nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians
|
Okano, Yoshiyuki |
|
2001 |
68 |
4 |
p. 1036-1042 7 p. |
artikel |
2 |
A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases
|
Jawaheer, Damini |
|
2001 |
68 |
4 |
p. 927-936 10 p. |
artikel |
3 |
A New Statistical Method for Haplotype Reconstruction from Population Data
|
Stephens, Matthew |
|
2001 |
68 |
4 |
p. 978-989 12 p. |
artikel |
4 |
An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations
|
Kayser, Manfred |
|
2001 |
68 |
4 |
p. 990-1018 29 p. |
artikel |
5 |
Announcements 1 1 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 University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.
|
|
|
2001 |
68 |
4 |
p. 1069-1074 6 p. |
artikel |
6 |
A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy
|
Escayg, Andrew |
|
2001 |
68 |
4 |
p. 866-873 8 p. |
artikel |
7 |
Assessment of Parent-of-Origin Effects in Linkage Analysis of Quantitative Traits
|
Hanson, Robert L. |
|
2001 |
68 |
4 |
p. 951-962 12 p. |
artikel |
8 |
Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)
|
Guichard, Cécile |
|
2001 |
68 |
4 |
p. 1030-1035 6 p. |
artikel |
9 |
Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency
|
Binzak, Barbara A. |
|
2001 |
68 |
4 |
p. 839-847 9 p. |
artikel |
10 |
Correcting for a Potential Bias in the Pedigree Disequilibrium Test
|
Martin, Eden R. |
|
2001 |
68 |
4 |
p. 1065-1067 3 p. |
artikel |
11 |
Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome
|
Petek, Erwin |
|
2001 |
68 |
4 |
p. 848-858 11 p. |
artikel |
12 |
Efficient Multipoint Linkage Analysis through Reduction of Inheritance Space
|
Markianos, Kyriacos |
|
2001 |
68 |
4 |
p. 963-977 15 p. |
artikel |
13 |
Erratum
|
|
|
2001 |
68 |
4 |
p. 1075- 1 p. |
artikel |
14 |
Erratum
|
|
|
2001 |
68 |
4 |
p. 1075- 1 p. |
artikel |
15 |
Erratum
|
|
|
2001 |
68 |
4 |
p. 1075-1076 2 p. |
artikel |
16 |
Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer
|
Xu, Jianfeng |
|
2001 |
68 |
4 |
p. 901-911 11 p. |
artikel |
17 |
High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula
|
Bosch, Elena |
|
2001 |
68 |
4 |
p. 1019-1029 11 p. |
artikel |
18 |
Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
|
Wang, Kun |
|
2001 |
68 |
4 |
p. 1055-1060 6 p. |
artikel |
19 |
HPC2 Variants and Screen-Detected Prostate Cancer
|
Vesprini, Danny |
|
2001 |
68 |
4 |
p. 912-917 6 p. |
artikel |
20 |
Introductory Speech for F. Clarke Fraser *
|
Warburton, Dorothy |
|
2001 |
68 |
4 |
p. 826-827 2 p. |
artikel |
21 |
Limitations of Chromosome Classification by Multicolor Karyotyping
|
Lee, Charles |
|
2001 |
68 |
4 |
p. 1043-1047 5 p. |
artikel |
22 |
Linkage Analysis of a Complex Pedigree with Severe Bipolar Disorder, Using a Markov Chain Monte Carlo Method
|
Garner, Chad |
|
2001 |
68 |
4 |
p. 1061-1064 4 p. |
artikel |
23 |
Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36
|
Valente, Enza Maria |
|
2001 |
68 |
4 |
p. 895-900 6 p. |
artikel |
24 |
Melanocortin-1 Receptor Gene Variants Determine the Risk of Nonmelanoma Skin Cancer Independently of Fair Skin and Red Hair
|
Bastiaens, Maarten T. |
|
2001 |
68 |
4 |
p. 884-894 11 p. |
artikel |
25 |
Multipoint Linkage-Disequilibrium–Mapping Approach Based on the Case-Parent Trio Design
|
Liang, Kung-Yee |
|
2001 |
68 |
4 |
p. 937-950 14 p. |
artikel |
26 |
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
Leegwater, Peter A.J. |
|
2001 |
68 |
4 |
p. 831-838 8 p. |
artikel |
27 |
Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus
|
Wallace, R.H. |
|
2001 |
68 |
4 |
p. 859-865 7 p. |
artikel |
28 |
Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
|
Giglio, Sabrina |
|
2001 |
68 |
4 |
p. 874-883 10 p. |
artikel |
29 |
On Discovery, Genomes, The Society, and Society *
|
Worton, Ronald G. |
|
2001 |
68 |
4 |
p. 819-825 7 p. |
artikel |
30 |
Principles of Molecular Oncology
|
Jenkins, Robert |
|
2001 |
68 |
4 |
p. 1068- 1 p. |
artikel |
31 |
Resetting our Educational Sights: Unconstructing the Public's Dreams and Nightmares of the Genetic Revolution *
|
Fraser, F. Clarke |
|
2001 |
68 |
4 |
p. 828-830 3 p. |
artikel |
32 |
Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7
|
Goobie, Sharan |
|
2001 |
68 |
4 |
p. 1048-1054 7 p. |
artikel |
33 |
This Month in the Journal
|
Beauregard, Kathryn |
|
2001 |
68 |
4 |
p. i-ii nvt p. |
artikel |
34 |
Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci
|
Laval, S.H. |
|
2001 |
68 |
4 |
p. 918-926 9 p. |
artikel |