| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family
|
Ronce, Nathalie
|
|
1997
|
61 |
1 |
p. 233-238
6 p.
|
artikel
|
| 2 |
A Linkage Strategy for Detection of Human Quantitative-Trait Loci. I. Generalized Relative Risk Ratios and Power of Sib Pairs with Extreme Trait Values
|
Gu, Chi
|
|
1997
|
61 |
1 |
p. 200-210
11 p.
|
artikel
|
| 3 |
A Linkage Strategy for Detection of Human Quantitative-Trait Loci. II. Optimization of Study Designs Based on Extreme Sib Pairs and Generalized Relative Risk Ratios
|
Gu, Chi
|
|
1997
|
61 |
1 |
p. 211-222
12 p.
|
artikel
|
| 4 |
Announcements
|
|
|
1997
|
61 |
1 |
p. 256-258
3 p.
|
artikel
|
| 5 |
Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia
|
Shovlin, Claire L.
|
|
1997
|
61 |
1 |
p. 68-79
12 p.
|
artikel
|
| 6 |
Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1)
|
Mancini, Debora
|
|
1997
|
61 |
1 |
p. 80-87
8 p.
|
artikel
|
| 7 |
Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde
|
Munoz, R.
|
|
1997
|
61 |
1 |
p. 94-100
7 p.
|
artikel
|
| 8 |
Diagnostic Testing for Prader-Willi and Angelman Syndromes: Response
|
Smith, Arabella
|
|
1997
|
61 |
1 |
p. 241-244
4 p.
|
artikel
|
| 9 |
Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome
|
Bürger, Joachim
|
|
1997
|
61 |
1 |
p. 88-93
6 p.
|
artikel
|
| 10 |
DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene
|
Pratt, V.M.
|
|
1997
|
61 |
1 |
p. 231-233
3 p.
|
artikel
|
| 11 |
Evidence That the Apolipoprotein E-Genotype Effects on Lipid Levels Can Change with Age in Males: A Longitudinal Analysis
|
Jarvik, Gail P.
|
|
1997
|
61 |
1 |
p. 171-181
11 p.
|
artikel
|
| 12 |
Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci
|
Sohocki, Melanie M.
|
|
1997
|
61 |
1 |
p. 239-241
3 p.
|
artikel
|
| 13 |
Familial Skewed X Inactivation: A Molecular Trait Associated with High Spontaneous-Abortion Rate Maps to Xq28
|
Pegoraro, Elena
|
|
1997
|
61 |
1 |
p. 160-170
11 p.
|
artikel
|
| 14 |
FcεR1-b Polymorphism and Total Serum IgE Levels in Endemically Parasitized Australian Aborigines
|
Palmer, L.J.
|
|
1997
|
61 |
1 |
p. 182-188
7 p.
|
artikel
|
| 15 |
First-Meiotic-Division Nondisjunction in Human Oocytes
|
Angell, Roslyn
|
|
1997
|
61 |
1 |
p. 23-32
10 p.
|
artikel
|
| 16 |
Further Comments on the Characterization of Founder Amerindian Mitochondrial Haplotypes
|
Bianchi, NÉStor O.
|
|
1997
|
61 |
1 |
p. 244-246
3 p.
|
artikel
|
| 17 |
Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype
|
Campbell, Louise
|
|
1997
|
61 |
1 |
p. 40-50
11 p.
|
artikel
|
| 18 |
Homologous Recombination in Human Mitochondria?
|
Ashkenas, John
|
|
1997
|
61 |
1 |
p. 18-
1 p.
|
artikel
|
| 19 |
Human Female Meiosis: New Insights into an Error-Prone Process
|
Warburton, Dorothy
|
|
1997
|
61 |
1 |
p. 1-4
4 p.
|
artikel
|
| 20 |
Identification of the Human Chromosomal Region Containing the Iridogoniodysgenesis Anomaly Locus by Genomic-Mismatch Scanning
|
Mirzayans, Farideh
|
|
1997
|
61 |
1 |
p. 111-119
9 p.
|
artikel
|
| 21 |
Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome
|
Carrozzo, Romeo
|
|
1997
|
61 |
1 |
p. 228-231
4 p.
|
artikel
|
| 22 |
Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C
|
Greer, W.L.
|
|
1997
|
61 |
1 |
p. 139-142
4 p.
|
artikel
|
| 23 |
mtDNA Recombination: What Do In Vitro Data Mean?
|
Howell, Neil
|
|
1997
|
61 |
1 |
p. 19-22
4 p.
|
artikel
|
| 24 |
Multilocus FISH Analysis
|
Pagon, Roberta A.
|
|
1997
|
61 |
1 |
p. 16-17
2 p.
|
artikel
|
| 25 |
Nonparametric Linkage Tests Are Model Free
|
Kruglyak, Leonid
|
|
1997
|
61 |
1 |
p. 254-255
2 p.
|
artikel
|
| 26 |
Nonreplication of Linkage Disequilibrium between the Dopamine D4 Receptor Locus and Tourette Syndrome
|
Hebebrand, Johannes
|
|
1997
|
61 |
1 |
p. 238-239
2 p.
|
artikel
|
| 27 |
Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool
|
Cavalli-Sforza, L.L.
|
|
1997
|
61 |
1 |
p. 247-251
5 p.
|
artikel
|
| 28 |
Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat
|
Monrós, Eugènia
|
|
1997
|
61 |
1 |
p. 101-110
10 p.
|
artikel
|
| 29 |
Reduced Frequency of Extracolonic Cancers in Hereditary Nonpolyposis Colorectal Cancer Families with Monoallelic hMLH1Expression
|
Jäger, Anne Charlotte
|
|
1997
|
61 |
1 |
p. 129-138
10 p.
|
artikel
|
| 30 |
Reply to Bianchi and Bailliet
|
Forster, Peter
|
|
1997
|
61 |
1 |
p. 246-247
2 p.
|
artikel
|
| 31 |
Reply to Cavalli-Sforza and Minch
|
Richards, Martin
|
|
1997
|
61 |
1 |
p. 251-254
4 p.
|
artikel
|
| 32 |
Simultaneous, Multilocus FISH Analysis for Detection of Microdeletions in the Diagnostic Evaluation of Developmental Delay and Mental Retardation
|
Ligon, Azra H.
|
|
1997
|
61 |
1 |
p. 51-59
9 p.
|
artikel
|
| 33 |
Testing Association between Candidate-Gene Markers and Phenotype in Related Individuals, by Use of Estimating Equations
|
Trégouët, David-Alexandre
|
|
1997
|
61 |
1 |
p. 189-199
11 p.
|
artikel
|
| 34 |
The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2
|
Berg, Jonathan N.
|
|
1997
|
61 |
1 |
p. 60-67
8 p.
|
artikel
|
| 35 |
The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103
|
Neerman-Arbez, M.
|
|
1997
|
61 |
1 |
p. 143-150
8 p.
|
artikel
|
| 36 |
The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12
|
Moreira, Eloisa S.
|
|
1997
|
61 |
1 |
p. 151-159
9 p.
|
artikel
|
| 37 |
This Month in the Journal
|
Ashkenas, John
|
|
1997
|
61 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 38 |
Variable Age at Onset in Insulin-Dependent Diabetes Mellitus, by the Marker-Association-Segregation-χ2 Method
|
Bonneuil, Noel
|
|
1997
|
61 |
1 |
p. 223-227
5 p.
|
artikel
|
| 39 |
When Is a Deletion Not a Deletion? When It Is Converted
|
Burghes, Arthur H.M.
|
|
1997
|
61 |
1 |
p. 9-15
7 p.
|
artikel
|
| 40 |
XISTExpression and X-Chromosome Inactivation in Human Preimplantation Embryos
|
Brown, Carolyn J.
|
|
1997
|
61 |
1 |
p. 5-8
4 p.
|
artikel
|
| 41 |
XIST Expression in Human Oocytes and Preimplantation Embryos
|
Daniels, R.
|
|
1997
|
61 |
1 |
p. 33-39
7 p.
|
artikel
|
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