| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of the RPGRGene in 11 Pedigrees with the Retinitis Pigmentosa Type 3 Genotype: Paucity of Mutations in the Coding Region but Splice Defects in Two Families
|
Fujita, Ricardo
|
|
1997
|
61 |
3 |
p. 571-580
10 p.
|
artikel
|
| 2 |
A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map
|
Schanen, N. Carolyn
|
|
1997
|
61 |
3 |
p. 634-641
8 p.
|
artikel
|
| 3 |
Announcements
|
|
|
1997
|
61 |
3 |
p. 782-783
2 p.
|
artikel
|
| 4 |
Approximate Variance of the Standardized Measure of Gametic Disequilibrium D′
|
ZAPATA, CARLOS
|
|
1997
|
61 |
3 |
p. 771-774
4 p.
|
artikel
|
| 5 |
A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
|
Veldhuisen, B.
|
|
1997
|
61 |
3 |
p. 547-555
9 p.
|
artikel
|
| 6 |
Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen
|
Barcellos, Lisa F.
|
|
1997
|
61 |
3 |
p. 734-747
14 p.
|
artikel
|
| 7 |
Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25
|
GOULD, DOUGLAS B.
|
|
1997
|
61 |
3 |
p. 765-768
4 p.
|
artikel
|
| 8 |
Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB)
|
van den Berg, Inge E.T.
|
|
1997
|
61 |
3 |
p. 539-546
8 p.
|
artikel
|
| 9 |
Baboons as an Animal Model for Genetic Studies of Common Human Disease
|
Rogers, Jeffrey
|
|
1997
|
61 |
3 |
p. 489-493
5 p.
|
artikel
|
| 10 |
Bells and Whistles
|
Byers, Peter H.
|
|
1997
|
61 |
3 |
p. 473-474
2 p.
|
artikel
|
| 11 |
Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation
|
Hovnanian, Alain
|
|
1997
|
61 |
3 |
p. 599-610
12 p.
|
artikel
|
| 12 |
Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase
|
Quimby, B.B.
|
|
1997
|
61 |
3 |
p. 590-598
9 p.
|
artikel
|
| 13 |
Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome
|
Shapira, Stuart K.
|
|
1997
|
61 |
3 |
p. 642-650
9 p.
|
artikel
|
| 14 |
Common BRCA1 Variants and Transcriptional Activation
|
MONTEIRO, ALVARO N.A.
|
|
1997
|
61 |
3 |
p. 761-762
2 p.
|
artikel
|
| 15 |
Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas
|
Serra, Eduard
|
|
1997
|
61 |
3 |
p. 512-519
8 p.
|
artikel
|
| 16 |
Deletion of RBExons 24 and 25 Causes Low-Penetrance Retinoblastoma
|
Bremner, Rod
|
|
1997
|
61 |
3 |
p. 556-570
15 p.
|
artikel
|
| 17 |
Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci
|
Scozzari, Rosaria
|
|
1997
|
61 |
3 |
p. 719-733
15 p.
|
artikel
|
| 18 |
Family Cell Lines Available for Research—An Endangered Resource?
|
LERNMARK, ÅKE
|
|
1997
|
61 |
3 |
p. 778-779
2 p.
|
artikel
|
| 19 |
HLA and Mate Choice in Humans
|
Ober, Carole
|
|
1997
|
61 |
3 |
p. 497-504
8 p.
|
artikel
|
| 20 |
HLA and Mate Selection in Humans: Commentary
|
Beauchamp, Gary K.
|
|
1997
|
61 |
3 |
p. 494-496
3 p.
|
artikel
|
| 21 |
HLA and Mate Selection: No Evidence in South Amerindians
|
Hedrick, Philip W.
|
|
1997
|
61 |
3 |
p. 505-511
7 p.
|
artikel
|
| 22 |
Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24
|
Strautnieks, Sandra S.
|
|
1997
|
61 |
3 |
p. 630-633
4 p.
|
artikel
|
| 23 |
Interactions between Genetic and Reproductive Factors in Breast Cancer Risk in a French Family Sample
|
Andrieu, N.
|
|
1997
|
61 |
3 |
p. 678-690
13 p.
|
artikel
|
| 24 |
Markov Chain Monte Carlo Segregation and Linkage Analysis for Oligogenic Models
|
Heath, Simon C.
|
|
1997
|
61 |
3 |
p. 748-760
13 p.
|
artikel
|
| 25 |
Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa
|
Pulkkinen, Leena
|
|
1997
|
61 |
3 |
p. 611-619
9 p.
|
artikel
|
| 26 |
Meiotic Segregation, Recombination, and Gamete Aneuploidy Assessed in a t(1;10)(p22.1;q22.3) Reciprocal Translocation Carrier by Three- and Four-Probe Multicolor FISH in Sperm
|
Hummelen, Paul Van
|
|
1997
|
61 |
3 |
p. 651-659
9 p.
|
artikel
|
| 27 |
Mitochondrial Footprints of Human Expansions in Africa
|
Watson, Elizabeth
|
|
1997
|
61 |
3 |
p. 691-704
14 p.
|
artikel
|
| 28 |
Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients
|
Carlson, C.
|
|
1997
|
61 |
3 |
p. 620-629
10 p.
|
artikel
|
| 29 |
Multilocus Genotypes, a Tree of Individuals, and Human Evolutionary History
|
Mountain, Joanna L.
|
|
1997
|
61 |
3 |
p. 705-718
14 p.
|
artikel
|
| 30 |
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
|
Philippe, Christophe
|
|
1997
|
61 |
3 |
p. 520-528
9 p.
|
artikel
|
| 31 |
Of Monkeys and Men: Vervets and the Genetics of Human-Like Behaviors
|
Palmour, Roberta M.
|
|
1997
|
61 |
3 |
p. 481-488
8 p.
|
artikel
|
| 32 |
Optimizing Genetics Services in a Social, Ethical, and Policy Context: Suggestions from Consumers and Providers in the New England Regional Genetics Group (NERGG)
|
Schnatterly, Pat
|
|
1997
|
61 |
3 |
p. 781-
1 p.
|
artikel
|
| 33 |
Principles and Practice of Medical Genetics
|
Curry, Cynthia
|
|
1997
|
61 |
3 |
p. 780-781
2 p.
|
artikel
|
| 34 |
Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes
|
Hasstedt, Sandra J.
|
|
1997
|
61 |
3 |
p. 668-677
10 p.
|
artikel
|
| 35 |
Reply to Sham
|
KAPLAN, NORMAN L.
|
|
1997
|
61 |
3 |
p. 778-
1 p.
|
artikel
|
| 36 |
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey
|
de Vries, Bert B.A.
|
|
1997
|
61 |
3 |
p. 660-667
8 p.
|
artikel
|
| 37 |
Semper Fidelis: What Man's Best Friend Can Teach Us about Human Biology and Disease
|
Ostrander, Elaine A.
|
|
1997
|
61 |
3 |
p. 475-480
6 p.
|
artikel
|
| 38 |
The Genetic Clock and the Age of the Founder Effect in Growing Populations: A Lesson from French Canadians and Ashkenazim
|
LABUDA, DAMIAN
|
|
1997
|
61 |
3 |
p. 768-771
4 p.
|
artikel
|
| 39 |
The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope
|
Ishida-Yamamoto, Akemi
|
|
1997
|
61 |
3 |
p. 581-589
9 p.
|
artikel
|
| 40 |
The Significance of the 187G (H63D) Mutation in Hemochromatosis
|
BEUTLER, ERNEST
|
|
1997
|
61 |
3 |
p. 762-764
3 p.
|
artikel
|
| 41 |
This Month in the Journal
|
Ashkenas, John
|
|
1997
|
61 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 42 |
Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population
|
Laiho, Elina
|
|
1997
|
61 |
3 |
p. 529-538
10 p.
|
artikel
|
| 43 |
Transmission/Disequilibrium Tests for Multiallelic Loci
|
SHAM, PAK
|
|
1997
|
61 |
3 |
p. 774-778
5 p.
|
artikel
|
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