| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A De Novo Mutation (Gln2Stop) at the 5′ End of the SRY Gene Leads to Sex Reversal with Partial Ovarian Function
|
Brown, Stephen
|
|
1998
|
62 |
1 |
p. 189-192
4 p.
|
artikel
|
| 2 |
Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations
|
Körkkö, Jarmo
|
|
1998
|
62 |
1 |
p. 98-110
13 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 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 |
1 |
p. 209-210
2 p.
|
artikel
|
| 4 |
A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease
|
Tysoe, Carolyn
|
|
1998
|
62 |
1 |
p. 70-76
7 p.
|
artikel
|
| 5 |
Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations
|
Telatar, Milhan
|
|
1998
|
62 |
1 |
p. 86-97
12 p.
|
artikel
|
| 6 |
A Test Statistic to Detect Errors in Sib-Pair Relationships
|
Ehm, Margaret Gelder
|
|
1998
|
62 |
1 |
p. 181-188
8 p.
|
artikel
|
| 7 |
Cystic Fibrosis Transmembrane-Conductance Regulator Mutations among African Americans
|
Friedman, K.J.
|
|
1998
|
62 |
1 |
p. 195-196
2 p.
|
artikel
|
| 8 |
Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2
|
Parmigiani, Giovanni
|
|
1998
|
62 |
1 |
p. 145-158
14 p.
|
artikel
|
| 9 |
DNA Polymorphisms in Two Paraoxonase Genes (PON1 and PON2) Are Associated with the Risk of Coronary Heart Disease
|
Sanghera, Dharambir K.
|
|
1998
|
62 |
1 |
p. 36-44
9 p.
|
artikel
|
| 10 |
Drosophila Immune Responses as Models for Human Immunity
|
Dushay, Mitchell S.
|
|
1998
|
62 |
1 |
p. 10-14
5 p.
|
artikel
|
| 11 |
Efficient Strategies for Genome Scanning with Affected Sib Pairs
|
Curtis, David
|
|
1998
|
62 |
1 |
p. 204-205
2 p.
|
artikel
|
| 12 |
Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides
|
Estivill, Xavier
|
|
1998
|
62 |
1 |
p. 27-35
9 p.
|
artikel
|
| 13 |
Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene
|
Payne, Annette M.
|
|
1998
|
62 |
1 |
p. 192-195
4 p.
|
artikel
|
| 14 |
Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer
|
Byrne, Julianne
|
|
1998
|
62 |
1 |
p. 45-52
8 p.
|
artikel
|
| 15 |
Genetic Heterogeneity of Mannose-Binding Proteins: The Jekyll and Hyde of Innate Immunity?
|
Ezekowitz, R. Alan B.
|
|
1998
|
62 |
1 |
p. 6-9
4 p.
|
artikel
|
| 16 |
Genotype-Phenotype Correspondence in Sanfilippo Syndrome Type B
|
Zhao, Hong G.
|
|
1998
|
62 |
1 |
p. 53-63
11 p.
|
artikel
|
| 17 |
HLA and Pregnancy: The Paradox of the Fetal Allograft
|
Ober, Carole
|
|
1998
|
62 |
1 |
p. 1-5
5 p.
|
artikel
|
| 18 |
Incorporating Genotypes of Relatives into a Test of Linkage Disequilibrium
|
Excoffier, Laurent
|
|
1998
|
62 |
1 |
p. 171-180
10 p.
|
artikel
|
| 19 |
Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11.4 and Definition of a Locus Distinct from RP2 and RP3
|
Seymour, Albert B.
|
|
1998
|
62 |
1 |
p. 122-129
8 p.
|
artikel
|
| 20 |
Linkage Disequilibrium and Gene Mapping: An Empirical Least-Squares Approach
|
Lazzeroni, Laura C.
|
|
1998
|
62 |
1 |
p. 159-170
12 p.
|
artikel
|
| 21 |
Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics
|
Fischel-Ghodsian, Nathan
|
|
1998
|
62 |
1 |
p. 15-19
5 p.
|
artikel
|
| 22 |
Molecular Analysis of Mutations in the CSB(ERCC6) Gene in Patients with Cockayne Syndrome
|
Mallery, Donna L.
|
|
1998
|
62 |
1 |
p. 77-85
9 p.
|
artikel
|
| 23 |
mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?
|
Howell, Neil
|
|
1998
|
62 |
1 |
p. 196-202
7 p.
|
artikel
|
| 24 |
NAGLU Mutations Underlying Sanfilippo Syndrome Type B
|
Schmidtchen, Artur
|
|
1998
|
62 |
1 |
p. 64-69
6 p.
|
artikel
|
| 25 |
One Fewer Worry for Survivors of Childhood Cancer
|
Friedman, J.M.
|
|
1998
|
62 |
1 |
p. 25-26
2 p.
|
artikel
|
| 26 |
Paraoxonase-Gene Polymorphisms Associated with Coronary Heart Disease: Support for the Oxidative Damage Hypothesis?
|
Heinecke, Jay W.
|
|
1998
|
62 |
1 |
p. 20-24
5 p.
|
artikel
|
| 27 |
Power, Mode of Inheritance, and Type I Error in Lod Scores and Affecteds-Only Methods: Reply to Kruglyak
|
Greenberg, David A.
|
|
1998
|
62 |
1 |
p. 202-204
3 p.
|
artikel
|
| 28 |
Reply to Curtis
|
Holmans, Peter
|
|
1998
|
62 |
1 |
p. 205-207
3 p.
|
artikel
|
| 29 |
Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19
|
O'Quinn, Janis R.
|
|
1998
|
62 |
1 |
p. 130-135
6 p.
|
artikel
|
| 30 |
The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure
|
Bidichandani, Sanjay I.
|
|
1998
|
62 |
1 |
p. 111-121
11 p.
|
artikel
|
| 31 |
The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p
|
Li, Lanying
|
|
1998
|
62 |
1 |
p. 136-144
9 p.
|
artikel
|
| 32 |
The Shape of Life: Genes, Development, and the Evolution of Animal Form
|
Cressler, Walter
|
|
1998
|
62 |
1 |
p. 208-
1 p.
|
artikel
|
| 33 |
This Month in the Journal
|
Ashkenas, John
|
|
1998
|
62 |
1 |
p. i-ii
nvt p.
|
artikel
|
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