| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age Estimates of Two Common Mutations Causing Factor XI Deficiency: Recent Genetic Drift Is Not Necessary for Elevated Disease Incidence among Ashkenazi Jews
|
Goldstein, David B.
|
|
1999
|
64 |
4 |
p. 1071-1075
5 p.
|
artikel
|
| 2 |
A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3
|
Cabot, Annick
|
|
1999
|
64 |
4 |
p. 1141-1146
6 p.
|
artikel
|
| 3 |
Allowing for Missing Parents in Genetic Studies of Case-Parent Triads
|
Weinberg, C.R.
|
|
1999
|
64 |
4 |
p. 1186-1193
8 p.
|
artikel
|
| 4 |
A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation
|
Liu, Xue-Zhong
|
|
1999
|
64 |
4 |
p. 1221-1225
5 p.
|
artikel
|
| 5 |
Analysis of Chromosome 1q42.2-43 in 152 Families with High Risk of Prostate Cancer
|
Gibbs, Mark
|
|
1999
|
64 |
4 |
p. 1087-1095
9 p.
|
artikel
|
| 6 |
Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease
|
Lee, Hee Suk
|
|
1999
|
64 |
4 |
p. 1063-1070
8 p.
|
artikel
|
| 7 |
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 |
4 |
p. 1255-1256
2 p.
|
artikel
|
| 8 |
A Note on Power Approximations for the Transmission/Disequilibrium Test
|
Knapp, Michael
|
|
1999
|
64 |
4 |
p. 1177-1185
9 p.
|
artikel
|
| 9 |
A Novel NTRK1 Mutation Associated with Congenital Insensitivity to Pain with Anhidrosis
|
Greco, Angela
|
|
1999
|
64 |
4 |
p. 1207-1210
4 p.
|
artikel
|
| 10 |
Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance
|
Jackson, Christine E.
|
|
1999
|
64 |
4 |
p. 1002-1014
13 p.
|
artikel
|
| 11 |
BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits
|
Devilee, P.
|
|
1999
|
64 |
4 |
p. 943-948
6 p.
|
artikel
|
| 12 |
COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia
|
Paassilta, Petteri
|
|
1999
|
64 |
4 |
p. 1036-1044
9 p.
|
artikel
|
| 13 |
Comparison of Linkage-Disequilibrium Methods for Localization of Genes Influencing Quantitative Traits in Humans
|
Page, Grier P.
|
|
1999
|
64 |
4 |
p. 1194-1205
12 p.
|
artikel
|
| 14 |
Deafness Locus DFNB16 Is Located on Chromosome 15q13-q21 within a 5-cM Interval Flanked by Markers D15S994 and D15S132
|
Villamar, Manuela
|
|
1999
|
64 |
4 |
p. 1238-1241
4 p.
|
artikel
|
| 15 |
Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1
|
Devriendt, Koenraad
|
|
1999
|
64 |
4 |
p. 1119-1126
8 p.
|
artikel
|
| 16 |
Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
|
Perrault, Isabelle
|
|
1999
|
64 |
4 |
p. 1225-1228
4 p.
|
artikel
|
| 17 |
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease
|
Auricchio, Alberto
|
|
1999
|
64 |
4 |
p. 1216-1221
6 p.
|
artikel
|
| 18 |
Down-Weighting of Multiple Affected Sib Pairs Leads to Biased Likelihood-Ratio Tests, under the Assumption of No Linkage
|
Greenwood, Celia M.T.
|
|
1999
|
64 |
4 |
p. 1248-1252
5 p.
|
artikel
|
| 19 |
Erratum
|
|
|
1999
|
64 |
4 |
p. 1257-
1 p.
|
artikel
|
| 20 |
Erratum
|
|
|
1999
|
64 |
4 |
p. 1257-
1 p.
|
artikel
|
| 21 |
Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago
|
Díaz, Anna
|
|
1999
|
64 |
4 |
p. 1233-1238
6 p.
|
artikel
|
| 22 |
Genetic Linkage of IgA Deficiency to the Major Histocompatibility Complex: Evidence for Allele Segregation Distortion, Parent-of-Origin Penetrance Differences, and the Role of Anti-IgA Antibodies in Disease Predisposition
|
Vořechovský, Igor
|
|
1999
|
64 |
4 |
p. 1096-1109
14 p.
|
artikel
|
| 23 |
Germ-Line Mosaicism in Tuberous Sclerosis: How Common?
|
Rose, Verna M.
|
|
1999
|
64 |
4 |
p. 986-992
7 p.
|
artikel
|
| 24 |
Germ-Line NF2 Mutations and Disease Severity in Neurofibromatosis Type 2 Patients with Retinal Abnormalities
|
Baser, Michael E.
|
|
1999
|
64 |
4 |
p. 1230-1233
4 p.
|
artikel
|
| 25 |
Gonadoblastoma, Testicular and Prostate Cancers, and the TSPY Gene
|
Lau, Yun-Fai Chris
|
|
1999
|
64 |
4 |
p. 921-927
7 p.
|
artikel
|
| 26 |
Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism
|
Osier, Michael
|
|
1999
|
64 |
4 |
p. 1147-1157
11 p.
|
artikel
|
| 27 |
Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans
|
Duggirala, Ravindranath
|
|
1999
|
64 |
4 |
p. 1127-1140
14 p.
|
artikel
|
| 28 |
Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
|
Edelmann, Lisa
|
|
1999
|
64 |
4 |
p. 1076-1086
11 p.
|
artikel
|
| 29 |
Male Infertility and the Y Chromosome
|
McElreavey, Ken
|
|
1999
|
64 |
4 |
p. 928-933
6 p.
|
artikel
|
| 30 |
mtDNA Analysis of Nile River Valley Populations: A Genetic Corridor or a Barrier to Migration?
|
Krings, Matthias
|
|
1999
|
64 |
4 |
p. 1166-1176
11 p.
|
artikel
|
| 31 |
Multicentric Origin of Hemochromatosis Gene (HFE) Mutations
|
Rochette, J.
|
|
1999
|
64 |
4 |
p. 1056-1062
7 p.
|
artikel
|
| 32 |
Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population
|
Aksentijevich, Ivona
|
|
1999
|
64 |
4 |
p. 949-962
14 p.
|
artikel
|
| 33 |
Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias
|
Mohammad-Panah, Raha
|
|
1999
|
64 |
4 |
p. 1015-1023
9 p.
|
artikel
|
| 34 |
Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study
|
Hardcastle, Alison J.
|
|
1999
|
64 |
4 |
p. 1210-1215
6 p.
|
artikel
|
| 35 |
Optimal Ascertainment Strategies to Detect Linkage to Common Disease Alleles
|
Baron, Miron
|
|
1999
|
64 |
4 |
p. 1243-1246
4 p.
|
artikel
|
| 36 |
Phyllis J. McAlpine, Ph.D., 1941–98: In Memoriam
|
Cox, Diane W.
|
|
1999
|
64 |
4 |
p. 1253-1254
2 p.
|
artikel
|
| 37 |
Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31
|
Blumenfeld, Anat
|
|
1999
|
64 |
4 |
p. 1110-1118
9 p.
|
artikel
|
| 38 |
Prevalence of Bloom Syndrome Heterozygotes among Ashkenazi Jews
|
Oddoux, Carole
|
|
1999
|
64 |
4 |
p. 1241-1243
3 p.
|
artikel
|
| 39 |
Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation
|
Rantamäki, Terhi
|
|
1999
|
64 |
4 |
p. 993-1001
9 p.
|
artikel
|
| 40 |
Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease
|
Chinnery, Patrick F.
|
|
1999
|
64 |
4 |
p. 1158-1165
8 p.
|
artikel
|
| 41 |
Reply to Baron
|
Badner, Judith A.
|
|
1999
|
64 |
4 |
p. 1246-1248
3 p.
|
artikel
|
| 42 |
Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene
|
Mansergh, Fiona C.
|
|
1999
|
64 |
4 |
p. 971-985
15 p.
|
artikel
|
| 43 |
The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk
|
Maresco, Diane L.
|
|
1999
|
64 |
4 |
p. 1228-1230
3 p.
|
artikel
|
| 44 |
The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease
|
Maugeri, Alessandra
|
|
1999
|
64 |
4 |
p. 1024-1035
12 p.
|
artikel
|
| 45 |
The Genetic Basis for Periodic Fever
|
Mulley, John C.
|
|
1999
|
64 |
4 |
p. 939-942
4 p.
|
artikel
|
| 46 |
The Prevalence of Common BRCA1 and BRCA2 Mutations among Ashkenazi Jews
|
Hartge, Patricia
|
|
1999
|
64 |
4 |
p. 963-970
8 p.
|
artikel
|
| 47 |
The “Thermolabile” Variant of Methylenetetrahydrofolate Reductase and Neural Tube Defects: An Evaluation of Genetic Risk and the Relative Importance of the Genotypes of the Embryo and the Mother
|
Shields, Denis C.
|
|
1999
|
64 |
4 |
p. 1045-1055
11 p.
|
artikel
|
| 48 |
The X Chromosome and Recurrent Spontaneous Abortion: The Significance of Transmanifesting Carriers
|
Lanasa, Mark C.
|
|
1999
|
64 |
4 |
p. 934-938
5 p.
|
artikel
|
| 49 |
This Month in the Journal
|
Ashkenas, John
|
|
1999
|
64 |
4 |
p. i-ii
nvt p.
|
artikel
|
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