| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Comprehensive Linkage Analysis of Chromosome 21q22 Supports Prior Evidence for a Putative Bipolar Affective Disorder Locus
|
Aita, Vincent M.
|
|
1999
|
64 |
1 |
p. 210-217
8 p.
|
artikel
|
| 2 |
A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
|
Hofstra, Robert M.W.
|
|
1999
|
64 |
1 |
p. 304-307
4 p.
|
artikel
|
| 3 |
An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?
|
Puget, Nadine
|
|
1999
|
64 |
1 |
p. 300-302
3 p.
|
artikel
|
| 4 |
A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration
|
Lalwani, Anil K.
|
|
1999
|
64 |
1 |
p. 318-323
6 p.
|
artikel
|
| 5 |
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.
|
|
|
1999
|
64 |
1 |
p. 331-333
3 p.
|
artikel
|
| 6 |
A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia
|
Fisher, Simon E.
|
|
1999
|
64 |
1 |
p. 146-156
11 p.
|
artikel
|
| 7 |
A Simulation Study of the Effects of Assignment of Prior Identity-by-Descent Probabilities to Unselected Sib Pairs, in Covariance-Structure Modeling of a Quantitative-Trait Locus
|
Dolan, Conor V.
|
|
1999
|
64 |
1 |
p. 268-280
13 p.
|
artikel
|
| 8 |
Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping
|
Cormand, Bru
|
|
1999
|
64 |
1 |
p. 126-135
10 p.
|
artikel
|
| 9 |
Cancer Genetics and Insurance
|
Niermeijer, M.F.
|
|
1999
|
64 |
1 |
p. 328-
1 p.
|
artikel
|
| 10 |
Combined Linkage and Association Sib-Pair Analysis for Quantitative Traits
|
Fulker, D.W.
|
|
1999
|
64 |
1 |
p. 259-267
9 p.
|
artikel
|
| 11 |
Concerted Evolution: Molecular Mechanism and Biological Implications
|
Liao, Daiqing
|
|
1999
|
64 |
1 |
p. 24-30
7 p.
|
artikel
|
| 12 |
Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride
|
Castellani, C.
|
|
1999
|
64 |
1 |
p. 303-304
2 p.
|
artikel
|
| 13 |
Erratum
|
|
|
1999
|
64 |
1 |
p. 334-
1 p.
|
artikel
|
| 14 |
Erratum
|
|
|
1999
|
64 |
1 |
p. 334-
1 p.
|
artikel
|
| 15 |
Erratum
|
|
|
1999
|
64 |
1 |
p. 334-
1 p.
|
artikel
|
| 16 |
Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia
|
Witt, Michal
|
|
1999
|
64 |
1 |
p. 313-317
5 p.
|
artikel
|
| 17 |
Failure to Detect Linkage of Preeclampsia to the Region of the NOS3 Locus on Chromosome 7q
|
Lewis, Ian
|
|
1999
|
64 |
1 |
p. 310-313
4 p.
|
artikel
|
| 18 |
Further Evidence for the Increased Power of LOD Scores Compared with Nonparametric Methods
|
Durner, Martina
|
|
1999
|
64 |
1 |
p. 281-289
9 p.
|
artikel
|
| 19 |
Genome Scan for Human Obesity and Linkage to Markers in 20q13
|
Lee, Joseph H.
|
|
1999
|
64 |
1 |
p. 196-209
14 p.
|
artikel
|
| 20 |
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23
|
Meij, Iwan C.
|
|
1999
|
64 |
1 |
p. 180-188
9 p.
|
artikel
|
| 21 |
Inbreeding Effects on Fertility in Humans: Evidence for Reproductive Compensation
|
Ober, Carole
|
|
1999
|
64 |
1 |
p. 225-231
7 p.
|
artikel
|
| 22 |
LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis
|
Segal, Yoav
|
|
1999
|
64 |
1 |
p. 62-69
8 p.
|
artikel
|
| 23 |
Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity
|
Dufourcq-Lagelouse, Rémi
|
|
1999
|
64 |
1 |
p. 172-179
8 p.
|
artikel
|
| 24 |
Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping
|
Ohadi, Mina
|
|
1999
|
64 |
1 |
p. 165-171
7 p.
|
artikel
|
| 25 |
Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13
|
Lloyd, Sarah E.
|
|
1999
|
64 |
1 |
p. 189-195
7 p.
|
artikel
|
| 26 |
Making Genomic Medicine a Reality
|
Beaudet, Arthur L.
|
|
1999
|
64 |
1 |
p. 1-13
13 p.
|
artikel
|
| 27 |
Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation
|
Santorelli, Filippo M.
|
|
1999
|
64 |
1 |
p. 295-300
6 p.
|
artikel
|
| 28 |
Mice and the Role of Unequal Recombination in Gene-Family Evolution
|
Schimenti, John C.
|
|
1999
|
64 |
1 |
p. 40-45
6 p.
|
artikel
|
| 29 |
Molecular Genetic Analysis of Remains of a 2,000-Year-Old Human Population in China—and Its Relevance for the Origin of the Modern Japanese Population
|
Oota, Hiroki
|
|
1999
|
64 |
1 |
p. 250-258
9 p.
|
artikel
|
| 30 |
Multiple ATM-Dependent Pathways: An Explanation for Pleiotropy
|
Brown, Kevin D.
|
|
1999
|
64 |
1 |
p. 46-50
5 p.
|
artikel
|
| 31 |
New Editor of The American Journal of Human Genetics
|
|
|
1999
|
64 |
1 |
p. iii-
1 p.
|
artikel
|
| 32 |
Organelle Diseases
|
Hanna, Michael G.
|
|
1999
|
64 |
1 |
p. 330-
1 p.
|
artikel
|
| 33 |
Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis
|
van Grunsven, E.G.
|
|
1999
|
64 |
1 |
p. 99-107
9 p.
|
artikel
|
| 34 |
Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene
|
Kuslich, C.D.
|
|
1999
|
64 |
1 |
p. 70-76
7 p.
|
artikel
|
| 35 |
Professor Ching Chun Li, Courageous Scholar and Educator
|
Chakravarti, Aravinda
|
|
1999
|
64 |
1 |
p. 14-15
2 p.
|
artikel
|
| 36 |
p53 Variants Predisposing to Cancer Are Present in Healthy Centenarians
|
Bonafè, Massimiliano
|
|
1999
|
64 |
1 |
p. 292-294
3 p.
|
artikel
|
| 37 |
Quantitative-Trait Locus for Specific Language and Reading Deficits on Chromosome 6p
|
Gayán, Javier
|
|
1999
|
64 |
1 |
p. 157-164
8 p.
|
artikel
|
| 38 |
Rapid Clearance of Fetal DNA from Maternal Plasma
|
Lo, Y. M. Dennis
|
|
1999
|
64 |
1 |
p. 218-224
7 p.
|
artikel
|
| 39 |
Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia
|
Ducros, A.
|
|
1999
|
64 |
1 |
p. 89-98
10 p.
|
artikel
|
| 40 |
Refinement of the Chromosome 5p Locus for Familial Calcium Pyrophosphate Dihydrate Deposition Disease
|
Andrew, L.J.
|
|
1999
|
64 |
1 |
p. 136-145
10 p.
|
artikel
|
| 41 |
Remarks on Receiving the ASHG Award: Science and Science Education
|
Li, C.C.
|
|
1999
|
64 |
1 |
p. 16-17
2 p.
|
artikel
|
| 42 |
Reply to Niermeijer
|
Rodriguez-Bigas, Miguel A.
|
|
1999
|
64 |
1 |
p. 329-
1 p.
|
artikel
|
| 43 |
Rh mod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene
|
Huang, C.-H.
|
|
1999
|
64 |
1 |
p. 108-117
10 p.
|
artikel
|
| 44 |
Spectrum of Mutations in α-Mannosidosis
|
Berg, Thomas
|
|
1999
|
64 |
1 |
p. 77-88
12 p.
|
artikel
|
| 45 |
Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations
|
Lenkkeri, Ulla
|
|
1999
|
64 |
1 |
p. 51-61
11 p.
|
artikel
|
| 46 |
The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs
|
Macaulay, Vincent
|
|
1999
|
64 |
1 |
p. 232-249
18 p.
|
artikel
|
| 47 |
The Genomic Record of Humankind's Evolutionary Roots
|
Goodman, Morris
|
|
1999
|
64 |
1 |
p. 31-39
9 p.
|
artikel
|
| 48 |
The Glu318Gly Substitution in Presenilin 1 Is Not Causally Related to Alzheimer Disease
|
Dermaut, Bart
|
|
1999
|
64 |
1 |
p. 290-292
3 p.
|
artikel
|
| 49 |
The Interpretation of the Parameters in the Transmission/Disequilibrium Test
|
Zhao, Hongyu
|
|
1999
|
64 |
1 |
p. 326-328
3 p.
|
artikel
|
| 50 |
This Month in the Journal
|
Ashkenas, John
|
|
1999
|
64 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 51 |
Two Novel Single–Base-Pair Substitutions Adjacent to the CAG Repeat in the Huntington Disease Gene (IT15): Implications for Diagnostic Testing
|
Margolis, Russell L.
|
|
1999
|
64 |
1 |
p. 323-325
3 p.
|
artikel
|
| 52 |
Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN Gene
|
Kurose, Keisuke
|
|
1999
|
64 |
1 |
p. 308-310
3 p.
|
artikel
|
| 53 |
When Less Is More: Gene Loss as an Engine of Evolutionary Change
|
Olson, Maynard V.
|
|
1999
|
64 |
1 |
p. 18-23
6 p.
|
artikel
|
| 54 |
Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes
|
Tassabehji, Mayada
|
|
1999
|
64 |
1 |
p. 118-125
8 p.
|
artikel
|
Tijdschrift beschrijving