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 |