| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans
|
Brewer, Carole
|
|
1999
|
64 |
6 |
p. 1702-1708
7 p.
|
artikel
|
| 2 |
An Extreme-Sib-Pair Genome Scan for Genes Regulating Blood Pressure
|
Xu, Xiping
|
|
1999
|
64 |
6 |
p. 1694-1701
8 p.
|
artikel
|
| 3 |
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, Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195-7470; fax them to (206) 685-9684; or send via E-mail to ajhg@u.washington.edu. Submission must be receivedat 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.
|
|
|
1999
|
64 |
6 |
p. 1789-1790
2 p.
|
artikel
|
| 4 |
Assessing the Feasibility of Linkage Disequilibrium Methods for Mapping Complex Traits: An Initial Screen for Bipolar Disorder Loci on Chromosome 18
|
Escamilla, Michael A.
|
|
1999
|
64 |
6 |
p. 1670-1678
9 p.
|
artikel
|
| 5 |
A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness
|
Kovach, Margaret J.
|
|
1999
|
64 |
6 |
p. 1580-1593
14 p.
|
artikel
|
| 6 |
Author Index for Volume 60
|
|
|
1999
|
64 |
6 |
p. 1792-1801
10 p.
|
artikel
|
| 7 |
Biology of Aging: Observations and Principles, 2d ed.
|
Finch, Caleb E.
|
|
1999
|
64 |
6 |
p. 1788-
1 p.
|
artikel
|
| 8 |
Calpainopathy—A Survey of Mutations and Polymorphisms
|
Richard, I.
|
|
1999
|
64 |
6 |
p. 1524-1540
17 p.
|
artikel
|
| 9 |
Combining the Sibling Disequilibrium Test and Transmission/Disequilibrium Test for Multiallelic Markers
|
Curtis, David
|
|
1999
|
64 |
6 |
p. 1785-1786
2 p.
|
artikel
|
| 10 |
Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II
|
Hendrickx, Jan
|
|
1999
|
64 |
6 |
p. 1541-1549
9 p.
|
artikel
|
| 11 |
Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor
|
Mardy, Sek
|
|
1999
|
64 |
6 |
p. 1570-1579
10 p.
|
artikel
|
| 12 |
Contents of Volume 64
|
|
|
1999
|
64 |
6 |
p. 1811-1831
21 p.
|
artikel
|
| 13 |
Cystic Fibrosis as a Disease of Misprocessing of the Cystic Fibrosis Transmembrane Conductance Regulator Glycoprotein
|
Riordan, John R.
|
|
1999
|
64 |
6 |
p. 1499-1504
6 p.
|
artikel
|
| 14 |
Disequilibrium Mapping of a Quantitative-Trait Locus in an Expanding Population
|
Slatkin, Montgomery
|
|
1999
|
64 |
6 |
p. 1765-1773
9 p.
|
artikel
|
| 15 |
Errata
|
|
|
1999
|
64 |
6 |
p. 1791-
1 p.
|
artikel
|
| 16 |
Erratum
|
|
|
1999
|
64 |
6 |
p. 1791-
1 p.
|
artikel
|
| 17 |
Evidence for the Genetic Heterogeneity of Nephropathic Phenotypes Associated with Denys-Drash and Frasier Syndromes
|
Koziell, A.B.
|
|
1999
|
64 |
6 |
p. 1778-1781
4 p.
|
artikel
|
| 18 |
Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion
|
Özen, Rýdvan S.
|
|
1999
|
64 |
6 |
p. 1646-1654
9 p.
|
artikel
|
| 19 |
From the ER to the Golgi: Insights from the Study of Combined Factors V and VIII Deficiency
|
Nichols, William C.
|
|
1999
|
64 |
6 |
p. 1493-1498
6 p.
|
artikel
|
| 20 |
Germ-Cell Nondisjunction in Testes Biopsies of Men With Idiopathic Infertility
|
Huang, William J.
|
|
1999
|
64 |
6 |
p. 1638-1645
8 p.
|
artikel
|
| 21 |
High Rate of Mosaicism in Tuberous Sclerosis Complex
|
Verhoef, Senno
|
|
1999
|
64 |
6 |
p. 1632-1637
6 p.
|
artikel
|
| 22 |
Homozygosity Mapping of the Achromatopsia Locus in the Pingelapese
|
Winick, Jeffrey D.
|
|
1999
|
64 |
6 |
p. 1679-1685
7 p.
|
artikel
|
| 23 |
Human Mitochondrial Complex I in Health and Disease
|
Smeitink, Jan
|
|
1999
|
64 |
6 |
p. 1505-1510
6 p.
|
artikel
|
| 24 |
Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism
|
Almasy, Laura
|
|
1999
|
64 |
6 |
p. 1686-1693
8 p.
|
artikel
|
| 25 |
Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12
|
Scolari, Francesco
|
|
1999
|
64 |
6 |
p. 1655-1660
6 p.
|
artikel
|
| 26 |
Linkage-Disequilibrium Mapping of Disease Genes by Reconstruction of Ancestral Haplotypes in Founder Populations
|
Service, S.K.
|
|
1999
|
64 |
6 |
p. 1728-1738
11 p.
|
artikel
|
| 27 |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
|
Balemans, Wendy
|
|
1999
|
64 |
6 |
p. 1661-1669
9 p.
|
artikel
|
| 28 |
Mathematical and Statistical Methods for Genetic Analysis
|
Schaid, Daniel
|
|
1999
|
64 |
6 |
p. 1787-
1 p.
|
artikel
|
| 29 |
Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation
|
Giunti, P.
|
|
1999
|
64 |
6 |
p. 1594-1603
10 p.
|
artikel
|
| 30 |
Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder
|
Sleat, David E.
|
|
1999
|
64 |
6 |
p. 1511-1523
13 p.
|
artikel
|
| 31 |
Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme
|
Seppala, Raili
|
|
1999
|
64 |
6 |
p. 1563-1569
7 p.
|
artikel
|
| 32 |
Mutations of the TIGR/MYOC Gene in Primary Open-Angle Glaucoma in Korea
|
Yoon, Sung-Joo Kim
|
|
1999
|
64 |
6 |
p. 1775-1778
4 p.
|
artikel
|
| 33 |
New Editor of The American Journal of Human Genetics
|
|
|
1999
|
64 |
6 |
p. 1832-
1 p.
|
artikel
|
| 34 |
On the Assessment of Statistical Significance in Disease-Gene Discovery
|
Zhao, Lue Ping
|
|
1999
|
64 |
6 |
p. 1739-1753
15 p.
|
artikel
|
| 35 |
Rett Syndrome in a Boy with a 47,XXY Karyotype
|
Salomão Schwartzman, José
|
|
1999
|
64 |
6 |
p. 1781-1784
4 p.
|
artikel
|
| 36 |
Sibling-Based Tests of Linkage and Association for Quantitative Traits
|
Allison, David B.
|
|
1999
|
64 |
6 |
p. 1754-1764
11 p.
|
artikel
|
| 37 |
Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences
|
Teraoka, Sharon N.
|
|
1999
|
64 |
6 |
p. 1617-1631
15 p.
|
artikel
|
| 38 |
Subject Index for Volume 64
|
|
|
1999
|
64 |
6 |
p. 1802-1810
9 p.
|
artikel
|
| 39 |
The Role of Community Review in Evaluating the Risks of Human Genetic Variation Research
|
Foster, Morris W.
|
|
1999
|
64 |
6 |
p. 1719-1727
9 p.
|
artikel
|
| 40 |
The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome
|
Bamshad, M.
|
|
1999
|
64 |
6 |
p. 1550-1562
13 p.
|
artikel
|
| 41 |
This Month in the Journal
|
Ashkenas, John
|
|
1999
|
64 |
6 |
p. i-ii
nvt p.
|
artikel
|
| 42 |
Tracing the Origin of HLA-DRB1 Alleles by Microsatellite Polymorphism
|
Bergström, Tomas F.
|
|
1999
|
64 |
6 |
p. 1709-1718
10 p.
|
artikel
|
| 43 |
X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats
|
Bassi, Maria T.
|
|
1999
|
64 |
6 |
p. 1604-1616
13 p.
|
artikel
|
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