| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8
|
Pillo, Biagio La
|
|
1993
|
|
8 |
p. 1331-1331
|
artikel
|
| 2 |
A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
|
Nichols, B.E.
|
|
1993
|
|
8 |
p. 1347-1347
|
artikel
|
| 3 |
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease
|
Attle, Tanla
|
|
1994
|
|
8 |
p. 1439-1440
|
artikel
|
| 4 |
A calcium channel mutation causing hypokalemic periodic paralysis
|
Jurkat-Rott, Karln
|
|
1994
|
|
8 |
p. 1415-1419
|
artikel
|
| 5 |
A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus
|
Goulielmos, G.
|
|
1993
|
|
8 |
p. 1328-1328
|
artikel
|
| 6 |
Acil and BstNI/Cfrl detect all possible activating point mutations at codons 13 and 61 of the human H-ras oncogene
|
Papp, Thilo
|
|
1992
|
|
8 |
p. 649-649
|
artikel
|
| 7 |
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
|
Francis, Michael J.
|
|
1993
|
|
8 |
p. 1161-1167
|
artikel
|
| 8 |
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
|
Llewellyn, D.H.
|
|
1993
|
|
8 |
p. 1315-1316
|
artikel
|
| 9 |
Addition of functional human telomeres to YACs
|
Taylor, Stephen S.
|
|
1994
|
|
8 |
p. 1383-1386
|
artikel
|
| 10 |
A de novo frame-shift mutation in the tuberin gene
|
Kumar, A.
|
|
1995
|
|
8 |
p. 1471-1472
|
artikel
|
| 11 |
A (GA)n repeat polymorphism in the human protamine 2 (PRM 2) gene
|
Schnūlle, V.
|
|
1994
|
|
8 |
p. 1445-1445
|
artikel
|
| 12 |
A gene for Leber's congenital amaurosis maps to chromosome 17p
|
Camuzat, Agnès
|
|
1995
|
|
8 |
p. 1447-1452
|
artikel
|
| 13 |
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
|
Rafi, Mohammad A.
|
|
1995
|
|
8 |
p. 1285-1289
|
artikel
|
| 14 |
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs
|
Wirth, B.
|
|
1995
|
|
8 |
p. 1273-1284
|
artikel
|
| 15 |
Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability
|
Armour, John A.L.
|
|
1993
|
|
8 |
p. 1137-1145
|
artikel
|
| 16 |
Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome
|
Reik, Wolf
|
|
1994
|
|
8 |
p. 1297-1301
|
artikel
|
| 17 |
Alternative splicing in the fragile X gene FMR1
|
Verkerk, A.J.M.H.
|
|
1993
|
|
8 |
p. 1348-1348
|
artikel
|
| 18 |
A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency
|
Atasoy, Ulus
|
|
1993
|
|
8 |
p. 1307-1308
|
artikel
|
| 19 |
A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B
|
Vielhaber, Erica
|
|
1993
|
|
8 |
p. 1309-1310
|
artikel
|
| 20 |
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
|
Claustres, Mireille
|
|
1993
|
|
8 |
p. 1209-1213
|
artikel
|
| 21 |
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy
|
Hewitt, Jane E.
|
|
1994
|
|
8 |
p. 1287-1295
|
artikel
|
| 22 |
An A to G polymorphism in the SHBG gene
|
Xu, Yongsheng
|
|
1994
|
|
8 |
p. 1443-1443
|
artikel
|
| 23 |
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
|
Bardienb, Soraya
|
|
1995
|
|
8 |
p. 1459-1462
|
artikel
|
| 24 |
A new VNTR polymorphism at locus D1S340
|
Honma, Masamitsu
|
|
1993
|
|
8 |
p. 1329-1329
|
artikel
|
| 25 |
Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb
|
Buxton, Jessica L.
|
|
1994
|
|
8 |
p. 1409-1413
|
artikel
|
| 26 |
An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4
|
Yulug, Isik G.
|
|
1995
|
|
8 |
p. 1474-1474
|
artikel
|
| 27 |
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island
|
Chevalier-Porst, F.
|
|
1992
|
|
8 |
p. 647-648
|
artikel
|
| 28 |
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
|
Laue, Louisa
|
|
1995
|
|
8 |
p. 1429-1433
|
artikel
|
| 29 |
A novel mutation in the von Hippel — Lindau gene
|
B.Loeb, Deborah
|
|
1994
|
|
8 |
p. 1423-1424
|
artikel
|
| 30 |
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin
|
Cheadle, Jeremy P.
|
|
1994
|
|
8 |
p. 1431-1432
|
artikel
|
| 31 |
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
|
lida, Taku
|
|
1994
|
|
8 |
p. 1437-1438
|
artikel
|
| 32 |
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
|
Turco, Alberto E.
|
|
1995
|
|
8 |
p. 1331-1335
|
artikel
|
| 33 |
A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA
|
Tomatsu, Shunji
|
|
1994
|
|
8 |
p. 1427-1428
|
artikel
|
| 34 |
An Rsa\ polymorphism for the fibrillin gene (FBN1)
|
BIack, C.M.
|
|
1994
|
|
8 |
p. 1442-1442
|
artikel
|
| 35 |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta
|
Mackay, Katrina
|
|
1993
|
|
8 |
p. 1155-1160
|
artikel
|
| 36 |
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred
|
Holtzman, Eliezer J.
|
|
1993
|
|
8 |
p. 1201-1204
|
artikel
|
| 37 |
An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the Monoamine Oxidase A gene
|
Hendriks, R.W.
|
|
1992
|
|
8 |
p. 662-662
|
artikel
|
| 38 |
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines
|
J.Blake, Julian N.Schofield, Derek
|
|
1994
|
|
8 |
p. 1309-1316
|
artikel
|
| 39 |
A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)
|
Gärtner, J.
|
|
1992
|
|
8 |
p. 654-654
|
artikel
|
| 40 |
Are CpG sites mutation hot spots in the dystrophin gene?
|
Akalin, Nur
|
|
1994
|
|
8 |
p. 1425-1426
|
artikel
|
| 41 |
A serine-to-phenylalanine substitution leads to loss of alanine: glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1
|
Minatogawa, Yohsuke
|
|
1992
|
|
8 |
p. 643-644
|
artikel
|
| 42 |
A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14
|
Geisen, Caroline
|
|
1995
|
|
8 |
p. 1337-1345
|
artikel
|
| 43 |
A triplet repeat polymorphism in a gene expressed in human hypothalamus
|
Phillips, K.L.
|
|
1993
|
|
8 |
p. 1332-1332
|
artikel
|
| 44 |
Author index
|
|
|
1995
|
|
8 |
p. 1473-1474
|
artikel
|
| 45 |
Author index
|
|
|
1992
|
|
8 |
p. 661-661
|
artikel
|
| 46 |
Author index
|
|
|
1994
|
|
8 |
p. 1447-1447
|
artikel
|
| 47 |
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
|
Parmentier, Laurent
|
|
1995
|
|
8 |
p. 1391-1395
|
artikel
|
| 48 |
Avall RFLP of human keratin 10 (KRT-10) detected by PCR
|
McLean, W.H.I.
|
|
1992
|
|
8 |
p. 659-659
|
artikel
|
| 49 |
A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin
|
Hansen, Lars
|
|
1995
|
|
8 |
p. 1313-1320
|
artikel
|
| 50 |
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
|
Walker, Ann P.
|
|
1992
|
|
8 |
p. 579-585
|
artikel
|
| 51 |
A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3
|
Clark, Robert F.
|
|
1995
|
|
8 |
p. 1347-1354
|
artikel
|
| 52 |
A yeast artificial chromosome contig spanning the Charcot — Marie — Tooth disease type 1A duplication region
|
Nieuwenhuijsen, B.W.
|
|
1992
|
|
8 |
p. 605-612
|
artikel
|
| 53 |
Bg/ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37
|
Virtaneva, Kimmo I.
|
|
1993
|
|
8 |
p. 1331-1331
|
artikel
|
| 54 |
Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations
|
Hustmye, Frank G.
|
|
1993
|
|
8 |
p. 1330-1330
|
artikel
|
| 55 |
Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene
|
Peyrard, Myriam
|
|
1994
|
|
8 |
p. 1393-1399
|
artikel
|
| 56 |
Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line
|
Murata, Yasushi
|
|
1994
|
|
8 |
p. 1341-1344
|
artikel
|
| 57 |
Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene
|
Savoia, Anna
|
|
1995
|
|
8 |
p. 1321-1326
|
artikel
|
| 58 |
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
|
Winnard, A.V.
|
|
1993
|
|
8 |
p. 1347-1347
|
artikel
|
| 59 |
Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke
|
Pallanck, Leo
|
|
1994
|
|
8 |
p. 1239-1243
|
artikel
|
| 60 |
Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse
|
Bućan, Maja
|
|
1993
|
|
8 |
p. 1245-1252
|
artikel
|
| 61 |
Comparison of the positional cloning methods used to isolate the BRCA1 gene
|
Harshman, Keith
|
|
1995
|
|
8 |
p. 1259-1266
|
artikel
|
| 62 |
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness
|
M.Reld, Fiona
|
|
1994
|
|
8 |
p. 1435-1436
|
artikel
|
| 63 |
Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA
|
Oakey, Rebecca J.
|
|
1992
|
|
8 |
p. 613-620
|
artikel
|
| 64 |
Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping
|
Delfau-Larue, Marie-Hélène
|
|
1994
|
|
8 |
p. 1325-1330
|
artikel
|
| 65 |
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome
|
Gorry, Michael C.
|
|
1995
|
|
8 |
p. 1387-1390
|
artikel
|
| 66 |
Ddel polymorphism in the AGTR1 gene
|
Doria, A.
|
|
1994
|
|
8 |
p. 1444-1444
|
artikel
|
| 67 |
Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH)
|
Delhanty, Joy D.A.
|
|
1993
|
|
8 |
p. 1183-1185
|
artikel
|
| 68 |
Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping
|
Nell, David L.
|
|
1993
|
|
8 |
p. 1129-1135
|
artikel
|
| 69 |
Dinucleotide repeat polymorphism at the CHRND locus
|
Landa, B.L.
|
|
1994
|
|
8 |
p. 1445-1445
|
artikel
|
| 70 |
Dinucleotide repeat polymorphism at the D10S469 locus
|
Decker, Ruth A.
|
|
1993
|
|
8 |
p. 1330-1330
|
artikel
|
| 71 |
Dinucleotide repeat polymorphism at the D11S995 locus
|
Browne, D.L.
|
|
1993
|
|
8 |
p. 1332-1332
|
artikel
|
| 72 |
Dinucleotide repeat polymorphism at the D7S547 locus
|
Gregg, Ronald G.
|
|
1992
|
|
8 |
p. 659-659
|
artikel
|
| 73 |
Dinucleotide repeat polymorphism at the D5S134 locus linked to the adenomatous polyposis coli (APC) gene
|
Koorey, David J.
|
|
1992
|
|
8 |
p. 655-655
|
artikel
|
| 74 |
Dinucleotide repeat polymorphism at the DXS1684 locus
|
Gong, W.
|
|
1994
|
|
8 |
p. 1442-1442
|
artikel
|
| 75 |
Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q
|
Stoffel, M.
|
|
1992
|
|
8 |
p. 656-656
|
artikel
|
| 76 |
Dinucleotide repeat polymorphism at the IFNA locus (9p22)
|
Kwiatkowski, David J.
|
|
1992
|
|
8 |
p. 658-658
|
artikel
|
| 77 |
Dinucleotide repeat polymorphism in the human DCC gene at chromosome 18q21
|
Risinger, John I.
|
|
1992
|
|
8 |
p. 657-657
|
artikel
|
| 78 |
Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230)
|
Byerley, William
|
|
1993
|
|
8 |
p. 1329-1329
|
artikel
|
| 79 |
Dinucleotide repeat polymorphisms at the D3S1246 and D3S1247 loci
|
Xiao, Hong
|
|
1992
|
|
8 |
p. 652-652
|
artikel
|
| 80 |
Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci
|
Velasco, E.
|
|
1994
|
|
8 |
p. 1441-1441
|
artikel
|
| 81 |
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2
|
Bokhoven, H.van
|
|
1994
|
|
8 |
p. 1446-1446
|
artikel
|
| 82 |
Dissecting the centromere of the human Y chromosome with cloned telomeric DNA
|
Brown, K.E.
|
|
1994
|
|
8 |
p. 1227-1237
|
artikel
|
| 83 |
Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21
|
Ikeno, Masashi
|
|
1994
|
|
8 |
p. 1245-1257
|
artikel
|
| 84 |
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
|
Attié, Tania
|
|
1995
|
|
8 |
p. 1381-1386
|
artikel
|
| 85 |
Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference
|
Rappold, Gudrun A.
|
|
1994
|
|
8 |
p. 1337-1340
|
artikel
|
| 86 |
Early embryonic failure associated with uniparental disomy for human chromosome 21
|
Henderson, Deborah J.
|
|
1994
|
|
8 |
p. 1373-1376
|
artikel
|
| 87 |
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
|
Phelps, Stephanie F.
|
|
1995
|
|
8 |
p. 1251-1258
|
artikel
|
| 88 |
Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy
|
Wells, Dominic J.
|
|
1995
|
|
8 |
p. 1245-1250
|
artikel
|
| 89 |
Expression of the Huntington's disease (IT15) protein product in HD patients
|
Schilling, Gabrlele
|
|
1995
|
|
8 |
p. 1365-1371
|
artikel
|
| 90 |
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1
|
Marinoni, Jean-Christophe
|
|
1994
|
|
8 |
p. 1355-1357
|
artikel
|
| 91 |
Fine structure of the human FMR1 gene
|
Eichler, Evan E.
|
|
1993
|
|
8 |
p. 1147-1153
|
artikel
|
| 92 |
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa
|
Souied, Eric
|
|
1994
|
|
8 |
p. 1433-1434
|
artikel
|
| 93 |
Friedreich's ataxia: a defect in signal transduction?
|
Carvajal, Jaime J.
|
|
1995
|
|
8 |
p. 1411-1419
|
artikel
|
| 94 |
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
|
Bitner-Glindzicz, Maria
|
|
1995
|
|
8 |
p. 1467-1469
|
artikel
|
| 95 |
Generation of band-specific painting probes from a single microdissected chromosome
|
Guan, X.-Y.
|
|
1993
|
|
8 |
p. 1117-1121
|
artikel
|
| 96 |
Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3
|
Cruts, Marc
|
|
1995
|
|
8 |
p. 1355-1364
|
artikel
|
| 97 |
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA
|
Simard, Jacques
|
|
1993
|
|
8 |
p. 1193-1199
|
artikel
|
| 98 |
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
|
Sanson, Marc
|
|
1993
|
|
8 |
p. 1215-1220
|
artikel
|
| 99 |
High frequency gene targeting using insertional vectors
|
Dickinson, Paul
|
|
1993
|
|
8 |
p. 1299-1302
|
artikel
|
| 100 |
High-resolution in situ hybridization using DNA halo preparations
|
Wiegant, J.
|
|
1992
|
|
8 |
p. 587-591
|
artikel
|
| 101 |
High resolution physical map of the region surrounding the spinal muscular atrophy gene
|
Thompson, Terrl G.
|
|
1993
|
|
8 |
p. 1169-1176
|
artikel
|
| 102 |
Human Bg/II/Bc/I RFLP recognized by 5' region of human MAP 2 gene probe
|
Ding, Yuan
|
|
1992
|
|
8 |
p. 655-655
|
artikel
|
| 103 |
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
|
Sheffield, Val C.
|
|
1994
|
|
8 |
p. 1331-1335
|
artikel
|
| 104 |
Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient
|
Winnard, A.V.
|
|
1992
|
|
8 |
p. 645-646
|
artikel
|
| 105 |
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene
|
Chillón, Miguel
|
|
1993
|
|
8 |
p. 1317-1318
|
artikel
|
| 106 |
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia
|
Cox, Timothy C.
|
|
1992
|
|
8 |
p. 639-641
|
artikel
|
| 107 |
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
|
Knowles, James A.
|
|
1994
|
|
8 |
p. 1401-1403
|
artikel
|
| 108 |
Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa
|
Antiolo, Guillermo
|
|
1994
|
|
8 |
p. 1421-1421
|
artikel
|
| 109 |
Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
|
A.Crossey, Paul
|
|
1994
|
|
8 |
p. 1303-1308
|
artikel
|
| 110 |
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta
|
Sztrolovics, R.
|
|
1993
|
|
8 |
p. 1319-1321
|
artikel
|
| 111 |
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
|
G.Puffenberger, Erik
|
|
1994
|
|
8 |
p. 1217-1225
|
artikel
|
| 112 |
Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members
|
van Ree, Janine H.
|
|
1995
|
|
8 |
p. 1403-1409
|
artikel
|
| 113 |
Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture
|
Futreal, P.Andrew
|
|
1994
|
|
8 |
p. 1359-1364
|
artikel
|
| 114 |
Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries
|
Lee, Cheng Chi
|
|
1995
|
|
8 |
p. 1373-1380
|
artikel
|
| 115 |
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1
|
Gedde-Dahl, Tobias Jr
|
|
1994
|
|
8 |
p. 1387-1391
|
artikel
|
| 116 |
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
|
Héon, Elise
|
|
1995
|
|
8 |
p. 1435-1439
|
artikel
|
| 117 |
Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
|
Hentati, A.
|
|
1994
|
|
8 |
p. 1263-1267
|
artikel
|
| 118 |
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
|
Holmberg, Monica
|
|
1995
|
|
8 |
p. 1441-1445
|
artikel
|
| 119 |
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome
|
Lucente, D.
|
|
1995
|
|
8 |
p. 1305-1311
|
artikel
|
| 120 |
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping
|
Lehesjokl, Anna-Ellna
|
|
1993
|
|
8 |
p. 1229-1234
|
artikel
|
| 121 |
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2
|
S.P.Rose, Charlotte
|
|
1994
|
|
8 |
p. 1405-1408
|
artikel
|
| 122 |
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
|
Sarfarazi, Mansoor
|
|
1995
|
|
8 |
p. 1453-1458
|
artikel
|
| 123 |
Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization
|
Knight, Jennifer C.
|
|
1992
|
|
8 |
p. 633-637
|
artikel
|
| 124 |
Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy
|
Richard, Isabelle
|
|
1992
|
|
8 |
p. 621-624
|
artikel
|
| 125 |
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene
|
Tiranti, Valeria
|
|
1995
|
|
8 |
p. 1421-1427
|
artikel
|
| 126 |
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes
|
Lafrenlère, Ronald G.
|
|
1993
|
|
8 |
p. 1105-1115
|
artikel
|
| 127 |
Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries
|
Yaspo, Marie-Laure
|
|
1995
|
|
8 |
p. 1291-1304
|
artikel
|
| 128 |
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
|
May, Melanie
|
|
1995
|
|
8 |
p. 1465-1466
|
artikel
|
| 129 |
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR
|
Yang, Yiping
|
|
1993
|
|
8 |
p. 1253-1261
|
artikel
|
| 130 |
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6
|
Swaroop, Anand
|
|
1994
|
|
8 |
p. 1281-1286
|
artikel
|
| 131 |
Multiple colors by fluorescence in situ hybridization using ratio-labelled DNA probes create a molecular karyotype
|
Dauwerse, J.G.
|
|
1992
|
|
8 |
p. 593-598
|
artikel
|
| 132 |
Mutation of human short tandem repeats
|
Weber, James L.
|
|
1993
|
|
8 |
p. 1123-1128
|
artikel
|
| 133 |
Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome
|
Lemmink, Henny H.
|
|
1994
|
|
8 |
p. 1269-1273
|
artikel
|
| 134 |
Myotonia levior is a chloride channel disorder
|
Lehmann-Horn, Frank
|
|
1995
|
|
8 |
p. 1397-1402
|
artikel
|
| 135 |
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
|
Hofmann-Radvanyi, Hélène
|
|
1993
|
|
8 |
p. 1263-1266
|
artikel
|
| 136 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
|
8 |
p. 1335-1344
|
artikel
|
| 137 |
No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues
|
Jansen, Gert
|
|
1993
|
|
8 |
p. 1221-1227
|
artikel
|
| 138 |
Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus
|
Wenkert, David
|
|
1994
|
|
8 |
p. 1429-1430
|
artikel
|
| 139 |
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1
|
Hoffmeyer, Sven
|
|
1995
|
|
8 |
p. 1267-1272
|
artikel
|
| 140 |
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
|
W.Scherer, Stephen
|
|
1994
|
|
8 |
p. 1345-1354
|
artikel
|
| 141 |
Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci
|
Talbot, C. Conover Jr
|
|
1993
|
|
8 |
p. 1325-1325
|
artikel
|
| 142 |
Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences
|
Chong, Samuel S.
|
|
1993
|
|
8 |
p. 1187-1191
|
artikel
|
| 143 |
Presence of the Mediterranean PKU mutation IVS10 in Latin America
|
Pérez, Belén
|
|
1993
|
|
8 |
p. 1289-1290
|
artikel
|
| 144 |
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene
|
Varon, Raymonda
|
|
1995
|
|
8 |
p. 1463-1464
|
artikel
|
| 145 |
Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome
|
Chevillard, Christophe
|
|
1993
|
|
8 |
p. 1235-1243
|
artikel
|
| 146 |
Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization
|
Senger, Gabriele
|
|
1994
|
|
8 |
p. 1275-1280
|
artikel
|
| 147 |
Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)
|
Biddinger, A.L.
|
|
1993
|
|
8 |
p. 1323-1323
|
artikel
|
| 148 |
Rsal polymorphism of the human CD27 gene, a member of nerve growth factor receptor gene family
|
Martínez-Cáceres, E.
|
|
1992
|
|
8 |
p. 660-660
|
artikel
|
| 149 |
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities
|
Lightfoot, Therese
|
|
1994
|
|
8 |
p. 1377-1381
|
artikel
|
| 150 |
Severe splice site mutation preceding exon 9 of the CFTR gene
|
Dörk, Thilo
|
|
1993
|
|
8 |
p. 1313-1314
|
artikel
|
| 151 |
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations
|
Seo, Hee-Chan
|
|
1993
|
|
8 |
p. 1205-1208
|
artikel
|
| 152 |
Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s
|
Zedenlus, Jan
|
|
1994
|
|
8 |
p. 1259-1262
|
artikel
|
| 153 |
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
|
Rötig, Agnès
|
|
1995
|
|
8 |
p. 1327-1330
|
artikel
|
| 154 |
SSCP at the HTR1DA locus
|
Kasapi, M.
|
|
1994
|
|
8 |
p. 1444-1444
|
artikel
|
| 155 |
SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene
|
Drews, R.T.
|
|
1993
|
|
8 |
p. 1333-1333
|
artikel
|
| 156 |
Taql RFLP in the region of the human homeobox PBX3 gene
|
Pulik, L.
|
|
1992
|
|
8 |
p. 656-656
|
artikel
|
| 157 |
Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP)
|
Polymeropoulos, Mihael H.
|
|
1992
|
|
8 |
p. 658-658
|
artikel
|
| 158 |
The development of sequence-tagged sites for human chromosome 4
|
Goold, Richard D.
|
|
1993
|
|
8 |
p. 1271-1288
|
artikel
|
| 159 |
The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons
|
Sargent, Carole A.
|
|
1994
|
|
8 |
p. 1317-1324
|
artikel
|
| 160 |
The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect
|
lI, Setsuko
|
|
1993
|
|
8 |
p. 1303-1305
|
artikel
|
| 161 |
The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
|
Puck, Jennifer M.
|
|
1993
|
|
8 |
p. 1099-1104
|
artikel
|
| 162 |
The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene
|
Liu, Wanguo
|
|
1993
|
|
8 |
p. 1177-1182
|
artikel
|
| 163 |
The leading role of STSs in genome mapping
|
Ward, Tristan
|
|
1993
|
|
8 |
p. 1097-1098
|
artikel
|
| 164 |
The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic
|
Cooper, Katrina F.
|
|
1993
|
|
8 |
p. 1267-1270
|
artikel
|
| 165 |
The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination
|
MacDonald, M.
|
|
1994
|
|
8 |
p. 1365-1371
|
artikel
|
| 166 |
Three dinucleotide repeat polymorphisms at the DXS178 locus
|
de Weers, M.
|
|
1992
|
|
8 |
p. 653-653
|
artikel
|
| 167 |
Three Mspl polymorphisms at the UGT1 locus
|
Moghrabi, Nabil
|
|
1993
|
|
8 |
p. 1324-1324
|
artikel
|
| 168 |
Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435
|
Li, Hua
|
|
1993
|
|
8 |
p. 1326-1326
|
artikel
|
| 169 |
Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359
|
Li, Hua
|
|
1993
|
|
8 |
p. 1327-1327
|
artikel
|
| 170 |
Trinucleotide repeat polymorphism at the D5S556 locus
|
Burlet, Philippe
|
|
1993
|
|
8 |
p. 1328-1328
|
artikel
|
| 171 |
Two dinucleotide repeat polymorphisms at 17p13
|
Stack, M.
|
|
1994
|
|
8 |
p. 1443-1443
|
artikel
|
| 172 |
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
|
Oudet, Claudine
|
|
1992
|
|
8 |
p. 599-603
|
artikel
|
| 173 |
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1)
|
Donaldson, D.H.
|
|
1992
|
|
8 |
p. 651-651
|
artikel
|
| 174 |
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
|
Clarke, Lorne A.
|
|
1993
|
|
8 |
p. 1311-1312
|
artikel
|
| 175 |
Unusual variability of the complex dinucleotide repeat block at the SPN locus
|
Rogaev, E.I.
|
|
1992
|
|
8 |
p. 657-657
|
artikel
|
| 176 |
Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8; 14) translocation separate c-myc and the IgH locus up to several hundred kb
|
Joos, Stefan
|
|
1992
|
|
8 |
p. 625-632
|
artikel
|
| 177 |
What's in a spot?
|
Houseal, Timothy W.
|
|
1994
|
|
8 |
p. 1215-1216
|
artikel
|
| 178 |
X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
|
Ravia, Yehoshua
|
|
1993
|
|
8 |
p. 1295-1297
|
artikel
|
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