| Erratum |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome |
|
|
|
|
|
|
|
|
|
| Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV |
|
|
|
|
|
|
|
|
|
| The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes |
|
|
|
|
|
|
|
|
|
| Improved Inference of Relationship for Pairs of Individuals |
|
|
|
|
|
|
|
|
|
| Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease |
|
|
|
|
|
|
|
|
|
| Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix |
|
|
|
|
|
|
|
|
|
| Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever |
|
|
|
|
|
|
|
|
|
| The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci |
|
|
|
|
|
|
|
|
|
| Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 |
|
|
|
|
|
|
|
|
|
| Tracing European Founder Lineages in the Near Eastern mtDNA Pool |
|
|
|
|
✓ |
|
|
|
European Founder Lineages |
| Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis |
|
|
|
|
|
|
|
|
|
| High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots |
|
|
|
|
|
|
|
|
|
| General Equations for Pt, Ps, and the Power of the TDT and the Affected–Sib-Pair Test |
|
|
|
|
|
|
|
|
|
| Reply to Kong and Nicolae |
|
|
|
|
|
|
|
|
|
| The Promise and Pitfalls of Telomere Region–Specific Probes |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy |
|
|
|
|
|
|
|
|
|
| Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma |
|
|
|
|
|
|
|
|
|
| Performance of Markov Chain–Monte Carlo Approaches for Mapping Genes in Oligogenic Models with an Unknown Number of Loci |
|
|
|
|
|
|
|
|
|
| Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America |
|
|
|
|
|
|
|
|
|
| Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia |
|
|
✓ |
|
|
|
✓ |
|
Amerind; Sephardic |
| A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families* |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| Pitfalls in Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| On a Randomization Procedure |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Asymmetries in the Maternal and Paternal Genetic Histories of Colombian Populations |
|
|
|
|
|
|
|
|
|
| Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9 |
|
|
|
|
|
|
|
|
|
| Localization of a Small Genomic Region Associated with Elevated ACE |
|
|
|
|
|
|
|
|
|
| A Second-Generation Genomewide Screen for Asthma-Susceptibility Alleles in a Founder Population |
|
|
|
|
|
|
|
|
|
| A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy |
|
|
|
|
|
|
|
|
|
| Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Mutations of the<i>SCO1</i>Gene in Mitochondrial Cytochrome<i>c</i>Oxidase Deficiency with Neonatal‐Onset Hepatic Failure and Encephalopathy |
|
|
|
|
|
|
|
|
|
| A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26‐q27 |
|
|
|
|
|
|
|
|
|
| Linkage Analysis in the Presence of Errors I: Complex‐Valued Recombination Fractions and Complex Phenotypes and Linkage Analysis in the Presence of Errors II: Marker‐Locus Genotyping Errors Modeled wi |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Relationship between the Sibling Recurrence Risk‐Ratio and Genotype Relative Risk |
|
|
|
|
|
|
|
|
|
| Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span |
|
|
|
|
|
|
|
|
|
| The Ancestry of Brazilian mtDNA Lineages |
|
|
|
|
|
|
|
|
|
| Localization of a Small Genomic Region Associated with Elevated ACE |
|
|
|
|
|
|
|
|
|
| Performance of Markov Chain–Monte Carlo Approaches for Mapping Genes in Oligogenic Models with an Unknown Number of Loci |
|
|
|
|
|
|
|
|
|
| A Second‐Generation Genomewide Screen for Asthma‐Susceptibility Alleles in a Founder Population |
|
|
|
|
|
|
|
|
|
| Improved Inference of Relationship for Pairs of Individuals |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia‐Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene |
|
|
|
|
|
|
|
|
|
| On a Randomization Procedure |
|
|
|
|
|
|
|
|
|
| Reply to Kong and Nicolae |
|
|
|
|
|
|
|
|
|
| Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis |
|
|
|
|
|
|
|
|
|
| Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin<i>MYH9</i> |
|
|
|
|
|
|
|
|
|
| Asymmetries in the Maternal and Paternal Genetic Histories of Colombian Populations |
|
|
|
|
|
|
|
|
|
| Mutations in the<i>ABCA4</i>(<i>ABCR</i>) Gene Are the Major Cause of Autosomal Recessive Cone‐Rod Dystrophy |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β‐Subunit of Propionyl CoA Carboxylase |
|
|
|
|
|
|
|
|
|
| Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 |
|
|
|
|
|
|
|
|
|
| The Finland–United States Investigation of Non–Insulin‐Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes |
|
|
|
|
|
|
|
|
|
| The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease |
|
|
|
|
|
|
|
|
|
| Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly‐X‐Y Triple Helix |
|
|
|
|
|
|
|
|
|
| Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35 |
|
|
|
|
|
|
|
|
|
| Chromosomal Duplication Involving the Forkhead Transcription Factor Gene<i>FOXC1</i>Causes Iris Hypoplasia and Glaucoma |
|
|
|
|
|
|
|
|
|
| Tracing European Founder Lineages in the Near Eastern mtDNA Pool |
|
|
|
|
✓ |
|
|
|
European Founder Lineages |
| The Promise and Pitfalls of Telomere Region–Specific Probes |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects |
|
|
|
|
|
|
|
|
|
| General Equations for<i>P</i><sub>t</sub>,<i>P</i><sub>s</sub>, and the Power of the TDT and the Affected–Sib‐Pair Test |
|
|
|
|
|
|
|
|
|
| Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV |
|
|
|
|
|
|
|
|
|
| Employment Opportunities; Residency; WWW Catalog; Regional Mapping Panels; Course |
|
|
|
|
|
|
|
|
|
| Autosomal, mtDNA, and Y‐Chromosome Diversity in Amerinds: Pre‐ and Post‐Columbian Patterns of Gene Flow in South America |
|
|
|
|
|
|
|
|
|
| Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia |
|
|
✓ |
|
|
|
✓ |
|
Amerind, Sephardic |
| This Month in the<b><i>Journal</i></b> |
|
|
|
|
|
|
|
|
|
| Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene |
|
|
|
|
|
|
|
|
|
| Localization of a Small Genomic Region Associated with Elevated ACE |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| James V. Neel, M.D., Ph.D., (March 22, 1915–January 31, 2000): Founder Effect |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Finland–United States Investigation of Non–Insulin‐Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes‐Related Quantitative‐Trait Loci |
|
|
|
|
|
|
|
|
|
| Major Genes Regulating Total Serum Immunoglobulin E Levels in Families with Asthma |
|
|
|
|
|
|
|
|
|
| A Major Locus for Myoclonus‐Dystonia Maps to Chromosome 7q in Eight Families |
|
|
|
|
|
|
|
|
|
| Identification of<i>MEFV</i>‐Independent Modifying Genetic Factors for Familial Mediterranean Fever |
|
|
|
|
|
|
|
|
|
| Pitfalls in Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in<i>HGO</i>Involving Different Mutational Hot Spots |
|
|
|
|
|
|
|
|
|
| A Novel Mutation of<i>desert hedgehog</i>in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy |
|
|
|
|
|
|
|
|
|
| A Mutation in the Rett Syndrome Gene,<i>MECP2,</i>Causes X‐Linked Mental Retardation and Progressive Spasticity in Males |
|
|
|
|
|
|
|
|
|
| Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency of<i>ALX4</i>as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome |
|
|
|
|
|
|
|
|
|
| Letter to Human Genetics Journals |
|
|
|
|
|
|
|
|
|
| Special Oversight Groups to Add Protections for Population-Based Repository Samples |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes |
|
|
|
|
|
|
|
|
|
| Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q |
|
|
|
|
|
|
|
|
|
| Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel |
|
|
|
|
|
|
|
|
|
| Phylogenetic Network of the mtDNA Haplogroup U in Northern Finland Based on Sequence Analysis of the Complete Coding Region by Conformation-Sensitive Gel Electrophoresis |
|
|
|
|
|
|
|
|
|
| Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping |
|
|
|
|
|
|
|
|
|
| DNA Pooling in Mutation Detection with Reference to Sequence Analysis |
|
|
|
|
|
|
|
|
|
| The Ancestry of Brazilian mtDNA Lineages |
|
|
|
|
|
|
|
|
|
| The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder |
|
|
|
|
|
|
|
|
|
| Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications |
|
|
|
|
|
|
|
|
|
| Familial Aggregation of Absolute Pitch |
|
|
|
|
|
|
|
|
|
| Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype Data |
|
|
|
|
|
|
|
|
|
| Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene |
|
|
|
|
|
|
|
|
|
| mtDNA Variation among Greenland Eskimos: The Edge of the Beringian Expansion |
|
|
|
|
|
|
|
|
|
| Simple and Complex ABCR: Genetic Predisposition to Retinal Disease |
|
|
|
|
|
|
|
|
|
| Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| In the Beginning… |
|
|
|
|
|
|
|
|
|
| Genomic Differentiation of Neanderthals and Anatomically Modern Man Allows a Fossil–DNA-Based Classification of Morphologically Indistinguishable Hominid Bones |
|
|
|
|
|
|
|
|
|
| Iron-Dependent Self-Assembly of Recombinant Yeast Frataxin: Implications for Friedreich Ataxia |
|
|
|
|
|
|
|
|
|
| PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G |
|
|
|
|
|
|
|
|
|
| A Major Susceptibility Locus Influencing Plasma Triglyceride Concentrations Is Located on Chromosome 15q in Mexican Americans |
|
|
|
|
|
|
|
|
|
| A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation |
|
|
|
|
|
|
|
|
|
| Geographic Patterns of mtDNA Diversity in Europe |
|
|
|
|
|
|
|
|
|
| Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population |
|
|
|
|
|
|
✓ |
|
African American |
| Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria |
|
|
|
|
|
|
|
|
|
| A Two-Stage Variable-Stringency Semiparametric Method for Mapping Quantitative-Trait Loci with the Use of Genomewide-Scan Data on Sib Pairs |
|
|
|
|
|
|
|
|
|
| A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene |
|
|
|
|
|
|
|
|
|
| Inflated False-Positive Rates in Hardy-Weinberg and Linkage-Equilibrium Tests Are Due to Sampling on the Basis of Rare Familial Phenotypes in Finite Populations |
|
|
|
|
|
|
|
|
|
| A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27 |
|
|
|
|
|
|
|
|
|
| Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities |
|
|
|
|
|
|
|
|
|
| Multipoint Linkage Analysis of the Pseudoautosomal Regions, Using Affected Sibling Pairs |
|
|
|
|
|
|
|
|
|
| An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus |
|
|
|
|
|
|
|
|
|
| Effects of HFE C282Y and H63D Polymorphisms and Polygenic Background on Iron Stores in a Large Community Sample of Twins |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Application and Interpretation of Transmission/Disequilibrium Tests: Transmission of HLA-DQ Haplotypes to Unaffected Siblings in 526 Families with Type 1 Diabetes |
|
|
|
|
|
|
|
|
|
| My Year as 1999 ASHG President |
|
|
|
|
|
|
|
|
|
| Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome |
|
|
|
|
|
|
|
|
|
| Genomewide Search for Type 2 Diabetes–Susceptibility Genes in French Whites: Evidence for a Novel Susceptibility Locus for Early-Onset Diabetes on Chromosome 3q27-qter and Independent Replication of a |
|
|
|
|
|
|
|
|
French Whites |
| Erratum |
|
|
|
|
|
|
|
|
|
| mtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations |
|
|
|
|
|
|
|
|
|
| A Juvenile-Onset, Progressive Cataract Locus on Chromosome 3q21-q22 Is Associated with a Missense Mutation in the Beaded Filament Structural Protein–2 |
|
|
|
|
|
|
|
|
|
| Premature Ovarian Failure Is Associated with Maternally and Paternally Inherited Premutation in Brazilian Families with Fragile X |
|
|
|
|
|
|
|
|
|
| Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations |
|
|
|
|
|
|
|
|
|
| The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1 |
|
|
|
|
|
|
|
|
|
| Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype |
|
|
|
|
|
|
✓ |
|
North American Indian |
| Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome |
|
|
|
|
|
|
|
|
|
| James V. Neel, M.D., Ph.D. (March 22, 1915–January 31, 2000): Founder Effect |
|
|
|
|
|
|
|
|
|
| Absence of Significant Linkage between Phonological Coding Dyslexia and Chromosome 6p23-21.3, as Determined by Use of Quantitative-Trait Methods: Confirmation of Qualitative Analyses |
|
|
|
|
|
|
|
|
|
| Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase |
|
|
|
|
|
|
|
|
|
| Multipoint Estimation of Genetic Maps for Human Trisomies with One Parent or Other Partial Data |
|
|
|
|
|
|
|
|
|
| Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21 |
|
|
|
|
|
|
|
|
|
| Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L) |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase |
|
|
|
|
|
|
|
|
|
| Efficiency of Estimation of Haplotype Frequencies: Use of Marker Phenotypes of Unrelated Individuals versus Counting of Phase-Known Gametes |
|
|
|
|
|
|
|
|
|
| Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination |
|
|
|
|
|
|
|
|
|
| Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein |
|
|
|
|
|
|
|
|
|
| Fine Localization of a Major Disease-Susceptibility Locus for Diffuse Panbronchiolitis |
|
|
|
|
|
|
|
|
|
| A Single Genetic Origin for the G101W CDKN2A Mutation in 20 Melanoma-Prone Families |
|
|
|
|
|
|
|
|
|
| Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease |
|
|
|
|
|
|
|
|
|
| Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole |
|
|
|
|
|
|
|
|
|
| Segregation Analysis of Esophageal Cancer in a Moderately High–Incidence Area of Northern China |
|
|
|
|
|
|
|
|
|
| Persistent Heteroplasmy of a Mutation in the Human mtDNA Control Region: Hypermutation as an Apparent Consequence of Simple-Repeat Expansion/Contraction |
|
|
|
|
|
|
|
|
|
| High Germinal Instability of the (CTG)n at the SCA8 Locus of Both Expanded and Normal Alleles |
|
|
|
|
|
|
|
|
|
| Characterization of Human Crossover Interference |
|
|
|
|
|
|
|
|
|
| Trisomic Pregnancy and Earlier Age at Menopause |
|
|
|
|
|
|
|
|
|
| Multipoint Genetic Mapping with Uniparental Disomy Data |
|
|
|
|
|
|
|
|
|
| Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain |
|
|
|
|
|
|
|
|
|
| mtDNA and the Origin of the Icelanders: Deciphering Signals of Recent Population History |
|
|
|
|
|
|
|
|
|
| Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein |
|
|
|
|
|
|
|
|
|
| Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome |
|
|
|
|
|
|
|
|
|
| Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene |
|
|
|
|
|
|
|
|
|
| Significant Admixture Linkage Disequilibrium across 30 cM around the FY Locus in African Americans |
|
|
|
|
|
|
|
|
|
| The Relationship between the Sibling Recurrence-Risk Ratio and Genotype Relative Risk |
|
|
|
|
|
|
|
|
|
| Combined Analysis of Hereditary Prostate Cancer Linkage to 1q24-25: Results from 772 Hereditary Prostate Cancer Families from the International Consortium for Prostate Cancer Genetics |
|
|
|
|
|
|
|
|
|
| Premature Ovarian Failure among Fragile X Premutation Carriers: Parent-of-Origin Effect? |
|
|
|
|
|
|
|
|
|
| The Inheritance of Neuropsychological Dysfunction in Twins Discordant for Schizophrenia |
|
|
|
|
|
|
|
|
|
| Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation as the Cause of Liveborn Offspring with an Unb |
|
|
|
|
|
|
|
|
|
| A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration |
|
|
|
|
|
|
|
|
|
| Women with a Reduced Ovarian Complement May Have an Increased Risk for a Child with Down Syndrome |
|
|
|
|
|
|
|
|
|
| Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III |
|
|
|
|
|
|
|
|
|
| Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy |
|
|
|
|
|
|
|
|
|
| Ascertainment Adjustment: Where Does It Take Us? |
|
|
|
|
|
|
|
|
|
| Genetic Testing in Adoption |
|
|
|
|
|
|
|
|
|
| X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3 |
|
|
|
|
|
|
|
|
|
| Reply to Donnelly |
|
|
|
|
|
|
|
|
|
| Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis |
|
|
|
|
|
|
|
|
|
| Two Loci on Chromosomes 2 and X for Premature Coronary Heart Disease Identified in Early- and Late-Settlement Populations of Finland |
|
|
|
|
|
|
|
|
|
| Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 |
|
|
|
|
|
|
|
|
|
| Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome |
|
|
|
|
|
|
|
|
|
| Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene |
|
|
|
|
|
|
|
|
|
| A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 |
|
|
|
|
|
|
✓ |
|
Amish |
| A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) |
|
|
|
|
|
|
|
|
|
| The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data |
|
|
|
|
|
|
|
|
|
| Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes |
|
|
|
|
|
|
|
|
|
| Polymorphisms in Genes Involved in Folate Metabolism as Maternal Risk Factors for Down Syndrome |
|
|
|
|
|
|
|
|
|
| Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1 |
|
|
|
|
|
|
|
|
|
| Chromosome 6p Influences on Different Dyslexia-Related Cognitive Processes: Further Confirmation |
|
|
|
|
|
|
|
|
|
| Linkage Analysis in the Presence of Errors II: Marker-Locus Genotyping Errors Modeled with Hypercomplex Recombination Fractions |
|
|
|
|
|
|
|
|
|
| Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB) Gene |
|
|
|
|
|
|
|
|
|
| High-Density Genome Scan in Crohn Disease Shows Confirmed Linkage to Chromosome 14q11-12 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Uni |
|
|
|
|
|
|
|
|
|
| Segregation Analysis in Shwachman-Diamond Syndrome: Evidence for Recessive Inheritance |
|
|
|
|
|
|
|
|
|
| Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| A Cholesterol-Lowering Gene Maps to Chromosome 13q |
|
|
|
|
|
|
|
|
|
| mtDNA Haplogroups and Frequency Patterns in Europe |
|
|
|
|
|
|
|
|
|
| Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3 |
|
|
|
|
|
|
|
|
|
| Parametric and Nonparametric Multipoint Linkage Analysis with Imprinting and Two-Locus–Trait Models: Application to Mite Sensitization |
|
|
|
|
|
|
|
|
|
| Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Inactivation of Germline Mutant APC Alleles by Attenuated Somatic Mutations: A Molecular Genetic Mechanism for Attenuated Familial Adenomatous Polyposis |
|
|
|
|
|
|
|
|
|
| COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS |
|
|
|
|
|
|
|
|
|
| Interpretation of Linkage Data for a Huntington-Like Disorder Mapping to 4p15.3 |
|
|
|
|
|
|
|
|
|
| Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 3d ed. Edited by J. M. Friedman, David H. Gutmann, Mia MacCollin, and Vincent M. Riccardi. Baltimore: Johns Hopkins Press, 1999. Pp. 38 |
|
|
|
|
|
|
|
|
|
| Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome |
|
|
|
|
|
|
|
|
|
| Reply to Lesperance and Burmeister |
|
|
|
|
|
|
|
|
|
| Equivalence of Single- and Multilocus Markers: Power to Detect Linkage with Composite Markers Derived from Biallelic Loci |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Statistical Tests for Detection of Misspecified Relationships by Use of Genome-Screen Data |
|
|
|
|
|
|
|
|
|
| Genomewide Search for Type 2 Diabetes Susceptibility Genes in Four American Populations |
|
|
|
|
|
|
|
|
|
| Family-Based Tests of Association and Linkage That Use Unaffected Sibs, Covariates, and Interactions |
|
|
|
|
|
|
|
|
|
| Genomewide Search in Canadian Families with Inflammatory Bowel Disease Reveals Two Novel Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| Hypervariable Sites in the mtDNA Control Region Are Mutational Hotspots |
|
|
|
|
|
|
|
|
|
| Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control |
|
|
|
|
|
|
|
|
|
| Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration |
|
|
|
|
|
|
|
|
|
| A Novel X-Linked Dominant Condition: X-Linked Congenital Isolated Ptosis |
|
|
|
|
|
|
|
|
|
| Reply to Whittemore and Shih |
|
|
|
|
|
|
|
|
|
| A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 |
|
|
|
|
|
|
|
|
|
| Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Isoform-Specific Imprinting of the Human PEG1/MEST Gene |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Uni |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred |
|
|
|
|
|
|
✓ |
|
Swiss German |
| A Genome Screen of Multiplex Sibships with Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene |
|
|
|
|
|
|
|
|
|
| A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension |
|
|
|
|
|
|
|
|
|
| Active Intestinal Chloride Secretion in Human Carriers of Cystic Fibrosis Mutations: An Evaluation of the Hypothesis That Heterozygotes Have Subnormal Active Intestinal Chloride Secretion |
|
|
|
|
|
|
|
|
|
| De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10 |
|
|
|
|
|
|
|
|
|
| Association Mapping in Structured Populations |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| A New Millennium and a New Editor |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Mutation Rate in the Human mtDNA Control Region |
|
|
|
|
|
|
|
|
|
| A Unified Haseman-Elston Method for Testing Linkage with Quantitative Traits |
|
|
|
|
|
|
|
|
|
| Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome |
|
|
|
|
|
|
|
|
|
| Some Future Directions in Medical Genetics |
|
|
|
|
|
|
|
|
|
| A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 |
|
|
|
|
|
|
|
|
|
| The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp |
|
|
|
|
|
|
|
|
|
| The IBD2 Locus Shows Linkage Heterogeneity between Ulcerative Colitis and Crohn Disease |
|
|
|
|
|
|
|
|
|
| Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome |
|
|
|
|
|
|
|
|
|
| An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture |
|
|
|
|
|
|
|
|
|
| Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 |
|
|
|
|
|
|
|
|
|
| Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 |
|
|
|
|
|
|
|
|
|
| An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The Impact of Transmission-Ratio Distortion on Allele Sharing in Affected Sibling Pairs |
|
|
|
|
|
|
|
|
|
| Genetic Disorders of Human Sexual Development |
|
|
|
|
|
|
|
|
|
| Reply to Buddles et al. |
|
|
|
|
|
|
|
|
|
| Another Look Back |
|
|
|
|
|
|
|
|
|
| Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1 |
|
|
|
|
|
|
|
|
|
| Localization of Multiple Melanoma Tumor–Suppressor Genes on Chromosome 11 by Use of Homozygosity Mapping-of-Deletions Analysis |
|
|
|
|
|
|
|
|
|
| Chromosome 7q: Where Autism Meets Language Disorder? |
|
|
|
|
|
|
|
|
|
| A General Test of Association for Quantitative Traits in Nuclear Families |
|
|
|
|
|
|
|
|
|
| Elastic-Fiber Pathologies: Primary Defects in Assembly—and Secondary Disorders in Transport and Delivery |
|
|
|
|
|
|
|
|
|
| Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance |
|
|
|
|
|
|
|
|
|
| Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) |
|
|
|
|
|
|
|
|
|
| Comparative Genomic Hybridization in Combination with Flow Cytometry Improves Results of Cytogenetic Analysis of Spontaneous Abortions |
|
|
|
|
|
|
|
|
|
| Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| The HLA Component of Type I Diabetes |
|
|
|
|
|
|
|
|
|
| Genes, Peoples, and Languages. By Luigi Luca Cavalli-Sforza. New York: Farrar, Straus & Giroux, 2000. Pp. 224. $24.00 (hardcover). |
|
|
|
|
|
|
|
|
|
| Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome |
|
|
|
|
|
|
|
|
|
| A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred |
|
|
|
|
|
|
✓ |
|
Swiss German |
| Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics |
|
|
|
|
|
|
|
|
|
| The Accuracy of Statistical Methods for Estimation of Haplotype Frequencies: An Example from the CD4 Locus |
|
|
|
|
|
|
|
|
|
| Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Human Genetics: A Problem-Based Approach, 2d ed. |
|
|
|
|
|
|
|
|
|
| Consistent Long-Range Linkage Disequilibrium Generated by Admixture in a Bantu-Semitic Hybrid Population |
|
|
|
|
|
|
|
|
|
| Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing |
|
|
|
|
|
|
|
|
|
| Linkage of Tuberculosis to Chromosome 2q35 Loci, Including NRAMP1, in a Large Aboriginal Canadian Family |
|
|
|
|
|
|
✓ |
|
Aboriginal Canadian |
| Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus |
|
|
|
|
|
|
|
|
|
| The Disequilibrium Maximum-Likelihood–Binomial Test Does Not Replace the Transmission/Disequilibrium Test |
|
|
|
|
|
|
|
|
|
| Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Individual Estimates of European Genetic Admixture Associated with Lower Body-Mass Index, Plasma Glucose, and Prevalence of Type 2 Diabetes in Pima Indians |
|
|
|
|
✓ |
|
✓ |
|
European Genetic Admixture; Pima Indians |
| Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Multilocus Linkage Tests Based on Affected Relative Pairs |
|
|
|
|
|
|
|
|
|
| Data Mining Applied to Linkage Disequilibrium Mapping |
|
|
|
|
|
|
|
|
|
| Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations |
|
|
|
|
|
|
|
|
|
| The X Chromosome Frequently Lags Behind in Female Lymphocyte Anaphase |
|
|
|
|
|
|
|
|
|
| mtDNA Affinities of the Peoples of North-Central Mexico |
|
|
|
|
|
|
|
|
|
| Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers |
|
|
|
|
|
|
|
|
|
| Genomic Sequence, Splicing, and Gene Annotation |
|
|
|
|
|
|
|
|
|
| A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency |
|
|
|
|
|
|
|
|
|
| Comparison of Tests for Association and Linkage in Incomplete Families |
|
|
|
|
|
|
|
|
|
| Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia |
|
|
|
|
|
|
|
|
|
| Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3 |
|
|
|
|
|
|
|
|
|
| Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint |
|
|
|
|
|
|
|
|
|
| Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q |
|
|
|
|
|
|
|
|
|
| Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis |
|
|
|
|
|
|
|
|
|
| The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14 |
|
|
|
|
|
|
|
|
|
| A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36 |
|
|
|
|
|
|
|
|
|
| Transmission-Ratio Distortion at Xp11.4-p21.1 in Type 1 Diabetes |
|
|
|
|
|
|
|
|
|
| Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2 |
|
|
|
|
|
|
|
|
|
| Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere |
|
|
|
|
|
|
|
|
|
| Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy |
|
|
|
|
|
|
|
|
|
| Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen |
|
|
|
|
|
|
|
|
|
| The Extent of Linkage Disequilibrium in Four Populations with Distinct Demographic Histories |
|
|
|
|
|
|
|
|
|
| Analysis of Aneuploidy Frequencies in Sperm from Patients with Hereditary Nonpolyposis Colon Cancer and an hMSH2 Mutation |
|
|
|
|
|
|
|
|
|
| Founder Mutations in the BRCA1 Gene in Polish Families with Breast-Ovarian Cancer |
|
|
|
|
|
|
✓ |
|
Polish families |
| Two Genetic Loci Regulate T Cell–Dependent Islet Inflammation and Drive Autoimmune Diabetes Pathogenesis |
|
|
|
|
|
|
|
|
|
| Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing |
|
|
|
|
|
|
|
|
|
| Full-Genome Scan for Linkage in 50 Families Segregating the Bipolar Affective Disease Phenotype |
|
|
|
|
|
|
|
|
|
| Correction |
|
|
|
|
|
|
|
|
|
| Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome |
|
|
|
|
|
|
|
|
|
| Association of HPC2/ELAC2 Genotypes and Prostate Cancer |
|
|
|
|
|
|
|
|
|
| A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31 |
|
|
|
|
|
|
|
|
|
| Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer |
|
|
|
|
|
|
|
|
|
| Bias and Efficiency in Family-Based Gene-Characterization Studies: Conditional, Prospective, Retrospective, and Joint Likelihoods |
|
|
|
|
|
|
|
|
|
| Glycerol as a Correlate of Impaired Glucose Tolerance: Dissection of a Complex System by Use of a Simple Genetic Trait |
|
|
|
|
|
|
|
|
|
| Evidence for a Prostate Cancer–Susceptibility Locus on Chromosome 20 |
|
|
|
|
|
|
|
|
|
| Family-Based Tests of Association in the Presence of Linkage |
|
|
|
|
|
|
|
|
|
| Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations |
|
|
|
|
|
|
|
|
|
| A Genome Scan in Families from Australia and New Zealand Confirms the Presence of a Maternal Susceptibility Locus for Pre-Eclampsia, on Chromosome 2 |
|
|
|
|
|
|
|
|
|
| High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution |
|
|
|
|
|
|
|
|
|
| Evidence for Variable Selective Pressures at MC1R |
|
|
|
|
|
|
|
|
|
| Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) |
|
|
|
|
|
|
|
|
|
| A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen |
|
|
|
|
|
|
|
|
|
| Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men |
|
|
|
|
|
|
|
|
|
| QTL Fine Mapping, in Extreme Samples of Finite Populations, for Complex Traits with Familial Correlation Due to Polygenes |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Removing the Sampling Restrictions from Family-Based Tests of Association for a Quantitative-Trait Locus |
|
|
|
|
|
|
|
|
|
| Genome Screening in Human Systemic Lupus Erythematosus: Results from a Second Minnesota Cohort and Combined Analyses of 187 Sib-Pair Families |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34 |
|
|
|
|
|
|
|
|
|
| Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27 |
|
|
|
|
|
|
|
|
|
| No Evidence for Parent of Origin Influencing Premature Ovarian Failure in Fragile X Premutation Carriers |
|
|
|
|
|
|
|
|
|
| High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations |
|
|
|
|
|
|
|
|
|
| A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 |
|
|
|
|
|
|
|
|
|
| Gamete-Competition Models |
|
|
|
|
|
|
|
|
|
| Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 |
|
|
|
|
|
|
|
|
|
| The Number of Trait Loci in Late-Onset Alzheimer Disease |
|
|
|
|
|
|
|
|
|
| Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42 |
|
|
|
|
|
|
|
|
|
| Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase |
|
|
|
|
|
|
|
|
|
| Male Sperm Motility Dictated by Mother's mtDNA |
|
|
|
|
|
|
|
|
|
| Haplotype Fine Mapping by Evolutionary Trees |
|
|
|
|
|
|
|
|
|
| QTL Fine Mapping by Measuring and Testing for Hardy-Weinberg and Linkage Disequilibrium at a Series of Linked Marker Loci in Extreme Samples of Populations |
|
|
|
|
|
|
|
|
|
| The Transmission/Disequilibrium Test and Parental-Genotype Reconstruction for X-Chromosomal Markers |
|
|
|
|
|
|
|
|
|
| Unbiased Application of the Transmission/Disequilibrium Test to Multilocus Haplotypes |
|
|
|
|
|
|
|
|
|
| The Power of Genomic Control |
|
|
|
|
|
|
|
|
|
| Statistical Approaches to Gene Mapping |
|
|
|
|
|
|
|
|
|
| Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language |
|
|
|
|
|
|
|
|
|
| Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31* |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland |
|
|
|
|
|
|
|
|
Scandinavian and Gaelic Ancestry |
| Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome |
|
|
|
|
|
|
|
|
|
| Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency |
|
|
|
|
|
|
|
|
|
| Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa |
|
|
|
|
|
|
|
|
|
| Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data |
|
|
|
|
✓ |
|
✓ |
|
European Populations; Ashkenazi Jews |
| The Peopling of Europe from the Maternal and Paternal Perspectives |
|
|
|
|
|
|
|
|
|
| Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 Gene |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Reply to Croes et al. |
|
|
|
|
|
|
|
|
|
| Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents |
|
|
|
|
|
|
|
|
|
| Localization of the Fanconi Anemia Complementation Group D Gene to a 200-kb Region on Chromosome 3p25.3 |
|
|
|
|
|
|
|
|
|
| Intragenic Inversion of mtDNA: A New Type of Pathogenic Mutation in a Patient with Mitochondrial Myopathy |
|
|
|
|
|
|
|
|
|
| Genetics of Prostate Cancer: Too Many Loci, Too Few Genes |
|
|
|
|
|
|
|
|
|
| A Unified Sampling Approach for Multipoint Analysis of Qualitative and Quantitative Traits in Sib Pairs |
|
|
|
|
|
|
|
|
|
| Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype? |
|
|
|
|
|
|
|
|
|
| Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation |
|
|
|
|
|
|
✓ |
|
Spanish patients |
| The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1 |
|
|
|
|
|
|
|
|
|
| Genomewide Scan for Prostate Cancer–Aggressiveness Loci |
|
|
|
|
|
|
|
|
|
| N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom |
|
|
|
|
|
|
|
|
|
| Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain |
|
|
|
|
|
|
|
|
|
| Statement on Gene Therapy, April 2000 |
|
|
|
|
|
|
|
|
|
| A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23 |
|
|
|
|
|
|
|
|
|
| Significant Linkage for Tourette Syndrome in a Large French Canadian Family |
|
|
|
|
|
|
|
|
|
| Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome |
|
|
|
|
|
|
|
|
|
| Characteristics and Frequency of Germline Mutations at Microsatellite Loci from the Human Y Chromosome, as Revealed by Direct Observation in Father/Son Pairs |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9 |
|
|
|
|
|
|
|
|
|
| Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree |
|
|
|
|
|
|
|
|
|
| The Problems of Using the Transmission/Disequilibrium Test to Infer Tight Linkage |
|
|
|
|
|
|
|
|
|
| Genetic Testing Should Not Be Advocated as a Diagnostic Tool in Familial Forms of Dementia |
|
|
|
|
|
|
|
|
|
| A Genomic Scan of Families with Prostate Cancer Identifies Multiple Regions of Interest |
|
|
|
|
|
|
|
|
|
| The 1298(A→C) Mutation of Methylenetetrahydrofolate Reductase Should Be Designated to the 1289 Position of the Gene |
|
|
|
|
|
|
|
|
|
| Fine Mapping of the Chromosome 12 Late-Onset Alzheimer Disease Locus: Potential Genetic and Phenotypic Heterogeneity |
|
|
|
|
|
|
|
|
|
| Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation |
|
|
|
|
|
|
|
|
|
| SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease |
|
|
|
|
|
|
|
|
|
| ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility |
|
|
|
|
|
|
|
|
|
| Exact Multipoint Quantitative-Trait Linkage Analysis in Pedigrees by Variance Components |
|
|
|
|
|
|
|
|
|
| Evidence of Linkage of Familial Hypoalphalipoproteinemia to a Novel Locus on Chromosome 11q23 |
|
|
|
|
|
|
|
|
|
| Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins |
|
|
|
|
|
|
|
|
|
| Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 |
|
|
|
|
|
|
|
|
|
| Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter |
|
|
|
|
|
|
|
|
|
| Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema |
|
|
|
|
|
|
|
|
|
| Power Comparison of Parametric and Nonparametric Linkage Tests in Small Pedigrees |
|
|
|
|
|
|
|
|
|
| Cloning, Sequencing, and Analysis of Inv8 Chromosome Breakpoints Associated with Recombinant 8 Syndrome |
|
|
|
|
|
|
|
|
|
| Linkage Analysis in the Presence of Errors III: Marker Loci and Their Map as Nuisance Parameters |
|
|
|
|
|
|
|
|
|
| Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping |
|
|
|
|
|
|
|
|
|
| The X Chromosome and the Rate of Deleterious Mutations in Humans |
|
|
|
|
|
|
|
|
|
| Meiotic Recombination and Flanking Marker Exchange at the Highly Unstable Human Minisatellite CEB1 (D2S90) |
|
|
|
|
|
|
|
|
|
| A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data |
|
|
|
|
|
|
|
|
|
| A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region**Disclaimer: The opinions and assertions |
|
|
|
|
|
|
|
|
|
| Editorial Reviewers for 2000 |
|
|
|
|
|
|
|
|
|
| A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters |
|
|
|
|
|
|
|
|
|
| A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23 |
|
|
|
|
|
|
|
|
|
| Detection of Disease Genes by Use of Family Data. II. Application to Nuclear Families |
|
|
|
|
|
|
|
|
|
| Haplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, in a Global Representation of Populations |
|
|
|
|
|
|
|
|
|
| Pseudoautosomal Linkage of Hodgkin Disease |
|
|
|
|
|
|
|
|
|
| All LODs Are Not Created Equal**A Microsoft Excel spreadsheet, for performing easy calculations of P values for the LOD scores described in this review, is available on request from the author. |
|
|
|
|
|
|
|
|
|
| Evaluation of the Needs of Male Carriers of Mutations in BRCA1 or BRCA2 Who Have Undergone Genetic Counseling |
|
|
|
|
|
|
|
|
|
| The Trimmed-Haplotype Test for Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| Linkage Analysis in the Presence of Errors I: Complex-Valued Recombination Fractions and Complex Phenotypes |
|
|
|
|
|
|
|
|
|
| Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Exploiting Excess Sharing: A More Powerful Test of Linkage for Affected Sib Pairs than the Transmission/Disequilibrium Test |
|
|
|
|
|
|
|
|
|
| Bayesian Fine-Scale Mapping of Disease Loci, by Hidden Markov Models |
|
|
|
|
|
|
|
|
|
| Mapping a Dominant Form of Multinodular Goiter to Chromosome Xp22 |
|
|
|
|
|
|
|
|
|
| Genome Scan of Human Systemic Lupus Erythematosus by Regression Modeling: Evidence of Linkage and Epistasis at 4p16-15.2 |
|
|
|
|
|
|
|
|
|
| A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13 |
|
|
|
|
|
|
|
|
|
| Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications |
|
|
|
|
|
|
|
|
|
| Reply to the Letters from Murray et al. and Vianna-Morgante and Costa |
|
|
|
|
|
|
|
|
|
| Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis |
|
|
|
|
|
|
|
|
|
| A Coalescent Approach to Study Linkage Disequilibrium between Single-Nucleotide Polymorphisms |
|
|
|
|
|
|
|
|
|
| This Month in the |
|
|
|
|
|
|
|
|
|
| Age and Origin of the PRNP E200K Mutation Causing Familial Creutzfeldt-Jacob Disease in Libyan Jews |
|
|
|
|
|
|
✓ |
|
Libyan Jews |
| Association between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population |
|
|
|
|
|
|
✓ |
|
Finnish population |
| Evidence for a New Graves Disease Susceptibility Locus at Chromosome 18q21 |
|
|
|
|
|
|
|
|
|
| A Novel Homoplasmic Mutation in mtDNA with a Single Evolutionary Origin as a Risk Factor for Cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Reply to López-Bigas et al. |
|
|
|
|
|
|
|
|
|
| A Short Tandem Repeat–Based Phylogeny for the Human Y Chromosome |
|
|
|
|
|
|
|
|
|
| Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain |
|
|
|
|
|
|
|
|
|
| A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28 |
|
|
|
|
|
|
|
|
|
| Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation |
|
|
|
|
|
|
|
|
|
| Reconstruction of Prehistory on the Basis of Genetic Data |
|
|
|
|
|
|
|
|
|
| The Use of Case-Parent Triads to Study Joint Effects of Genotype and Exposure |
|
|
|
|
|
|
|
|
|
| The Transmission/Disequilibrium Test for Linkage on the X Chromosome |
|
|
|
|
|
|
|
|
|
| The Ile198Thr and Ala379Val Variants of Plasmatic Paf-Acetylhydrolase Impair Catalytical Activities and Are Associated with Atopy and Asthma |
|
|
|
|
|
|
|
|
|
| Testing Linkage Disequilibrium in Sibships |
|
|
|
|
|
|
|
|
|
| News from the Editor |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Unive |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 Not Associated with the Compound-Heterozygous GJB2 (Connexin 26) Genotype M34T/167delT |
|
|
|
|
|
|
|
|
|
| Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B |
|
|
|
|
|
|
|
|
|
| Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene |
|
|
|
|
|
|
|
|
|
| Linkage of a Gene for Familial Hypobetalipoproteinemia to Chromosome 3p21.1-22 |
|
|
|
|
|
|
|
|
|
| Reply to Jenkins |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Identification of the α-Aminoadipic Semialdehyde Synthase Gene, Which Is Defective in Familial Hyperlysinemia |
|
|
|
|
|
|
|
|
|
| Surnames and the Y Chromosome |
|
|
|
|
|
|
|
|
|
| Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory Uni |
|
|
|
|
|
|
|
|
|
| Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens–Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator–Mediated Regulation of Separate Channels |
|
|
|
|
|
|
|
|
|
| On the Age of the Most Prevalent Gaucher Disease–Causing Mutation, N370S |
|
|
|
|
|
|
|
|
|
| Analysis of Human Genetic Linkage, Third Edition. By Jurg Ott. Baltimore and London: The Johns Hopkins University Press, 1999. Pp. 405. $55.00. |
|
|
|
|
|
|
|
|
|
| Reply to Horvath et al. |
|
|
|
|
|
|
|
|
|
| Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease-Causing Point Mutations |
|
|
|
|
|
|
|
|
|
| Detection of Disease Genes by Use of Family Data. I. Likelihood-Based Theory |
|
|
|
|
|
|
|
|
|
| Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q |
|
|
|
|
|
|
|
|
|
| Identification and Analysis of Error Types in High-Throughput Genotyping |
|
|
|
|
|
|
|
|
|
| Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome |
|
|
|
|
|
|
|
|
|
| Familial Syndromic Esophageal Atresia Maps to 2p23-p24 |
|
|
|
|
|
|
|
|
|
| Power of Linkage versus Association Analysis of Quantitative Traits, by Use of Variance-Components Models, for Sibship Data |
|
|
|
|
|
|
|
|
|
| A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3 |
|
|
|
|
|
|
|
|
|
| The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations |
|
|
|
|
|
|
|
|
|
| Localization of Psoriasis-Susceptibility Locus PSORS1 to a 60-kb Interval Telomeric to HLA-C |
|
|
|
|
|
|
|
|
|
| Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36 |
|
|
|
|
|
|
|
|
|
| Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C |
|
|
|
|
|
|
|
|
|
| The Frequency of Heteroplasmy in the HVII Region of mtDNA Differs across Tissue Types and Increases with Age |
|
|
|
|
|
|
|
|
|
| Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility |
|
|
|
|
|
|
|
|
|
| Effects of Stratification in the Analysis of Affected-Sib-Pair Data: Benefits and Costs |
|
|
|
|
|
|
|
|
|
| Breaking Away from Home |
|
|
|
|
|
|
|
|
|
| Reply to Deng and Chen |
|
|
|
|
|
|
|
|
|
| Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span |
|
|
|
|
|
|
|
|
|
| Characterization of Terminal Deletions at 7q32 and 22q13.3 Healed by De Novo Telomere Addition |
|
|
|
|
|
|
|
|
|
| A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test |
|
|
|
|
|
|
|
|
|
| Genetic Predisposition to Clinical Tuberculosis: Bridging the Gap between Simple and Complex Inheritance |
|
|
|
|
|
|
|
|
|
| Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15 |
|
|
|
|
|
|
|
|
|
| Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| An Isochore Transition in the NF1 Gene Region Coincides with a Switch in the Extent of Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| The Efficiency of Pooling in the Detection of Rare Mutations |
|
|
|
|
|
|
|
|
|
| Y Chromosomes Traveling South: The Cohen Modal Haplotype and the Origins of the Lemba—the “Black Jews of Southern Africa” |
|
|
|
|
|
|
✓ |
|
Black Jews |
| Erratum |
|
|
|
|
|
|
|
|
|
| Testing the Robustness of the New Haseman-Elston Quantitative-Trait Loci–Mapping Procedure |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1 |
|
|
|
|
|
|
|
|
|
| Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome |
|
|
|
|
|
|
|
|
|
| Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions |
|
|
|
|
|
|
|
|
|
| Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene |
|
|
|
|
|
|
|
|
|
| Parental Attitudes toward Genetic Testing for Pediatric Deafness |
|
|
|
|
|
|
|
|
|
| A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q |
|
|
|
|
|
|
|
|
|
| Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes |
|
|
|
|
|
|
|
|
|
| A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 |
|
|
|
|
|
|
|
|
|
| Linkage Analysis in the Presence of Errors IV: Joint Pseudomarker Analysis of Linkage and/or Linkage Disequilibrium on a Mixture of Pedigrees and Singletons When the Mode of Inheritance Cannot Be Accu |
|
|
|
|
|
|
|
|
|
| Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents |
|
|
|
|
|
|
|
|
|
| A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21 |
|
|
|
|
|
|
|
|
|
| Mechanisms of Genomic Imprinting |
|
|
|
|
|
|
|
|
|
| Complex Segregation Analysis Provides Compelling Evidence for a Major Gene Underlying Obsessive-Compulsive Disorder and for Heterogeneity by Sex |
|
|
|
|
|
|
|
|
|
| A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2 |
|
|
|
|
|
|
|
|
|
| Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13 |
|
|
|
|
|
|
|
|
|
| Genetic Susceptibility to Thrombosis and Its Relationship to Physiological Risk Factors: The GAIT Study |
|
|
|
|
|
|
|
|
|
| Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss |
|
|
|
|
|
|
|
|
|
| Testing for Linkage Disequilibrium, Maternal Effects, and Imprinting with (In)complete Case-Parent Triads, by Use of the Computer Program LEM |
|
|
|
|
|
|
|
|
|
| Estimation of Variance Components of Quantitative Traits in Inbred Populations |
|
|
|
|
|
|
|
|
|
| New Estimates of Intergenerational Time Intervals for the Calculation of Age and Origins of Mutations |
|
|
|
|
|
|
|
|
|
| Composite Statistics for QTL Mapping with Moderately Discordant Sibling Pairs |
|
|
|
|
|
|
|
|
|
| High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism |
|
|
|
|
|
|
|
|
|
| Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes |
|
|
|
|
|
|
|
|
|