| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A BRCA1 Nonsense Mutation Causes Exon Skipping
|
Mazoyer, Sylvie
|
|
1998
|
62 |
3 |
p. 713-715
3 p.
|
artikel
|
| 2 |
A Causative Relationship between Mutant IFNgR1 Alleles and Impaired Cellular Response to IFNγ in a Compound Heterozygous Child
|
Altare, Frédéric
|
|
1998
|
62 |
3 |
p. 723-727
5 p.
|
artikel
|
| 3 |
A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility
|
Bione, Silvia
|
|
1998
|
62 |
3 |
p. 533-541
9 p.
|
artikel
|
| 4 |
A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA
|
Yamamoto, Shuji
|
|
1998
|
62 |
3 |
p. 719-722
4 p.
|
artikel
|
| 5 |
A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q
|
Shiels, Alan
|
|
1998
|
62 |
3 |
p. 526-532
7 p.
|
artikel
|
| 6 |
Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31
|
Haravuori, Henna
|
|
1998
|
62 |
3 |
p. 620-626
7 p.
|
artikel
|
| 7 |
Autosomal Genomic Scan for Loci Linked to Obesity and Energy Metabolism in Pima Indians
|
Norman, R.A.
|
|
1998
|
62 |
3 |
p. 659-668
10 p.
|
artikel
|
| 8 |
Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata
|
Daniele, Aurora
|
|
1998
|
62 |
3 |
p. 562-572
11 p.
|
artikel
|
| 9 |
CAS, the Human Homologue of the Yeast Chromosome-Segregation Gene CSE1, in Proliferation, Apoptosis, and Cancer
|
Brinkmann, Ulrich
|
|
1998
|
62 |
3 |
p. 509-513
5 p.
|
artikel
|
| 10 |
Consanguinity and Relative-Pair Methods for Linkage Analysis
|
Weeks, Daniel E.
|
|
1998
|
62 |
3 |
p. 730-733
4 p.
|
artikel
|
| 11 |
De Novo mtDNA nt 8993 (T→G) Mutation Resulting in Leigh Syndrome
|
Takahashi, Satoru
|
|
1998
|
62 |
3 |
p. 717-719
3 p.
|
artikel
|
| 12 |
Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling
|
Sippel, Kimberly C.
|
|
1998
|
62 |
3 |
p. 610-619
10 p.
|
artikel
|
| 13 |
Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
|
Ford, D.
|
|
1998
|
62 |
3 |
p. 676-689
14 p.
|
artikel
|
| 14 |
Genome Search in Celiac Disease
|
Greco, Luigi
|
|
1998
|
62 |
3 |
p. 669-675
7 p.
|
artikel
|
| 15 |
Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants
|
Gilad, Shlomit
|
|
1998
|
62 |
3 |
p. 551-561
11 p.
|
artikel
|
| 16 |
Health, Life, and Disability Insurance and Hereditary Nonpolyposis Colorectal Cancer
|
Rodriguez-Bigas, Miguel A.
|
|
1998
|
62 |
3 |
p. 736-737
2 p.
|
artikel
|
| 17 |
Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation
|
Manning, Bernadette M.
|
|
1998
|
62 |
3 |
p. 599-609
11 p.
|
artikel
|
| 18 |
INVITED EDITORIAL The Genetics of Cataract: Our Vision Becomes Clearer
|
Hejtmancik, J. Fielding
|
|
1998
|
62 |
3 |
p. 520-525
6 p.
|
artikel
|
| 19 |
Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A
|
Matthijs, Gert
|
|
1998
|
62 |
3 |
p. 542-550
9 p.
|
artikel
|
| 20 |
Likelihood Calculation Conditional on Observed Pedigree Structure
|
Karunaratne, P. Mahinda
|
|
1998
|
62 |
3 |
p. 738-739
2 p.
|
artikel
|
| 21 |
Linkage Analysis of Chromosome 1q Markers in 136 Prostate Cancer Families
|
Eeles, Rosalind A.
|
|
1998
|
62 |
3 |
p. 653-658
6 p.
|
artikel
|
| 22 |
Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34
|
Chance, Phillip F.
|
|
1998
|
62 |
3 |
p. 633-640
8 p.
|
artikel
|
| 23 |
Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region
|
Sarfarazi, Mansoor
|
|
1998
|
62 |
3 |
p. 641-652
12 p.
|
artikel
|
| 24 |
Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28
|
Kyndt, Florence
|
|
1998
|
62 |
3 |
p. 627-632
6 p.
|
artikel
|
| 25 |
Marker Selection for the Transmission/Disequilibrium Test, in Recently Admixed Populations
|
Kaplan, N.L.
|
|
1998
|
62 |
3 |
p. 703-712
10 p.
|
artikel
|
| 26 |
Mechanisms of Cell Death in the Inherited Retinal Degenerations
|
Travis, Gabriel H.
|
|
1998
|
62 |
3 |
p. 503-508
6 p.
|
artikel
|
| 27 |
Molecular Prophets of Death in the Fly
|
Rodriguez, Antony
|
|
1998
|
62 |
3 |
p. 514-519
6 p.
|
artikel
|
| 28 |
Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity
|
Oh, Jangsuk
|
|
1998
|
62 |
3 |
p. 593-598
6 p.
|
artikel
|
| 29 |
Mutations of the RET-GDNF Signaling Pathway in Ondine's Curse
|
Amiel, Jeanne
|
|
1998
|
62 |
3 |
p. 715-717
3 p.
|
artikel
|
| 30 |
On the Probabilities of Identity States in Permutable Populations
|
Cannings, C.
|
|
1998
|
62 |
3 |
p. 698-702
5 p.
|
artikel
|
| 31 |
On the Probability of Identity States in Permutable Populations: Reply to Cannings
|
Génin, Emmanuelle
|
|
1998
|
62 |
3 |
p. 728-729
2 p.
|
artikel
|
| 32 |
Reply to Weeks and Sinsheimer
|
Génin, Emmanuelle
|
|
1998
|
62 |
3 |
p. 731-736
6 p.
|
artikel
|
| 33 |
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1
|
Stoilov, Ivaylo
|
|
1998
|
62 |
3 |
p. 573-584
12 p.
|
artikel
|
| 34 |
Significance Levels in Complex Inheritance
|
Morton, Newton E.
|
|
1998
|
62 |
3 |
p. 690-697
8 p.
|
artikel
|
| 35 |
Splice-Site Mutations: A Novel Genetic Mechanism of Crigler-Najjar Syndrome Type 1
|
Gantla, Shailaja
|
|
1998
|
62 |
3 |
p. 585-592
8 p.
|
artikel
|
| 36 |
This Month in the Journal
|
Ashkenas, John
|
|
1998
|
62 |
3 |
p. i-ii
nvt p.
|
artikel
|
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