
|
| Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes |
|
|
|
|
|
|
|
|
|
| Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis |
|
|
|
|
|
|
|
|
|
| Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease |
|
|
|
|
|
|
|
|
|
| Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes |
|
|
|
|
|
|
|
|
|
| The Val985Met Insulin-Receptor Variant in the Danish Caucasian Population: Lack of Associations with Non—Insulin-Dependent Diabetes Mellitus or Insulin Resistance |
✓ |
|
|
|
|
|
|
|
|
| Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach |
|
|
|
|
|
|
|
|
|
| Homozygosity and Linkage‐Disequilibrium Mapping of the Urofacial (Ochoa) Syndrome Gene to a 1‐cM Interval on Chromosome 10q23‐q24 |
|
|
|
|
|
|
|
|
|
| Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13) |
|
|
|
|
|
|
|
|
|
| Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome |
|
|
|
|
|
|
|
|
|
| Recent Developments in Human Behavioral Genetics: Past Accomplishments and Future Directions |
|
|
|
|
|
|
|
|
|
| Mouse Genetics |
|
|
|
|
|
|
|
|
|
| Searching for Gene Defects That Cause High Bone Mass |
|
|
|
|
|
|
|
|
|
| A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2) |
|
|
|
|
|
|
|
|
|
| Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci |
|
|
|
|
|
|
|
|
|
| Markov Chain Monte Carlo Segregation and Linkage Analysis for Oligogenic Models |
|
|
|
|
|
|
|
|
|
| Interactions between Genetic and Reproductive Factors in Breast Cancer Risk in a French Family Sample |
|
|
|
|
|
|
|
|
|
| HLA and Mate Choice in Humans |
|
|
|
|
|
|
|
|
|
| <i>Optimizing Genetics Services in a Social, Ethical, and Policy Context: Suggestions from Consumers and Providers in the New England Regional Genetics Group (NERGG)</i>By Dorothy C. Wertz and Robin G |
|
|
|
|
|
|
|
|
|
| A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map |
|
|
|
|
|
|
|
|
|
| Of Monkeys and Men: Vervets and the Genetics of Human-Like Behaviors |
|
|
|
|
|
|
|
|
|
| Baboons as an Animal Model for Genetic Studies of Common Human Disease |
|
|
|
|
|
|
|
|
|
| Absence of Mutations Raises Doubts about the Role of the 70‐kD Peroxisomal Membrane Protein in Zellweger Syndrome |
|
|
|
|
|
|
|
|
|
| Disease Relevance of the So‐Called Secondary Leber Hereditary Optic Neuropathy Mutations |
|
|
|
|
|
|
|
|
|
| Up‐Regulation of the Brain and Purkinje‐Cell Forms of Dystrophin Transcripts, in Becker Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Meiotic Drive at the Myotonic Dystrophy and the Cone‐Rod Dystrophy Loci on Chromosome 19q13.3 |
|
|
|
|
|
|
|
|
|
| Genetic Counseling Is Directive? Look Again |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Axenfeld‐Rieger Anomaly Maps to 6p25 |
|
|
|
|
|
|
|
|
|
| Transmission/Disequilibrium Tests for Multiallelic Loci |
|
|
|
|
|
|
|
|
|
| Reply to Sham |
|
|
|
|
|
|
|
|
|
| Family Cell Lines Available for Research??An Endangered Resource? |
|
|
|
|
|
|
|
|
|
| Reply to Bandelt and Forster |
|
|
|
|
|
|
|
|
|
| Reply to Macauley et al. |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 61 |
|
|
|
|
|
|
|
|
|
| FcεR1-b Polymorphism and Total Serum IgE Levels in Endemically Parasitized Australian Aborigines |
|
|
|
|
|
|
|
|
|
| First-Meiotic-Division Nondisjunction in Human Oocytes |
|
|
|
|
|
|
|
|
|
| Identification of the Human Chromosomal Region Containing the Iridogoniodysgenesis Anomaly Locus by Genomic-Mismatch Scanning |
|
|
|
|
|
|
|
|
|
| Reduced Frequency of Extracolonic Cancers in Hereditary Nonpolyposis Colorectal Cancer Families with Monoallelic hMLH1Expression |
|
|
|
|
|
|
|
|
|
| Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia |
|
|
|
|
|
|
|
|
|
| Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome |
|
|
|
|
|
|
|
|
|
| mtDNA Recombination: What Do In Vitro Data Mean? |
|
|
|
|
|
|
|
|
|
| Human Female Meiosis: New Insights into an Error-Prone Process |
|
|
|
|
|
|
|
|
|
| Homologous Recombination in Human Mitochondria? |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma |
|
|
|
|
|
|
|
|
|
| Analysis of Genetic Linkage and Somatic Loss of Heterozygosity in Affected Pairs of First-Degree Relatives |
|
|
|
|
|
|
|
|
|
| Cancer Cytogenetics |
|
|
|
|
|
|
|
|
|
| Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia |
|
|
|
|
|
|
|
|
|
| Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chrom |
|
|
|
|
|
|
✓ |
|
Japanese |
| Risk Reversals in Predictive Testing for Huntington Disease |
|
|
|
|
|
|
|
|
|
| Familial Glaucoma Iridogoniodysplasia Maps to a 6p25 Region Implicated in Primary Congenital Glaucoma and Iridogoniodysgenesis Anomaly |
|
|
|
|
|
|
|
|
|
| A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome |
|
|
|
|
|
|
|
|
|
| The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies |
|
|
|
|
|
|
|
|
|
| Unconventional Myosins, the Basis for Deafness in Mouse and Man |
|
|
|
|
|
|
|
|
|
| A Novel Locus for Autosomal Dominant Nonsyndromic Hearing Loss, DFNA13, Maps to Chromosome 6p |
|
|
|
|
|
|
|
|
|
| The Promise and Reality of Cancer Gene Therapy |
|
|
|
|
|
|
|
|
|
| Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria |
|
|
|
|
|
|
|
|
|
| Heritability of Longitudinal Changes in Coronary-Heart-Disease Risk Factors in Women Twins |
|
|
|
|
|
|
|
|
|
| Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa |
|
|
|
|
|
|
|
|
|
| Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease Chromosomes |
|
|
|
|
|
|
|
|
|
| A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13 |
|
|
|
|
|
|
|
|
|
| A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly |
|
|
|
|
|
|
|
|
|
| Functional and Structural Features of a Tandem Duplication of the Human mtDNA Promoter Region |
|
|
|
|
|
|
|
|
|
| Fine-Scale Genetic Mapping Based on Linkage Disequilibrium: Theory and Applications |
|
|
|
|
|
|
|
|
|
| <i>Life as We Know It: A Father, a Family, and an Exceptional Child.</i>By Michael Berube:Life as We Know It: A Father, a Family, and an Exceptional Child |
|
|
|
|
|
|
|
|
|
| <i>Chromosome Abnormalities and Genetic Counseling.</i>By R. J. McKinlay Gardner and Grant R. Sutherland:Chromosome Abnormalities and Genetic Counseling |
|
|
|
|
|
|
|
|
|
| To Fire the Train: A Second Malignant-Hyperthermia Gene |
|
|
|
|
|
|
|
|
|
| Genetics of Narcolepsy and Other Sleep Disorders |
|
|
|
|
|
|
|
|
|
| Expression of Genes from the Human Active and Inactive X Chromosomes |
|
|
|
|
|
|
|
|
|
| Contents of Volume 60 |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Bells and Whistles |
|
|
|
|
|
|
|
|
|
| Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation |
|
|
|
|
|
|
|
|
|
| Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population |
|
|
|
|
|
|
|
|
|
| Deletion of RBExons 24 and 25 Causes Low-Penetrance Retinoblastoma |
|
|
|
|
|
|
|
|
|
| Mitochondrial Footprints of Human Expansions in Africa |
|
|
|
|
|
|
|
|
|
| Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes |
|
|
|
|
|
|
|
|
|
| Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase |
|
|
|
|
|
|
|
|
|
| HLA and Mate Selection: No Evidence in South Amerindians |
|
|
|
|
|
|
|
|
|
| Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome |
|
|
|
|
|
|
|
|
|
| HLA and Mate Selection in Humans: Commentary |
|
|
|
|
|
|
|
|
|
| DNA Studies of Limb‐Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene |
|
|
|
|
|
|
✓ |
|
Amish |
| A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family |
|
|
|
|
|
|
|
|
|
| Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci |
|
|
|
|
|
|
|
|
|
| Further Comments on the Characterization of Founder Amerindian Mitochondrial Haplotypes |
|
|
|
|
|
|
|
|
|
| Reply to Bianchi and Bailliet |
|
|
|
|
|
|
|
|
|
| Reply to Cavalli‐Sforza and Minch |
|
|
|
|
|
|
|
|
|
| Nonparametric Linkage Tests Are Model Free |
|
|
|
|
|
|
|
|
|
| Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region |
|
|
|
|
|
|
|
|
|
| Is There an Abnormal Phenotype Associated with Maternal Isodisomy for Chromosome 2 in the Presence of Two Isochromosomes? |
|
|
|
|
|
|
|
|
|
| Evidence for a Possible Asian Origin of YAP+ Y Chromosomes |
|
|
|
|
|
|
|
|
|
| <i>Cancer Cytogenetics. 2d ed.</i>By Sverre Heim and Felix Mitelman |
|
|
|
|
|
|
|
|
|
| Approximate Variance of the Standardized Measure of Gametic Disequilibrium D′ |
|
|
|
|
|
|
|
|
|
| Reply to Pragliola et al. |
|
|
|
|
|
|
|
|
|
| De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling |
|
|
|
|
|
|
|
|
|
| Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene |
|
|
|
|
|
|
|
|
|
| Laboratory Policies and Practices for the Genetic Testing of Children: A Survey of the Helix Network |
|
|
|
|
|
|
|
|
|
| Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele |
|
|
|
|
|
|
|
|
|
| Human Genetic Affinities for Y-Chromosome P49a,f/TaqI Haplotypes Show Strong Correspondence with Linguistics |
|
|
|
|
|
|
|
|
|
| Rufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene |
|
|
|
|
|
|
✓ |
|
Southern African Blacks |
| Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations |
|
|
|
|
|
|
|
|
|
| Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation |
|
|
|
|
|
|
|
|
|
| Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus |
|
|
|
|
|
|
|
|
|
| d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder |
|
|
|
|
|
|
|
|
|
| Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4 |
|
|
|
|
|
|
|
|
|
| Goosecoid-Like Sequences and the Smallest Region of Deletion Overlap in DiGeorge and Velocardiofacial Syndromes |
|
|
|
|
|
|
|
|
|
| Understanding Human Cancer in a Fly? |
|
|
|
|
|
|
|
|
|
| Genomewide Transmission/Disequilibrium Testing—Consideration of the Genotypic Relative Risks at Disease Loci |
|
|
|
|
|
|
|
|
|
| PTEN: Sometimes Taking It Off Can Be Better than Putting It On |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X-Linked Retinitis Pigmentosa |
|
|
|
|
|
|
|
|
|
| Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer |
|
|
|
|
|
|
|
|
|
| Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy |
|
|
|
|
|
|
|
|
|
| “Mistakes Happen”: Somatic Mutation and Disease |
|
|
|
|
|
|
|
|
|
| Centromere DNA Dynamics: Latent Centromeres and Neocentromere Formation |
|
|
|
|
|
|
|
|
|
| Novel Alleles of the Chemokine-Receptor Gene CCR5 |
|
|
|
|
|
|
|
|
|
| A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter |
|
|
|
|
|
|
|
|
|
| Loss of Heterozygosity or: How I Learned to Stop Worrying and Love Mitotic Recombination |
|
|
|
|
|
|
|
|
|
| D4 Dopamine-Receptor (DRD4) Alleles and Novelty Seeking in Substance-Dependent, Personality-Disorder, and Control Subjects |
|
|
|
|
|
|
|
|
|
| Pharmacogenetics |
|
|
|
|
|
|
|
|
|
| Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search |
|
|
|
|
|
|
|
|
|
| Genetic Linkage of Paget Disease of the Bone to Chromosome 18q |
|
|
|
|
|
|
|
|
|
| Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations |
|
|
|
|
|
|
|
|
|
| Use of a Quantitative Trait to Map a Locus Associated with Severity of Positive Symptoms in Familial Schizophrenia to Chromosome 6p |
|
|
|
|
|
|
|
|
|
| Editorial Reviewers for 1997 |
|
|
|
|
|
|
|
|
|
| Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism |
|
|
|
|
|
|
|
|
|
| The Frequency of the Methylenetetrahydrofolate Reductase–Gene Mutation Varies with Age in the Normal Population |
|
|
|
|
|
|
|
|
|
| Genetic Segregation Analysis of Early-Onset Recurrent Unipolar Depression |
|
|
|
|
|
|
|
|
|
| Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV |
|
|
|
|
|
|
|
|
|
| Allele-Sharing Models: LOD Scores and Accurate Linkage Tests |
|
|
|
|
|
|
|
|
|
| Genomewide Scan of Multiple Sclerosis in Finnish Multiplex Families |
|
|
|
|
|
|
|
|
|
| Fragile X Premutations Are Not a Major Cause of Early Menopause |
|
|
|
|
|
|
|
|
|
| Comparison of Nonparametric Statistics for Detection of Linkage in Nuclear Families: Single-Marker Evaluation |
|
|
|
|
|
|
|
|
|
| Genomic Imprinting: A Chromatin Connection |
|
|
|
|
|
|
|
|
|
| Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome |
|
|
|
|
|
|
|
|
|
| Reply to Little |
|
|
|
|
|
|
|
|
|
| Dynamic Interrelationships between DNA Replication, Methylation, and Repair |
|
|
|
|
|
|
|
|
|
| Mutations of the Fanconi Anemia Group A Gene (FAA) in Italian Patients |
|
|
|
|
|
|
✓ |
|
Italian |
| Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome |
|
|
|
|
|
|
|
|
|
| DNA Variation and Language Affinities |
|
|
|
|
|
|
|
|
|
| Oxford Medical Databases |
|
|
|
|
|
|
|
|
|
| CFTR Gene Mutations in Men with Bilateral Ejaculatory-Duct Obstruction and Anomalies of the Seminal Vesicles |
|
|
|
|
|
|
|
|
|
| Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis |
|
|
|
|
|
|
|
|
|
| Childhood Cancer and Neural Tube Defects |
|
|
|
|
|
|
|
|
|
| Diversity and Age of the Four Major mtDNA Haplogroups, and Their Implications for the Peopling of the New World |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Instability of the (CTG)n Repeat in Congenital Myotonic Dystrophy |
|
|
|
|
|
|
|
|
|
| The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases |
|
|
|
|
|
|
|
|
|
| Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis |
|
|
|
|
|
|
|
|
|
| Mutation Detection in the Repeated Part of the PKD1 Gene |
|
|
|
|
|
|
|
|
|
| Familial Multiple-System Tauopathy with Presenile Dementia Is Localized to Chromosome 17 |
|
|
|
|
|
|
|
|
|
| Linkage of Bipolar Affective Disorder to Chromosome 18 Markers in a New Pedigree Series |
|
|
|
|
|
|
|
|
|
| Detection of Gene-Environment Interactions in Joint Segregation and Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan |
|
|
|
|
|
|
|
|
|
| Homogeneity of Kerato-Epithelin Codon 124 Mutations in Japanese Patients with Either of Two Types of Corneal Stromal Dystrophy |
|
|
|
|
|
|
|
|
|
| Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia-Susceptibility Locus at 5q21 |
|
|
|
|
|
|
|
|
|
| Effect of Genetic Heterogeneity and Assortative Mating on Linkage Analysis: A Simulation Study |
|
|
|
|
|
|
|
|
|
| Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities |
|
|
|
|
|
|
|
|
|
| Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots |
|
|
|
|
|
|
|
|
|