| 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 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Clinical Cancer Genetics: Risk Counseling and Management |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 63 |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 63 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 62 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 63 |
|
|
|
|
|
|
|
|
|
| The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X‐Chromosomal DNA |
|
|
|
|
|
|
|
|
|
| Significance Levels in Complex Inheritance |
|
|
|
|
|
|
|
|
|
| A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype‐Based Prediction of Metabolic Phenotype |
|
|
|
|
|
|
|
|
|
| Genetic Association of Apolipoprotein E with Age‐Related Macular Degeneration |
|
|
|
|
|
|
|
|
|
| Reply to Karunaratne and Elston |
|
|
|
|
|
|
|
|
|
| Subject Index for Volume 63 |
|
|
|
|
|
|
|
|
|
| This Month in the<b><i>Journal</i></b> |
|
|
|
|
|
|
|
|
|
| Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis |
|
|
|
|
|
|
|
|
|
| Employment Opportunities; Meetings; Workshops; Course; Genetic Counseling Certification; Immunogenetics Database; Mutation Panel |
|
|
|
|
|
|
|
|
|
| Statistical Evidence: A Likelihood Paradigm |
|
|
|
|
|
|
|
|
|
| <i>Molecular Diagnostics for the Clinical Laboratorian.</i>Edited by W. B. Coleman and G. J. Tsongalis |
|
|
|
|
|
|
|
|
|
| The Origins of Native Americans: Evidence from Anthropological Genetics |
|
|
|
|
|
|
|
|
|
| Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients |
|
|
|
|
|
|
|
|
|
| Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations |
|
|
|
|
|
|
|
|
|
| A Locus for Autosomal Recessive Hypodontia with Associated Dental Anomalies Maps to Chromosome 16q12.1 |
|
|
|
|
|
|
|
|
|
| Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15 |
|
|
|
|
|
|
|
|
|
| Worldwide Distribution of a Common Methylenetetrahydrofolate Reductase Mutation |
|
|
|
|
|
|
|
|
|
| Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders |
|
|
|
|
|
|
|
|
|
| Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA |
|
|
|
|
|
|
|
|
|
| Mitochondrial and Nuclear Genetic Relationships among Pacific Island and Asian Populations |
|
|
|
|
|
|
|
|
|
| A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency |
|
|
|
|
|
|
|
|
|
| Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly |
|
|
|
|
|
|
|
|
|
| Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number |
|
|
|
|
|
|
|
|
|
| Mechanisms of Cell Death in the Inherited Retinal Degenerations |
|
|
|
|
|
|
|
|
|
| Identification of Cryptic Rearrangements in Patients with 18q− Deletion Syndrome |
|
|
|
|
|
|
|
|
|
| Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin |
|
|
|
|
|
|
|
|
|
| A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy |
|
|
|
|
|
|
|
|
|
| Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Estimating African American Admixture Proportions by Use of Population-Specific Alleles |
|
|
|
|
|
|
|
|
|
| Are We Ready to Try to Cure Alkaptonuria? |
|
|
|
|
|
|
|
|
|
| Is the Bottleneck Cracked? |
|
|
|
|
|
|
|
|
|
| Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p |
|
|
|
|
|
|
|
|
|
| X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase |
|
|
|
|
|
|
|
|
|
| Support for a Chromosome 18p Locus Conferring Susceptibility to Functional Psychoses in Families with Schizophrenia, by Association and Linkage Analysis |
|
|
|
|
|
|
|
|
|
| mtDNA Haplogroup X: An Ancient Link between Europe/Western Asia and North America? |
|
|
|
|
|
|
|
|
|
| A Test Statistic to Detect Errors in Sib-Pair Relationships |
|
|
|
|
|
|
|
|
|
| Reply to Barbujani et al. |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of Human Leukocyte Antigen (HLA) Markers in Familial Psoriasis: Strong Disequilibrium Effects Provide Evidence for a Major Determinant in the HLA-B/-C Region |
|
|
|
|
|
|
|
|
|
| A De Novo Mutation (Gln2Stop) at the 5′ End of the SRY Gene Leads to Sex Reversal with Partial Ovarian Function |
|
|
|
|
|
|
|
|
|
| The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p |
|
|
|
|
|
|
|
|
|
| Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome |
|
|
|
|
|
|
|
|
|
| Linkage of Familial Hibernian Fever to Chromosome 12p13 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis |
|
|
|
|
|
|
|
|
|
| Association of MSX1 and TGFB3 with Nonsyndromic Clefting in Humans |
|
|
|
|
|
|
|
|
|
| Prenatal Screening for Cystic Fibrosis Carriers: An Economic Evaluation |
|
|
|
|
|
|
|
|
|
| A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1 |
|
|
|
|
|
|
|
|
|
| Molecular Analysis of Mutations in the CSB(ERCC6) Gene in Patients with Cockayne Syndrome |
|
|
|
|
|
|
|
|
|
| A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test |
|
|
|
|
|
|
|
|
|
| Haplotype Mapping of a Major Quantitative-Trait Locus for Fetal Hemoglobin Production, on Chromosome 6q23 |
|
|
|
|
|
|
|
|
|
| Mapping Genes That Underlie Ethnic Differences in Disease Risk: Methods for Detecting Linkage in Admixed Populations, by Conditioning on Parental Admixture |
|
|
|
|
|
|
✓ |
|
'ethnic differences', 'admixed populations', 'parental admixture' |
| Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain |
|
|
|
|
|
|
|
|
|
| The Sib Transmission/Disequilibrium Test is a Mantel-Haenszel Test |
|
|
|
|
|
|
|
|
|
| Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19 |
|
|
|
|
|
|
|
|
|
| Host Susceptibility to Cancer Progression |
|
|
|
|
|
|
|
|
|
| Imprinted Expression of SNRPN in Human Preimplantation Embryos |
|
|
|
|
|
|
|
|
|
| Reply to Shanske et al. |
|
|
|
|
|
|
|
|
|
| Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease |
|
|
|
|
|
|
|
|
|
| Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients |
|
|
|
|
|
|
|
|
|
| Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination |
|
|
|
|
|
|
|
|
|
| mtDNA Suggests Polynesian Origins in Eastern Indonesia |
|
|
|
|
|
|
|
|
|
| Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes |
|
|
|
|
|
|
|
|
|
| Ascertainment Corrections Based on Smaller Family Units |
|
|
|
|
|
|
|
|
|
| Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer |
|
|
|
|
|
|
|
|
|
| Reply to Chinnery et al. |
|
|
|
|
|
|
|
|
|
| Announcement11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
|
|
|
|
|
|
|
|
|
| Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome |
|
|
|
|
|
|
|
|
|
| The Power to Detect Linkage in Complex Disease by Means of Simple LOD-Score Analyses |
|
|
|
|
|
|
|
|
|
| A Huntington Disease–Like Neurodegenerative Disorder Maps to Chromosome 20p |
|
|
|
|
|
|
|
|
|
| Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients |
|
|
|
|
|
|
|
|
|
| Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p |
|
|
|
|
|
|
|
|
|
| Methods of Linkage Analysis—and the Assumptions Underlying Them |
|
|
|
|
|
|
|
|
|
| Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1 |
|
|
|
|
|
|
|
|
|
| A Novel Locus (RP24) for X-linked Retinitis Pigmentosa Maps to Xq26-27 |
|
|
|
|
|
|
|
|
|
| Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome |
|
|
|
|
|
|
|
|
|
| Statistical Evaluation of Age-at-Onset Anticipation: A New Test and Evaluation of Its Behavior in Realistic Applications |
|
|
|
|
|
|
|
|
|
| Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation |
|
|
|
|
|
|
|
|
|
| Direct Evidence for Suppression of Recombination within Two Pericentric Inversions in Humans: A New Sperm-FISH Technique |
|
|
|
|
|
|
|
|
|
| Prevalence of Mutations in TIGR/Myocilin in Patients with Adult and Juvenile Primary Open-Angle Glaucoma |
|
|
|
|
|
|
|
|
|
| The Shape of Life: Genes, Development, and the Evolution of Animal Form |
|
|
|
|
|
|
|
|
|
| A Simple Method for Analyzing Microsatellite Allele Image Patterns Generated from DNA Pools and Its Application to Allelic Association Studies |
|
|
|
|
|
|
|
|
|
| A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1 |
|
|
|
|
|
|
|
|
|
| Molecular Classification of the Inherited Hamartoma Polyposis Syndromes: Clearing the Muddied Waters |
|
|
|
|
|
|
|
|
|
| Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 |
|
|
|
|
|
|
|
|
|
| Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss |
|
|
|
|
|
|
|
|
|
| An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency |
|
|
|
|
|
|
|
|
|
| The Timing of Twinning: More Insights from X Inactivation |
|
|
|
|
|
|
|
|
|
| CAS, the Human Homologue of the Yeast Chromosome-Segregation Gene CSE1, in Proliferation, Apoptosis, and Cancer |
|
|
|
|
|
|
|
|
|
| Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24 |
|
|
|
|
|
|
|
|
|
| Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors |
|
|
|
|
|
|
|
|
|
| A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers |
|
|
|
|
|
|
✓ |
|
Irish Travellers |
| Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| Complex Segregation Analyses: Uses and Limitations |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Nanophthalmos (NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11 |
|
|
|
|
|
|
|
|
|
| One Fewer Worry for Survivors of Childhood Cancer |
|
|
|
|
|
|
|
|
|
| Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivato |
|
|
|
|
|
|
|
|
|
| A Gene for Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (EDA3) Maps to Chromosome 2q11-q13 |
|
|
|
|
|
|
|
|
|
| Systematic Analysis of hMSH2 and hMLH1 in Young Colon Cancer Patients and Controls |
|
|
|
|
|
|
|
|
|
| Genomewide Search for Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis): Mapping of Locus to Chromosome 16 (16q23-qter) |
|
|
|
|
|
|
|
|
|
| Using Neural Networks as an Aid in the Determination of Disease Status: Comparison of Clinical Diagnosis to Neural-Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystro |
|
|
|
|
|
|
|
|
|
| Inflation of Sibling Recurrence-Risk Ratio, Due to Ascertainment Bias and/or Overreporting |
|
|
|
|
|
|
|
|
|
| Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy |
|
|
|
|
|
|
|
|
|
| Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes |
|
|
|
|
|
|
|
|
|
| Absence of Linkage of Phonological Coding Dyslexia to Chromosome 6p23-p21.3 in a Large Family Data Set |
|
|
|
|
|
|
|
|
|
| Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit |
|
|
|
|
|
|
|
|
|
| Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants |
|
|
|
|
|
|
|
|
|
| Dihydropyrimidinase Deficiency: Structural Organization, Chromosomal Localization, and Mutation Analysis of the Human Dihydropyrimidinase Gene |
|
|
|
|
|
|
|
|
|
| Rett Syndrome: Confirmation of X-Linked Dominant Inheritance, and Localization of the Gene to Xq28 |
|
|
|
|
|
|
|
|
|
| The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry |
|
|
|
|
|
|
✓ |
|
Ashkenazic Jewish; Spanish Ancestry |
| Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1 |
|
|
|
|
|
|
|
|
|
| Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2 |
|
|
|
|
|
|
|
|
|
| Mutation Hot Spots in 5q31-Linked Corneal Dystrophies |
|
|
|
|
|
|
|
|
|
| Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine |
|
|
|
|
|
|
|
|
|
| Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population |
|
|
|
|
|
|
|
|
|
| Difficulties in the Estimation of Ethnic Affiliation |
|
|
|
|
|
|
|
|
|
| Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28 |
|
|
|
|
|
|
|
|
|
| Media Portrayals of Genetics |
|
|
|
|
|
|
|
|
|
| Genetic Evidence for the Proto-Austronesian Homeland in Asia: mtDNA and Nuclear DNA Variation in Taiwanese Aboriginal Tribes |
|
|
|
|
|
|
|
|
|
| Health, Life, and Disability Insurance and Hereditary Nonpolyposis Colorectal Cancer |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Robert Guthrie: The PKU Story |
|
|
|
|
|
|
|
|
|
| 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 ( |
|
|
|
|
|
|
|
|
|
| The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23 |
|
|
|
|
|
|
|
|
|
| Genetic Causes of Female Infertility: Targeted Mutagenesis in Mice |
|
|
|
|
|
|
|
|
|
| Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q |
|
|
|
|
|
|
|
|
|
| Measurement and Use of Total Plasma Homocysteine |
|
|
|
|
|
|
|
|
|
| Functionally Null Mutations in Patients with the cblG-Variant Form of Methionine Synthase Deficiency |
|
|
|
|
|
|
|
|
|
| Splice-Site Mutations: A Novel Genetic Mechanism of Crigler-Najjar Syndrome Type 1 |
|
|
|
|
|
|
|
|
|
| Autosomal Genomic Scan for Loci Linked to Obesity and Energy Metabolism in Pima Indians |
|
|
|
|
|
|
|
|
|
| The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population |
|
|
|
|
|
|
✓ |
|
Mediterranean population |
| An Association, in Adult Japanese, between the Occurrence of Rogue Cells among Cultured Lymphocytes (JC Virus Activity) and the Frequency of “Simple” Chromosomal Damage among the Lymphocytes of Person |
|
|
|
|
|
|
|
|
|
| Genetic Counseling and Prenatal Diagnosis for mtDNA Disease |
|
|
|
|
|
|
|
|
|
| Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31 |
|
|
|
|
|
|
|
|
|
| Author Index for Volume 62 |
|
|
|
|
|
|
|
|
|
| Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense |
|
|
|
|
|
|
|
|
|
| Susceptibility to Relapsing-Progressive Multiple Sclerosis Is Associated with Inheritance of Genes Linked to the Variable Region of the TcR β Locus: Use of Affected Family-Based Controls |
|
|
|
|
|
|
|
|
|
| A Model for Antagonistic Pleiotropic Gene Action for Mortality and Advanced Age |
|
|
|
|
|
|
|
|
|
| The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome |
|
|
|
|
|
|
|
|
|
| Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms |
|
|
|
|
|
|
|
|
|
| The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat |
|
|
|
|
|
|
|
|
|
| Nuclear Transport: Run by Ran? |
|
|
|
|
|
|
|
|
|
| Reply to Burghes |
|
|
|
|
|
|
|
|
|
| A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease |
|
|
|
|
|
|
|
|
|
| A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map |
|
|
|
|
|
|
|
|
|
| A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Drosophila Immune Responses as Models for Human Immunity |
|
|
|
|
|
|
|
|
|
| A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Steri |
|
|
|
|
|
|
|
|
|
| Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Fami |
|
|
|
|
✓ |
|
|
|
European and Algerian Families |
| Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations |
✓ |
|
|
|
|
|
✓ |
|
Japanese |
| A Discordant-Sibship Test for Disequilibrium and Linkage: No Need for Parental Data |
|
|
|
|
|
|
|
|
|
| DNA Polymorphisms in Two Paraoxonase Genes (PON1 and PON2) Are Associated with the Risk of Coronary Heart Disease |
|
|
|
|
|
|
|
|
|
| A BRCA1 Nonsense Mutation Causes Exon Skipping |
|
|
|
|
|
|
|
|
|
| Cytosine Methylation and the Unequal Developmental Potentials of the Oocyte and Sperm Genomes |
|
|
|
|
|
|
|
|
|
| Missense and Nonsense Mutations in the Lysosomal α-Mannosidase Gene (MANB) in Severe and Mild Forms of α-Mannosidosis |
|
|
|
|
|
|
|
|
|
| Transmission Disequilibrium, Family Controls, and Great Expectations |
|
|
|
|
|
|
|
|
|
| Detecting Marker-Disease Association by Testing for Hardy-Weinberg Disequilibrium at a Marker Locus |
|
|
|
|
|
|
|
|
|
| Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families |
|
|
|
|
|
|
|
|
|
| Mutation Analysis of UBE3A in Angelman Syndrome Patients |
|
|
|
|
|
|
|
|
|
| [ITAL]Statistical Evidence: A Likelihood Paradigm.[/ITAL] By Richard Royall. London: Chapman & Hall, 1997. Pp. 191. $64.95 |
|
|
|
|
|
|
|
|
|
| A Chromosomal Deletion Map of Human Malformations |
|
|
|
|
|
|
|
|
|
| A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene |
|
|
|
|
|
|
|
|
|
| The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster |
|
|
|
|
|
|
|
|
|
| Genetic Instabilities and Hereditary Neurological Diseases |
|
|
|
|
|
|
|
|
|
| The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure |
|
|
|
|
|
|
|
|
|
| Causes, Effects, and Constraints in the Genetics of Human Longevity |
|
|
|
|
|
|
|
|
|
| HLA and Pregnancy: The Paradox of the Fetal Allograft |
|
|
|
|
|
|
|
|
|
| Genomic Imprinting |
|
|
|
|
|
|
|
|
|
| mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe |
|
|
|
|
|
|
|
|
|
| The Tumor-Suppressor Function of E-Cadherin |
|
|
|
|
|
|
|
|
|
| Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees |
|
|
|
|
|
|
|
|
|
| Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome |
|
|
|
|
|
|
|
|
|
| Trading Genes along the Silk Road: mtDNA Sequences and the Origin of Central Asian Populations |
|
|
|
|
|
|
|
|
|
| Flexing DNA: HMG-Box Proteins and Their Partners |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| A Susceptibility Locus for Bipolar Affective Disorder on Chromosome 4q35 |
|
|
|
|
|
|
|
|
|
| Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome |
|
|
|
|
|
|
|
|
|
| ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer |
|
|
|
|
|
|
|
|
|
| Mutational Mechanisms for Generating Microsatellite Allele-Frequency Distributions: An Analysis of 4,558 Markers |
|
|
|
|
|
|
|
|
|
| Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Typ |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region |
|
|
|
|
|
|
|
|
|
| Founder BRCA1 and BRCA2 Mutations in French Canadian Breast and Ovarian Cancer Families |
|
|
|
|
|
|
✓ |
|
French Canadian |
| Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q |
|
|
|
|
|
|
|
|
|
| Founder Effect at PGL1 in Hereditary Head and Neck Paraganglioma Families from The Netherlands |
|
|
|
|
|
|
|
|
|
| Familial Disclosure in Defiance of Nonconsent |
|
|
|
|
|
|
|
|
|
| Do Human Chromosomal Bands 16p13 and 22q11-13 Share Ancestral Origins? |
|
|
|
|
|
|
|
|
|
| Allele Identical by Descent Sharing at Any Point of a Chromosome of a Sib Pair |
|
|
|
|
|
|
|
|
|
| Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene |
|
|
|
|
|
|
|
|
|
| Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype |
|
|
|
|
|
|
|
|
|
| Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A |
|
|
|
|
|
|
|
|
|
| Replicative Senescence in the Immune System: Impact of the Hayflick Limit on T-Cell Function in the Elderly |
|
|
|
|
|
|
|
|
|
| Mixed Messages: Presentation of Information in Cystic Fibrosis–Screening Pamphlets |
|
|
|
|
|
|
|
|
|
| A Model of Elegance |
|
|
|
|
|
|
|
|
|
| A Second Locus for Familial High Myopia Maps to Chromosome 12q |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11.4 and Definition of a Locus Distinct from RP2 and RP3 |
|
|
|
|
|
|
|
|
|
| Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling |
|
|
|
|
|
|
|
|
|
| Classification of Familial Adenomatous Polyposis: A Diagnostic Nightmare |
|
|
|
|
|
|
|
|
|
| 6-n-Propylthiouracil: A Genetic Marker for Taste, with Implications for Food Preference and Dietary Habits |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Reply to Hofmann et al. |
|
|
|
|
|
|
|
|
|
| Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43 |
|
|
|
|
|
|
|
|
|
| Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 |
|
|
|
|
|
|
|
|
|
| The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA |
|
|
|
|
|
|
|
|
|
| Commitment to X Inactivation Precedes the Twinning Event in Monochorionic MZ Twins |
|
|
|
|
|
|
|
|
|
| Marshall Syndrome and a Defect at the COL11A1 Locus |
|
|
|
|
|
|
|
|
|
| Paraoxonase-Gene Polymorphisms Associated with Coronary Heart Disease: Support for the Oxidative Damage Hypothesis? |
|
|
|
|
|
|
|
|
|
| Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation |
|
|
|
|
|
|
|
|
|
| De Novo mtDNA nt 8993 (T→G) Mutation Resulting in Leigh Syndrome |
|
|
|
|
|
|
|
|
|
| A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus |
|
|
|
|
|
|
|
|
|
| Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families |
|
|
|
|
|
|
|
|
|
| Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles |
|
|
|
|
|
|
|
|
|
| A Common Genetic Mechanism Determines Plasma Apolipoprotein B Levels and Dense LDL Subfraction Distribution in Familial Combined Hyperlipidemia |
|
|
|
|
|
|
|
|
|
| Evidence for at Least Two Major Loci Influencing Human Fatness |
|
|
|
|
|
|
|
|
|
| HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q |
|
|
|
|
|
|
|
|
|
| Likelihood Calculation Conditional on Observed Pedigree Structure |
|
|
|
|
|
|
|
|
|
| Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene |
|
|
|
|
|
|
|
|
|
| On the Probabilities of Identity States in Permutable Populations |
|
|
|
|
|
|
|
|
|
| Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation |
|
|
|
|
|
|
|
|
|
| Reply to Nelkin and Lindee |
|
|
|
|
|
|
|
|
|
| Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses |
|
|
|
|
|
|
|
|
|
| Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9 |
|
|
|
|
|
|
|
|
|
| Mutation in Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D |
|
|
|
|
|
|
|
|
|
| Editorial Reviewers for 1998 |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Reply to Gill |
|
|
|
|
|
|
|
|
|
| The Hemochromatosis 845 G→A and 187 C→G Mutations: Prevalence in Non-Caucasian Populations |
✓ |
|
|
|
|
|
|
|
|
| Genetic Disorders and Pregnancy Outcome |
|
|
|
|
|
|
|
|
|
| Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects |
|
|
|
|
|
|
|
|
|
| Bayesian Linkage Analysis, or: How I Learned to Stop Worrying and Love the Posterior Probability of Linkage |
|
|
|
|
|
|
|
|
|
| Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| <i>Clinical Cancer Genetics: Risk Counseling and Management.</i>By Ken Offit |
|
|
|
|
|
|
|
|
|
| Molecular Cytogenetic Detection of Confined Gonadal Mosaicism in a Conceptus with Trisomy 16 Placental Mosaicism |
|
|
|
|
|
|
|
|
|
| Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency |
|
|
|
|
|
|
|
|
|
| Association and Linkage of the Dopamine Transporter Gene and Attention-Deficit Hyperactivity Disorder in Children: Heterogeneity owing to Diagnostic Subtype and Severity |
|
|
|
|
|
|
|
|
|
| The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics |
|
|
|
|
|
|
|
|
|
| The 8765delAG Mutation in BRCA2 Is Common among Jews of Yemenite Extraction |
|
|
|
|
|
|
✓ |
|
Jews of Yemenite Extraction |
| Fine Mapping of the Diabetes-Susceptibility Locus, on Chromosome 11q13 |
|
|
|
|
|
|
|
|
|
| Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21 |
|
|
|
|
|
|
|
|
|
| Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Deletions within COL7A1 Exons Distant from Consensus Splice Sites Alter Splicing and Produce Shortened Polypeptides in Dominant Dystrophic Epidermolysis Bullosa |
|
|
|
|
|
|
|
|
|
| Laboratory Guidelines for Huntington Disease Genetic Testing |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Rethinking Risks to Human Subjects in Genetic Research |
|
|
|
|
|
|
|
|
|
| Development and Maintenance of Ear Innervation and Function: Lessons from Mutations in Mouse and Man |
|
|
|
|
|
|
|
|
|
| Malaria in Humans: Plasmodium falciparum Blood Infection Levels Are Linked to Chromosome 5q31-q33 |
|
|
|
|
|
|
|
|
|
| Chinese Geneticists' Views of Ethical Issues in Genetic Testing and Screening: Evidence for Eugenics in China |
|
|
|
|
|
|
|
|
|
| Methylation Levels at Selected CpG Sites in the Factor VIII and FGFR3 Genes, in Mature Female and Male Germ Cells: Implications for Male-Driven Evolution |
|
|
|
|
|
|
|
|
|
| Power, Mode of Inheritance, and Type I Error in Lod Scores and Affecteds-Only Methods: Reply to Kruglyak |
|
|
|
|
|
|
|
|
|
| Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation |
|
|
|
|
|
|
|
|
|
| Pedigrees—Publish? or Perish the Thought? |
|
|
|
|
|
|
|
|
|
| A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome |
|
|
|
|
|
|
|
|
|
| Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality |
|
|
|
|
|
|
|
|
|
| Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 |
|
|
|
|
|
|
|
|
|
| Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis |
|
|
|
|
|
|
|
|
|
| Linkage and Association between Inflammatory Bowel Disease and a Locus on Chromosome 12 |
|
|
|
|
|
|
|
|
|
| Evidence for a Common Ethnic Origin of Cystic Fibrosis Mutation 3120+1G→A in Diverse Populations |
|
|
|
|
|
|
|
|
|
| Cystic Fibrosis Transmembrane-Conductance Regulator Mutations among African Americans |
|
|
|
|
|
|
✓ |
|
African Americans |
| A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene |
|
|
|
|
|
|
|
|
|
| Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis |
|
|
|
|
|
|
|
|
|
| Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter |
|
|
|
|
|
|
|
|
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 |
|
|
|
|
|
|
|
|
|
| Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides |
|
|
|
|
|
|
|
|
|
| Likelihood Analysis of Disequilibrium Mapping, and Related Problems |
|
|
|
|
|
|
|
|
|
| A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations |
|
|
|
|
|
|
|
|
|
| Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families |
|
|
|
|
|
|
|
|
|
| Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families |
|
|
|
|
|
|
|
|
|
| Mapping Genes by Drift-Generated Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein Lipase |
|
|
|
|
|
|
|
|
|
| Multiple Phenotype Modeling in Gene-Mapping Studies of Quantitative Traits: Power Advantages |
|
|
|
|
|
|
|
|
|
| A Comparative Study of Sibship Tests of Linkage and/or Association |
|
|
|
|
|
|
|
|
|
| Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database |
|
|
|
|
|
|
|
|
|
| Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic) |
|
|
|
|
|
|
|
|
|
| Repeat Expansion–Detection Analysis of Telomeric Uninterrupted (TTAGGG)n Arrays |
|
|
|
|
|
|
|
|
|
| A Gene for Meckel Syndrome Maps to Chromosome 11q13 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Pero |
|
|
|
|
|
|
|
|
|
| Mutations of the RET-GDNF Signaling Pathway in Ondine's Curse |
|
|
|
|
|
|
|
|
|
| A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset |
|
|
|
|
|
|
|
|
|
| A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic |
|
|
|
|
|
|
|
|
|
| On the Probability of Neanderthal Ancestry |
|
|
|
|
|
|
|
|
|
| Reply to Loudianos et al. |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Localization of the Gene for Congenital Dyserythropoietic Anemia Type I to a <1-cM Interval on Chromosome 15q15.1-15.3 |
|
|
|
|
|
|
|
|
|
| Reply to Migeon and Haisley-Royster |
|
|
|
|
|
|
|
|
|
| Mitochondrial Control-Region Sequence Variation in Aboriginal Australians |
|
|
|
|
|
|
|
|
|
| The Tpr Protein: Linking Structure and Function in the Nuclear Interior? |
|
|
|
|
|
|
|
|
|
| Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness |
|
|
|
|
|
|
|
|
|
| Maternal Mosaicism for a Second Mutational Event in a Type I Spinal Muscular Atrophy Family |
|
|
|
|
|
|
|
|
|
| Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria |
|
|
|
|
|
|
|
|
|
| Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region |
|
|
|
|
|
|
|
|
|
| Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study |
|
|
|
|
|
|
|
|
|
| Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations |
|
|
|
|
|
|
|
|
|
| Inheritance of Astigmatism: Evidence for a Major Autosomal Dominant Locus |
|
|
|
|
|
|
|
|
|
| Mutations in Btk in Patients with Presumed X-Linked Agammaglobulinemia |
|
|
|
|
|
|
|
|
|
| A Model Agreement for Genetic Research in Socially Identifiable Populations |
|
|
|
|
|
|
|
|
|
| Group Identity and Human Diversity: Keeping Biology Straight from Culture |
|
|
|
|
|
|
|
|
|
| Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders |
|
|
|
|
|
|
|
|
|
| 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 ( |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of Chromosome 1q Markers in 136 Prostate Cancer Families |
|
|
|
|
|
|
|
|
|
| A Log-Linear Approach to Case-Parent–Triad Data: Assessing Effects of Disease Genes That Act Either Directly or through Maternal Effects and That May Be Subject to Parental Imprinting |
|
|
|
|
|
|
|
|
|
| CTNS Mutations in an American-Based Population of Cystinosis Patients |
|
|
|
|
|
|
|
|
|
| A New Graves Disease–Susceptibility Locus Maps To Chromosome 20q11.2 |
|
|
|
|
|
|
|
|
|
| Strategies for Rare-Event Detection: An Approach for Automated Fetal Cell Detection in Maternal Blood |
|
|
|
|
|
|
|
|
|
| Response to Kruglyak |
|
|
|
|
|
|
|
|
|
| "Well-Bear and Well-Rear" in China? |
|
|
|
|
|
|
|
|
|
| Determinism and Mass-Media Portrayals of Genetics |
|
|
|
|
|
|
|
|
|
| Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium Analysis in a Recently Founded Population: Evaluation of the Variegate Porphyria Founder in South African Afrikaners |
|
|
|
|
|
|
✓ |
|
South African Afrikaners |
| Pharmacogenetics of Cancer Therapy: Getting Personal |
|
|
|
|
|
|
|
|
|
| A Gene Involved in XY Sex Reversal Is Located on Chromosome 9, Distal to Marker D9S1779 |
|
|
|
|
|
|
|
|
|
| Male Infertility and the Genetics of Spermatogenesis |
|
|
|
|
|
|
|
|
|
| Maximum-Likelihood Expression of the Transmission/Disequilibrium Test and Power Considerations |
|
|
|
|
|
|
|
|
|
| Structure, Organization, and Dynamics of Promyelocytic Leukemia Protein Nuclear Bodies |
|
|
|
|
|
|
|
|
|
| The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1 |
|
|
|
|
|
|
|
|
|
| mtDNA Mutations That Cause Optic Neuropathy: How Do We Know? |
|
|
|
|
|
|
|
|
|
| Reply to Callen |
|
|
|
|
|
|
|
|
|
| Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35 |
|
|
|
|
|
|
|
|
|
| Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles |
|
|
|
|
|
|
|
|
|
| Age-Dependent Inclusion of Sex Chromosomes in Lymphocyte Micronuclei of Man |
|
|
|
|
|
|
|
|
|
| Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37 |
|
|
|
|
|
|
|
|
|
| An Analysis of Linkage Disequilibrium in the Interleukin-1 Gene Cluster, Using a Novel Grouping Method for Multiallelic Markers |
|
|
|
|
|
|
|
|
|
| Genetics of Vitamin D 1α-Hydroxylase Deficiency in 17 Families |
|
|
|
|
|
|
|
|
|
| No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended Pedigrees |
|
|
|
|
|
|
|
|
|
| Segregation of a PRKCG Mutation in Two RP11 Families |
|
|
|
|
|
|
|
|
|
| Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B |
|
|
|
|
|
|
|
|
|
| DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model |
|
|
|
|
|
|
|
|
|
| Renpenning Syndrome Maps to Xp11 |
|
|
|
|
|
|
|
|
|
| An Autosomal Genomic Scan for Loci Linked to Type II Diabetes Mellitus and Body-Mass Index in Pima Indians |
|
|
|
|
|
|
|
|
|
| Absolute Pitch: An Approach for Identification of Genetic and Nongenetic Components |
|
|
|
|
|
|
|
|
|
| Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test |
|
|
|
|
|
|
|
|
|
| Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers |
|
|
|
|
|
|
|
|
|
| Robustness and Power of the Maximum-Likelihood–Binomial and Maximum-Likelihood–Score Methods, in Multipoint Linkage Analysis of Affected-Sibship Data |
|
|
|
|
|
|
|
|
|
| Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene |
|
|
|
|
|
|
|
|
|
| Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia |
|
|
|
|
|
|
|
|
|
| Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli |
|
|
|
|
|
|
|
|
|
| Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Examination of Factors Associated with Instability of the FMR1 CGG Repeat |
|
|
|
|
|
|
|
|
|
| Familial Eosinophilia Maps to the Cytokine Gene Cluster on Human Chromosomal Region 5q31-q33 |
|
|
|
|
|
|
|
|
|
| The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia |
|
|
|
|
|
|
|
|
|
| OA1 Mutations and Deletions in X-Linked Ocular Albinism |
|
|
|
|
|
|
|
|
|
| Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations |
|
|
|
|
|
|
✓ |
|
Amerindian |
| A Breast Cancer Patient of Scottish Descent with Germ-Line Mutations in BRCA1 and BRCA2 |
|
|
|
|
|
|
✓ |
|
Scottish Descent; Scottish Descent |
| Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients |
|
|
|
|
|
|
|
|
|
| mtDNA Analysis of a Prehistoric Oneota Population: Implications for the Peopling of the New World |
|
|
|
|
|
|
|
|
|
| Evidence for Linkage of Human Primary Systemic Carnitine Deficiency with D5S436: A Novel Gene Locus on Chromosome 5q |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Gene Therapy Protocols |
|
|
|
|
|
|
|
|
|
| Candidate-Gene Studies of the Atherogenic Lipoprotein Phenotype: A Sib-Pair Linkage Analysis of DZ Women Twins |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes |
|
|
|
|
|
|
✓ |
|
Ashkenazi |
| On the Probability of Identity States in Permutable Populations: Reply to Cannings |
|
|
|
|
|
|
|
|
|
| X-Chromosome Inactivation Spreads Itself: Effects in Autosomes |
|
|
|
|
|
|
|
|
|
| Molecular Basis for Hypertension in the “Type II Variant” of Apparent Mineralocorticoid Excess |
|
|
|
|
|
|
|
|
|
| An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects |
|
|
|
|
|
|
|
|
|
| Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity |
|
|
|
|
|
|
✓ |
|
Italian |
| Alternative Interpretation of Reported Paracentric Inversion |
|
|
|
|
|
|
|
|
|
| Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype |
|
|
|
|
|
|
|
|
|
| Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness |
|
|
|
|
|
|
|
|
|
| An Alternative Route for Multistep Tumorigenesis in a Novel Case of Hereditary Renal Cell Cancer and a t(2;3)(q35;q21) Chromosome Translocation |
|
|
|
|
|
|
|
|
|
| PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Optimal Ascertainment Strategies to Detect Linkage to Common Disease Alleles |
|
|
|
|
|
|
|
|
|
| Identification of PEX10, the Gene Defective in Complementation Group 7 of the Peroxisome-Biogenesis Disorders |
|
|
|
|
|
|
|
|
|
| Haplotype Analysis in Icelandic Families Defines a Minimal Interval for the Macular Corneal Dystrophy Type I Gene |
|
|
|
|
|
|
|
|
|
| Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome |
|
|
|
|
|
|
|
|
|
| NTBC and Alkaptonuria |
|
|
|
|
|
|
|
|
|
| Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria |
|
|
|
|
|
|
|
|
|
| INVITED EDITORIAL The Genetics of Cataract: Our Vision Becomes Clearer |
|
|
|
|
|
|
|
|
|
| Reply to Inglehearn |
|
|
|
|
|
|
|
|
|
| Genome Screens Using Linkage Disequilibrium Tests: Optimal Marker Characteristics and Feasibility |
|
|
|
|
|
|
|
|
|
| Molecular Prophets of Death in the Fly |
|
|
|
|
|
|
|
|
|
| Culture, Kinship and Genes: Towards Cross-Cultural Genetics |
|
|
|
|
|
|
|
|
|
| A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype |
|
|
|
|
|
|
|
|
|
| Evidence for Linkage of Spelling Disability to Chromosome 15 |
|
|
|
|
|
|
|
|
|
| Molecular Genetics of the Caveolin Gene Family: Implications for Human Cancers, Diabetes, Alzheimer Disease, and Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2 |
|
|
|
|
|
|
|
|
|
| Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium and Gene Mapping: An Empirical Least-Squares Approach |
|
|
|
|
|
|
|
|
|
| Evidence for Paleolithic and Neolithic Gene Flow in Europe |
|
|
|
|
|
|
|
|
|
| Evidence for Autosomal Dominant Inheritance of Prostate Cancer |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| mtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World |
|
|
|
|
|
|
|
|
|
| Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite |
|
|
|
|
|
|
|
|
|
| Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome |
|
|
|
|
|
|
|
|
|
| Molecular Analysis of 9p Deletions Associated with XY Sex Reversal: Refining the Localization of a Sex-Determining Gene to the Tip of the Chromosome |
|
|
|
|
|
|
|
|
|
| Uniparental Disomies in Unselected Populations |
|
|
|
|
|
|
|
|
|
| Incorporating Genotypes of Relatives into a Test of Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32 |
|
|
|
|
|
|
|
|
|
| Mitochondrial Dysfunction in Idiopathic Parkinson Disease |
|
|
|
|
|
|
|
|
|
| Partial Triplication of mtDNA in Maternally Transmitted Diabetes Mellitus and Deafness |
|
|
|
|
|
|
|
|
|
| Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome |
|
|
|
|
|
|
|
|
|
| Diversity of Cystic Fibrosis Mutation-Screening Practices |
|
|
|
|
|
|
|
|
|
| Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome 9q32-q34.3 |
|
|
|
|
|
|
|
|
|
| European Y-Chromosomal Lineages in Polynesians: A Contrast to the Population Structure Revealed by mtDNA |
|
|
|
|
✓ |
|
|
|
European Y-Chromosomal Lineages in Polynesians |
| Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 |
|
|
|
|
|
|
|
|
|
| Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families |
|
|
|
|
|
|
|
|
|
| Linkage Thresholds for Two-stage Genome Scans |
|
|
|
|
|
|
|
|
|
| Simple, Robust Linkage Tests for Affected Sibs |
|
|
|
|
|
|
|
|
|
| Mapping of Complex Traits by Single-Nucleotide Polymorphisms |
|
|
|
|
|
|
|
|
|
| Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria) |
|
|
|
|
|
|
|
|
|
| From Amplification to Gene in Thyroid Cancer: A High-Resolution Mapped Bacterial-Artificial-Chromosome Resource for Cancer Chromosome Aberrations Guides Gene Discovery after Comparative Genome Hybridi |
|
|
|
|
|
|
|
|
|
| Identification of Genetic Markers Associated with Gilles de la Tourette Syndrome in an Afrikaner Population |
|
|
|
|
|
|
✓ |
|
Afrikaner population |
| How Sib Pairs Reveal Linkage |
|
|
|
|
|
|
|
|
|
| Disequilibrium Likelihoods for Fine-Scale Mapping of a Rare Allele |
|
|
|
|
|
|
|
|
|
| Reply to Laird et al. |
|
|
|
|
|
|
|
|
|
| A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| Genotype-Phenotype Correspondence in Sanfilippo Syndrome Type B |
|
|
|
|
|
|
|
|
|
| Comparative Genetics of Resistance to Viruses |
|
|
|
|
|
|
|
|
|
| A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships |
|
|
|
|
|
|
|
|
|
| Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2 |
|
|
|
|
|
|
|
|
|
| Topoisomerase I and II Consensus Sequences in a 17-kb Deletion Junction of the COL4A5 and COL4A6 Genes and Immunohistochemical Analysis of Esophageal Leiomyomatosis Associated with Alport Syndrome |
|
|
|
|
|
|
|
|
|
| Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus |
|
|
|
|
|
|
|
|
|
| Mapping of a Congenital Microcoria Locus to 13q31-q32 |
|
|
|
|
|
|
|
|
|
| Instant Recognition: The Genetics of Pitch Perception |
|
|
|
|
|
|
|
|
|
| Families with Familial Combined Hyperlipidemia and Families Enriched for Coronary Artery Disease Share Genetic Determinants for the Atherogenic Lipoprotein Phenotype |
|
|
|
|
|
|
|
|
|
| Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome |
|
|
|
|
|
|
|
|
|
| Efficient Strategies for Genome Scanning with Affected Sib Pairs |
|
|
|
|
|
|
|
|
|
| Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant? |
|
|
|
|
|
|
|
|
|
| A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA |
|
|
|
|
|
|
|
|
|
| Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13 |
|
|
|
|
|
|
|
|
|
| Somatic Mosaicism: A Common Cause of Classic Disease in Tumor‐Prone Syndromes? Lessons from Type 2 Neurofibromatosis |
|
|
|
|
|
|
|
|
|
| Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21 |
|
|
|
|
|
|
|
|
|
| Characterization of Ancestral and Derived Y-Chromosome Haplotypes of New World Native Populations |
|
|
|
|
|
|
|
|
|
| Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity |
|
|
|
|
|
|
|
|
|
| Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum |
|
|
|
|
|
|
|
|
|
| Reply to Weeks and Sinsheimer |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| The Centromere |
|
|
|
|
|
|
|
|
|
| Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH |
|
|
|
|
|
|
|
|
|
| Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders |
|
|
|
|
|
|
|
|
|
| Genome Search in Celiac Disease |
|
|
|
|
|
|
|
|
|
| Marker Selection for the Transmission/Disequilibrium Test, in Recently Admixed Populations |
|
|
|
|
|
|
|
|
|
| HLA and Mate Choice |
|
|
|
|
|
|
|
|
|
| Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat |
|
|
|
|
|
|
|
|
|
| Use of Parents, Sibs, and Unrelated Controls for Detection of Associations between Genetic Markers and Disease |
|
|
|
|
|
|
|
|
|
| Estimation of Pairwise Relationships in the Presence of Genotyping Errors |
|
|
|
|
|
|
|
|
|
| Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis |
|
|
|
|
|
|
|
|
|
| Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution |
|
|
|
|
|
|
|
|
|
| Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity |
|
|
|
|
|
|
|
|
|
| Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig |
|
|
|
|
|
|
|
|
|
| Search for a Founder Mutation in Idiopathic Focal Dystonia from Northern Germany |
|
|
|
|
|
|
|
|
|
| The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II |
|
|
|
|
|
|
✓ |
|
African, African American |
| Fetal DNA in Maternal Plasma: The Plot Thickens and the Placental Barrier Thins |
|
|
|
|
|
|
|
|
|
| Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations |
|
|
|
|
|
|
|
|
|
| New Aspects of an Old Theme: The Genetic Basis of Human Color Vision |
|
|
|
|
|
|
|
|
|
| Reply to Brenner |
|
|
|
|
|
|
|
|
|
| A Triplet Repeat on 17q Accounts for Most Expansions Detected by the Repeat-Expansion–Detection Technique |
|
|
|
|
|
|
|
|
|
| Reply to Merz et al. |
|
|
|
|
|
|
|
|
|
| A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24 |
|
|
|
|
|
|
|
|
|
| A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors |
|
|
|
|
|
|
|
|
|
| Professional Disclosure of Familial Genetic Information |
|
|
|
|
|
|
|
|
|
| NAGLU Mutations Underlying Sanfilippo Syndrome Type B |
|
|
|
|
|
|
|
|
|
| Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals |
|
|
|
|
|
|
|
|
|
| Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait |
|
|
|
|
|
|
|
|
|
| Reply to Mackenzie |
|
|
|
|
|
|
|
|
|
| Coiled Bodies and Gems: Janus or Gemini? |
|
|
|
|
|
|
|
|
|
| Heterogeneity in World Distribution of the Thermolabile C677T Mutation in 5,10-Methylenetetrahydrofolate Reductase |
|
|
|
|
|
|
|
|
|
| Reply to Curtis |
|
|
|
|
|
|
|
|
|
| Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics |
|
|
|
|
|
|
|
|
|
| Variability in Immune Response to Pathogens: Using Measles Vaccine to Probe Immunogenetic Determinants of Response |
|
|
|
|
|
|
|
|
|
| Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia |
|
|
|
|
|
|
|
|
|
| Homozygosity Mapping of a Gene Responsible for Gelatinous Drop–like Corneal Dystrophy to Chromosome 1p |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Orthostatic Hypotensive Disorder Maps to Chromosome 18q |
|
|
|
|
|
|
|
|
|
| The Effect of Family Structure on Linkage Tests Using Allelic Association |
|
|
|
|
|
|
|
|
|
| A Causative Relationship between Mutant IFNgR1 Alleles and Impaired Cellular Response to IFNγ in a Compound Heterozygous Child |
|
|
|
|
|
|
|
|
|
| LOD Scores, Location Scores, and X-Linked Cone Dystrophy |
|
|
|
|
|
|
|
|
|
| Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family |
|
|
|
|
|
|
|
|
|
| Evidence for a Novel Osteosarcoma Tumor-Suppressor Gene in the Chromosome 18 Region Genetically Linked with Paget Disease of Bone |
|
|
|
|
|
|
|
|
|
| Significance Levels in Complex Inheritance |
|
|
|
|
|
|
|
|
|
| A Defect in the Regional Deposition of Adipose Tissue (Partial Lipodystrophy) Is Encoded by a Gene at Chromosome 1q |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis |
|
|
|
|
|
|
|
|
|
| A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1 |
|
|
|
|
|
|
|
|
|
| Some Underlooked Properties of the Multifactorial/Threshold Model |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Genetic Skin Disorders |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Mitochondria and Free Radicals in Neurodegenerative Diseases |
|
|
|
|
|
|
|
|
|
| A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22 |
|
|
|
|
|
|
|
|
|
| Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13 |
|
|
|
|
|
|
|
|
|
| The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36 |
|
|
|
|
|
|
|
|
|
| Discriminating between True and False-Positive Peaks in a Genomewide Linkage Scan, by Use of the Peak Length |
|
|
|
|
|
|
|
|
|
| X Chromosome Inactivation in Carriers of Barth Syndrome |
|
|
|
|
|
|
|
|
|
| Molecular Diagnostics for the Clinical Laboratorian |
|
|
|
|
|
|
|
|
|
| The Genetics of Cellular Senescence |
|
|
|
|
|
|
|
|
|
| Anticipation in Familial Hodgkin Lymphoma |
|
|
|
|
|
|
|
|
|
| Prenatal Diagnosis and Carrier Detection for a Point Mutation in UBE3A Causing Angelman Syndrome |
|
|
|
|
|
|
|
|
|
| Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis |
|
|
|
|
|
|
|
|
|
| Genetic Heterogeneity of Mannose-Binding Proteins: The Jekyll and Hyde of Innate Immunity? |
|
|
|
|
|
|
|
|
|
| Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease) |
|
|
|
|
|
|
|
|
|
| Evidence from Human Oocytes for a Genetic Bottleneck in an mtDNA Disease |
|
|
|
|
|
|
|
|
|
| Handbook of Psychiatric Genetics |
|
|
|
|
|
|
|
|
|
| Consanguinity and Relative-Pair Methods for Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43 |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium Mapping of the Gene for Margarita Island Ectodermal Dysplasia (ED4) to 11q23 |
|
|
|
|
|
|
|
|
|
| Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis |
|
|
|
|
|
|
|
|
|
| Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families |
|
|
|
|
|
|
✓ |
|
Finnish |
| Nm23-H1: Genetic Alterations and Expression Patterns in Tumor Metastasis |
|
|
|
|
|
|
|
|
|