| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
|
Healy, Eugene
|
|
1995
|
4 |
12 |
p. 2399-2402
|
artikel
|
| 2 |
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
|
Meindl, Alfons
|
|
1995
|
4 |
12 |
p. 2339-2346
|
artikel
|
| 3 |
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus
|
Jain, Pawan K.
|
|
1995
|
4 |
12 |
p. 2391-2394
|
artikel
|
| 4 |
Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci
|
Kawame, Hiroshi
|
|
1995
|
4 |
12 |
p. 2287-2293
|
artikel
|
| 5 |
Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP
|
Kiyosawa, Hidenori
|
|
1995
|
4 |
12 |
p. 2327-2334
|
artikel
|
| 6 |
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
|
Schiaffino, M.Vittoria
|
|
1995
|
4 |
12 |
p. 2319-2325
|
artikel
|
| 7 |
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1
|
Quan, Franklin
|
|
1995
|
4 |
12 |
p. 2411-2413
|
artikel
|
| 8 |
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
|
Felbor, Ute
|
|
1995
|
4 |
12 |
p. 2415-2416
|
artikel
|
| 9 |
Author index
|
|
|
1995
|
4 |
12 |
p. 2421-2421
|
artikel
|
| 10 |
Author index
|
|
|
1995
|
4 |
12 |
p. 2436-2444
|
artikel
|
| 11 |
Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid carcinoma
|
Smanik, Patricia A.
|
|
1995
|
4 |
12 |
p. 2313-2318
|
artikel
|
| 12 |
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
|
Luzi, Paola
|
|
1995
|
4 |
12 |
p. 2335-2338
|
artikel
|
| 13 |
Distinct transcription start sites generate two forms of BRCA1 mRNA
|
Xu, Chun-Fang
|
|
1995
|
4 |
12 |
p. 2259-2264
|
artikel
|
| 14 |
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL
|
|
|
1995
|
4 |
12 |
p. 2233-2237
|
artikel
|
| 15 |
Highly conserved 3′ UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1
|
Coy, Johannes F.
|
|
1995
|
4 |
12 |
p. 2209-2218
|
artikel
|
| 16 |
Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene
|
Steen, Vidar M.
|
|
1995
|
4 |
12 |
p. 2251-2257
|
artikel
|
| 17 |
Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)
|
Dry, Katherine L.
|
|
1995
|
4 |
12 |
p. 2347-2353
|
artikel
|
| 18 |
Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres
|
Sullivan, Beth A.
|
|
1995
|
4 |
12 |
p. 2189-2197
|
artikel
|
| 19 |
Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain
|
Reik, Wolf
|
|
1995
|
4 |
12 |
p. 2379-2385
|
artikel
|
| 20 |
Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase
|
Vořechovský, Igor
|
|
1995
|
4 |
12 |
p. 2403-2405
|
artikel
|
| 21 |
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
|
Levy, Annie
|
|
1995
|
4 |
12 |
p. 2417-2419
|
artikel
|
| 22 |
Linkage of congenital hereditary endothelial dystrophy to chromosome 20
|
Toma, N.Michael G.
|
|
1995
|
4 |
12 |
p. 2395-2398
|
artikel
|
| 23 |
Liposome-mediated gene transfer and expression via the skin
|
Alexander, M.Yvonne
|
|
1995
|
4 |
12 |
p. 2279-2285
|
artikel
|
| 24 |
Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
|
Suchy, Sharon F.
|
|
1995
|
4 |
12 |
p. 2245-2250
|
artikel
|
| 25 |
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
|
Cruts, Marc
|
|
1995
|
4 |
12 |
p. 2363-2371
|
artikel
|
| 26 |
Mouse Brca1: localization, sequence analysis and identification of evolutionarily conserved domains
|
Abel, Kenneth J.
|
|
1995
|
4 |
12 |
p. 2265-2273
|
artikel
|
| 27 |
Murine Brca1: sequence and significance for human missense mutations
|
Sharan, Shyam K.
|
|
1995
|
4 |
12 |
p. 2275-2278
|
artikel
|
| 28 |
Mutation analysis of the ROM1 gene in retinitis pigmentosa
|
Bascom, Roger A.
|
|
1995
|
4 |
12 |
p. 2424-2424
|
artikel
|
| 29 |
Mutation analysis of the TSC2 gene in an African-American family
|
Kumar, A.
|
|
1995
|
4 |
12 |
p. 2295-2298
|
artikel
|
| 30 |
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
|
Attié, Tania
|
|
1995
|
4 |
12 |
p. 2407-2409
|
artikel
|
| 31 |
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
|
Campion, Dominique
|
|
1995
|
4 |
12 |
p. 2373-2377
|
artikel
|
| 32 |
Non-disjunction in human sperm: evidence for an effect of increasing paternal age
|
Griffin, Darren K.
|
|
1995
|
4 |
12 |
p. 2227-2232
|
artikel
|
| 33 |
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation
|
Labelle, Yves
|
|
1995
|
4 |
12 |
p. 2219-2226
|
artikel
|
| 34 |
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
|
Roberts, Andrew G.
|
|
1995
|
4 |
12 |
p. 2387-2390
|
artikel
|
| 35 |
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
|
Eichler, Evan E.
|
|
1995
|
4 |
12 |
p. 2199-2208
|
artikel
|
| 36 |
RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain
|
Derry, Jonathan M.J.
|
|
1995
|
4 |
12 |
p. 2307-2311
|
artikel
|
| 37 |
Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes
|
Martin, Maureen
|
|
1995
|
4 |
12 |
p. 2423-2423
|
artikel
|
| 38 |
Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete
|
Tzagournissakis, Minas
|
|
1995
|
4 |
12 |
p. 2239-2243
|
artikel
|
| 39 |
Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma
|
Davis, Richard J.
|
|
1995
|
4 |
12 |
p. 2355-2362
|
artikel
|
| 40 |
Subject Index
|
|
|
1995
|
4 |
12 |
p. 2425-2435
|
artikel
|
| 41 |
T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
|
Tee, Meng-Kian
|
|
1995
|
4 |
12 |
p. 2299-2305
|
artikel
|
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