nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Absolute Pitch: An Approach for Identification of Genetic and Nongenetic Components
|
Baharloo, Siamak |
|
1998 |
62 |
2 |
p. 224-231 8 p. |
artikel |
2 |
A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22
|
Nöthen, Markus M. |
|
1998 |
62 |
2 |
p. 386-390 5 p. |
artikel |
3 |
Announcement 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 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.
|
|
|
1998 |
62 |
2 |
p. 499- 1 p. |
artikel |
4 |
A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test
|
Spielman, Richard S. |
|
1998 |
62 |
2 |
p. 450-458 9 p. |
artikel |
5 |
Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13
|
Pekkarinen, Petra |
|
1998 |
62 |
2 |
p. 362-372 11 p. |
artikel |
6 |
Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families
|
Cavalier, Laurent |
|
1998 |
62 |
2 |
p. 301-310 10 p. |
artikel |
7 |
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
|
Stankovic, T. |
|
1998 |
62 |
2 |
p. 334-345 12 p. |
artikel |
8 |
Candidate-Gene Studies of the Atherogenic Lipoprotein Phenotype: A Sib-Pair Linkage Analysis of DZ Women Twins
|
Austin, Melissa A. |
|
1998 |
62 |
2 |
p. 406-419 14 p. |
artikel |
9 |
Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1
|
Bassett, J.H.D. |
|
1998 |
62 |
2 |
p. 232-244 13 p. |
artikel |
10 |
Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype
|
Gottlieb, Shoshanna |
|
1998 |
62 |
2 |
p. 495-498 4 p. |
artikel |
11 |
Comparative Genetics of Resistance to Viruses
|
Brownstein, David G. |
|
1998 |
62 |
2 |
p. 211-214 4 p. |
artikel |
12 |
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
|
van den Heuvel, Lambert |
|
1998 |
62 |
2 |
p. 262-268 7 p. |
artikel |
13 |
Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms
|
Passarino, Giuseppe |
|
1998 |
62 |
2 |
p. 420-434 15 p. |
artikel |
14 |
Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum
|
Briggs, Michael D. |
|
1998 |
62 |
2 |
p. 311-319 9 p. |
artikel |
15 |
Erratum
|
|
|
1998 |
62 |
2 |
p. 500- 1 p. |
artikel |
16 |
Erratum
|
|
|
1998 |
62 |
2 |
p. 501- 1 p. |
artikel |
17 |
Evidence for Paleolithic and Neolithic Gene Flow in Europe
|
Barbujani, Guido |
|
1998 |
62 |
2 |
p. 488-491 4 p. |
artikel |
18 |
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
|
Au, Kit-Sing |
|
1998 |
62 |
2 |
p. 286-294 9 p. |
artikel |
19 |
HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q
|
Mitchell, Grant A. |
|
1998 |
62 |
2 |
p. 295-300 6 p. |
artikel |
20 |
Instant Recognition: The Genetics of Pitch Perception
|
Gregersen, Peter K. |
|
1998 |
62 |
2 |
p. 221-223 3 p. |
artikel |
21 |
Likelihood Analysis of Disequilibrium Mapping, and Related Problems
|
Rannala, Bruce |
|
1998 |
62 |
2 |
p. 459-473 15 p. |
artikel |
22 |
Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p
|
Brennan, Theresa M.H. |
|
1998 |
62 |
2 |
p. 355-361 7 p. |
artikel |
23 |
Mitochondrial Control-Region Sequence Variation in Aboriginal Australians
|
van Holst Pellekaan, Sheila M. |
|
1998 |
62 |
2 |
p. 435-449 15 p. |
artikel |
24 |
Mutation Hot Spots in 5q31-Linked Corneal Dystrophies
|
Korvatska, E. |
|
1998 |
62 |
2 |
p. 320-324 5 p. |
artikel |
25 |
Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia
|
Bejjani, Bassem A. |
|
1998 |
62 |
2 |
p. 325-333 9 p. |
artikel |
26 |
Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses
|
Wuyts, Wim |
|
1998 |
62 |
2 |
p. 346-354 9 p. |
artikel |
27 |
Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors
|
Hoffmeyer, Sven |
|
1998 |
62 |
2 |
p. 269-277 9 p. |
artikel |
28 |
Professional Disclosure of Familial Genetic Information
|
|
|
1998 |
62 |
2 |
p. 474-483 10 p. |
artikel |
29 |
Reply to Barbujani et al.
|
Richards, Martin |
|
1998 |
62 |
2 |
p. 491-492 2 p. |
artikel |
30 |
Reply to Burghes
|
MacKenzie, Alex E. |
|
1998 |
62 |
2 |
p. 485-486 2 p. |
artikel |
31 |
Reply to Hofmann et al.
|
Mackey, David |
|
1998 |
62 |
2 |
p. 492-495 4 p. |
artikel |
32 |
Reply to Loudianos et al.
|
Nanji, Manoj S. |
|
1998 |
62 |
2 |
p. 484-485 2 p. |
artikel |
33 |
Reply to Mackenzie
|
Burghes, Arthur |
|
1998 |
62 |
2 |
p. 486-488 3 p. |
artikel |
34 |
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
|
Hockertz, Michael K. |
|
1998 |
62 |
2 |
p. 373-385 13 p. |
artikel |
35 |
The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population
|
Loudianos, Georgios |
|
1998 |
62 |
2 |
p. 484- 1 p. |
artikel |
36 |
The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat
|
Steinbach, Peter |
|
1998 |
62 |
2 |
p. 278-285 8 p. |
artikel |
37 |
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
|
Annabi, Borhane |
|
1998 |
62 |
2 |
p. 400-405 6 p. |
artikel |
38 |
The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia
|
Koda, Yoshiro |
|
1998 |
62 |
2 |
p. 245-252 8 p. |
artikel |
39 |
This Month in the Journal
|
Ashkenas, John |
|
1998 |
62 |
2 |
p. i-ii nvt p. |
artikel |
40 |
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
|
Ueki, Yasuyoshi |
|
1998 |
62 |
2 |
p. 253-261 9 p. |
artikel |
41 |
Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21
|
Van Hul, Wim |
|
1998 |
62 |
2 |
p. 391-399 9 p. |
artikel |
42 |
Variability in Immune Response to Pathogens: Using Measles Vaccine to Probe Immunogenetic Determinants of Response
|
Poland, Gregory A. |
|
1998 |
62 |
2 |
p. 215-220 6 p. |
artikel |