| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene
|
Ars, Elisabet
|
|
1998
|
62 |
4 |
p. 834-841
8 p.
|
artikel
|
| 2 |
A Locus for Autosomal Recessive Hypodontia with Associated Dental Anomalies Maps to Chromosome 16q12.1
|
Ahmad, Wasim
|
|
1998
|
62 |
4 |
p. 987-991
5 p.
|
artikel
|
| 3 |
A Log-Linear Approach to Case-Parent–Triad Data: Assessing Effects of Disease Genes That Act Either Directly or through Maternal Effects and That May Be Subject to Parental Imprinting
|
Weinberg, C.R.
|
|
1998
|
62 |
4 |
p. 969-978
10 p.
|
artikel
|
| 4 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to ajhg@u.washington.edu or by fax to (206) 685-9684. Please limit announcements to 150 words, excluding the address for correspondence, and indicate the name of the sponsoring ASHG member. Announcements will be posted on the electronic edition of the Journal within a week of receipt. For the print edition, submissions must be received 5 weeks before the month of the issue in which publication is requested.
|
|
|
1998
|
62 |
4 |
p. 1000-1002
3 p.
|
artikel
|
| 5 |
A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset
|
Lalioti, Maria D.
|
|
1998
|
62 |
4 |
p. 842-847
6 p.
|
artikel
|
| 6 |
Are We Ready to Try to Cure Alkaptonuria?
|
La Du Jr., Bert N.
|
|
1998
|
62 |
4 |
p. 765-767
3 p.
|
artikel
|
| 7 |
DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model
|
Zhang, Yao-Hua
|
|
1998
|
62 |
4 |
p. 855-864
10 p.
|
artikel
|
| 8 |
Determinism and Mass-Media Portrayals of Genetics
|
Condit, Celeste M.
|
|
1998
|
62 |
4 |
p. 979-984
6 p.
|
artikel
|
| 9 |
Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness
|
Boycott, Kym M.
|
|
1998
|
62 |
4 |
p. 865-875
11 p.
|
artikel
|
| 10 |
Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis
|
Smolarek, Teresa A.
|
|
1998
|
62 |
4 |
p. 810-815
6 p.
|
artikel
|
| 11 |
Fetal DNA in Maternal Plasma: The Plot Thickens and the Placental Barrier Thins
|
Bianchi, Diana W.
|
|
1998
|
62 |
4 |
p. 763-764
2 p.
|
artikel
|
| 12 |
Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13
|
Mulley, John
|
|
1998
|
62 |
4 |
p. 884-889
6 p.
|
artikel
|
| 13 |
Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test
|
Boehnke, Michael
|
|
1998
|
62 |
4 |
p. 950-961
12 p.
|
artikel
|
| 14 |
Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21
|
Hart, Thomas C.
|
|
1998
|
62 |
4 |
p. 876-883
8 p.
|
artikel
|
| 15 |
Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2
|
Liang, Yong
|
|
1998
|
62 |
4 |
p. 904-915
12 p.
|
artikel
|
| 16 |
Genetic Skin Disorders
|
Carey, John C.
|
|
1998
|
62 |
4 |
p. 998-
1 p.
|
artikel
|
| 17 |
Handbook of Psychiatric Genetics
|
Craddock, Nick
|
|
1998
|
62 |
4 |
p. 999-
1 p.
|
artikel
|
| 18 |
HLA and Mate Choice
|
Gill III, Thomas J.
|
|
1998
|
62 |
4 |
p. 985-986
2 p.
|
artikel
|
| 19 |
Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database
|
Jeanpierre, C.
|
|
1998
|
62 |
4 |
p. 824-833
10 p.
|
artikel
|
| 20 |
Is the Bottleneck Cracked?
|
Poulton, J.
|
|
1998
|
62 |
4 |
p. 752-757
6 p.
|
artikel
|
| 21 |
Linkage Thresholds for Two-stage Genome Scans
|
Kruglyak, Leonid
|
|
1998
|
62 |
4 |
p. 994-995
2 p.
|
artikel
|
| 22 |
Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus
|
Griffith, Andrew J.
|
|
1998
|
62 |
4 |
p. 816-823
8 p.
|
artikel
|
| 23 |
Mitochondrial Dysfunction in Idiopathic Parkinson Disease
|
Parker Jr., W. Davis
|
|
1998
|
62 |
4 |
p. 758-762
5 p.
|
artikel
|
| 24 |
Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15
|
Wandstrat, A.E.
|
|
1998
|
62 |
4 |
p. 925-936
12 p.
|
artikel
|
| 25 |
Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients
|
Beltrán-Valero de Bernabé, D.
|
|
1998
|
62 |
4 |
p. 776-784
9 p.
|
artikel
|
| 26 |
Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)
|
Burwinkel, Barbara
|
|
1998
|
62 |
4 |
p. 785-791
7 p.
|
artikel
|
| 27 |
No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended Pedigrees
|
Knowles, James A.
|
|
1998
|
62 |
4 |
p. 916-924
9 p.
|
artikel
|
| 28 |
Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss
|
Kelley, P.M.
|
|
1998
|
62 |
4 |
p. 792-799
8 p.
|
artikel
|
| 29 |
OA1 Mutations and Deletions in X-Linked Ocular Albinism
|
Schnur, Rhonda E.
|
|
1998
|
62 |
4 |
p. 800-809
10 p.
|
artikel
|
| 30 |
Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis
|
Gelb, Bruce D.
|
|
1998
|
62 |
4 |
p. 848-854
7 p.
|
artikel
|
| 31 |
Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite
|
Giltay, Jacques C.
|
|
1998
|
62 |
4 |
p. 937-940
4 p.
|
artikel
|
| 32 |
Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis
|
Lo, Y. M. Dennis
|
|
1998
|
62 |
4 |
p. 768-775
8 p.
|
artikel
|
| 33 |
Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region
|
Monk, Sarah
|
|
1998
|
62 |
4 |
p. 890-903
14 p.
|
artikel
|
| 34 |
Reply to Gill
|
Weitkamp, Lowell R.
|
|
1998
|
62 |
4 |
p. 986-987
2 p.
|
artikel
|
| 35 |
Response to Kruglyak
|
Sawcer, Stephen
|
|
1998
|
62 |
4 |
p. 996-
1 p.
|
artikel
|
| 36 |
The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II
|
Becker, Jeffrey A.
|
|
1998
|
62 |
4 |
p. 991-994
4 p.
|
artikel
|
| 37 |
The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics
|
Chomyn, Anne
|
|
1998
|
62 |
4 |
p. 745-751
7 p.
|
artikel
|
| 38 |
The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships
|
Page, Grier P.
|
|
1998
|
62 |
4 |
p. 962-968
7 p.
|
artikel
|
| 39 |
This Month in the Journal
|
Ashkenas Editorial Fellow, John
|
|
1998
|
62 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 40 |
Using Neural Networks as an Aid in the Determination of Disease Status: Comparison of Clinical Diagnosis to Neural-Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystrophy
|
Falk, Catherine T.
|
|
1998
|
62 |
4 |
p. 941-949
9 p.
|
artikel
|
Tijdschrift beschrijving