| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia
|
Ma, Yuanhong
|
|
1993
|
|
7 |
p. 1049-1050
|
artikel
|
| 2 |
Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia
|
Rack, K. A.
|
|
1994
|
|
7 |
p. 1053-1059
|
artikel
|
| 3 |
A CA dinucleotide polymorphism at D17S107 (17q12–q24)
|
Barker, David F.
|
|
1993
|
|
7 |
p. 1086-1086
|
artikel
|
| 4 |
A chromosome 19 CA-dinucleotide repeat polymorphism
|
Phillips, K.L.
|
|
1992
|
|
7 |
p. 551-551
|
artikel
|
| 5 |
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
|
Bueno, M.Rita Passos
|
|
1995
|
|
7 |
p. 1163-1167
|
artikel
|
| 6 |
A compound nucleotide repeat in the neurofibro-matosis (NF1) gene
|
Andersen, Lone B.
|
|
1993
|
|
7 |
p. 1083-1083
|
artikel
|
| 7 |
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
|
Huie, M. L.
|
|
1994
|
|
7 |
p. 1081-1087
|
artikel
|
| 8 |
A dinucleotide deletion (–ΔGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual
|
S.Oetting, William
|
|
1993
|
|
7 |
p. 1047-1048
|
artikel
|
| 9 |
A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q
|
Watkins, H.C.
|
|
1993
|
|
7 |
p. 1084-1084
|
artikel
|
| 10 |
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2
|
Kobayashi, Hisashi
|
|
1995
|
|
7 |
p. 1213-1216
|
artikel
|
| 11 |
Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains
|
Huynh, Duong P.
|
|
1994
|
|
7 |
p. 1075-1079
|
artikel
|
| 12 |
A microsatellite-based index map of human chromosome 11
|
Litt, M.
|
|
1993
|
|
7 |
p. 909-913
|
artikel
|
| 13 |
A microsatellite polymorphism at the THRB locus
|
Brett, Peter M.
|
|
1993
|
|
7 |
p. 1083-1083
|
artikel
|
| 14 |
A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene
|
Marchetti, G.
|
|
1993
|
|
7 |
p. 1055-1056
|
artikel
|
| 15 |
An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene
|
F.Schorderet, Daniel
|
|
1994
|
|
7 |
p. 1201-1201
|
artikel
|
| 16 |
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle
|
H.Gutmann, David
|
|
1993
|
|
7 |
p. 989-992
|
artikel
|
| 17 |
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells
|
Hull, Jeremy
|
|
1994
|
|
7 |
p. 1141-1146
|
artikel
|
| 18 |
Analysis of the mouse and rat CFTR promoter regions
|
Denamur, Erick
|
|
1994
|
|
7 |
p. 1089-1094
|
artikel
|
| 19 |
An 8-bp deletion in exon B of the iduronate-2-sulphatase gene in a case of Hunter disease
|
Goldenfum, Sandra
|
|
1993
|
|
7 |
p. 1063-1065
|
artikel
|
| 20 |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
|
Batch, J. A.
|
|
1992
|
|
7 |
p. 497-503
|
artikel
|
| 21 |
An EcoRI polymorphism in the AML1 gene
|
Birn, Debbi J.
|
|
1993
|
|
7 |
p. 1084-1084
|
artikel
|
| 22 |
An EcoRI RFLP at the human insulin-like growth factor binding protein 2 gene (IGFBP2)
|
Ehrenborg, Ewa
|
|
1992
|
|
7 |
p. 552-552
|
artikel
|
| 23 |
A new disease-causing mutation in the GAP-related domain of the NF1 gene
|
Anglani, F.
|
|
1993
|
|
7 |
p. 1057-1059
|
artikel
|
| 24 |
A new mutation of exon 5 of the P53 gene in breast cancer
|
Carrere, N.
|
|
1993
|
|
7 |
p. 1075-1075
|
artikel
|
| 25 |
A new VNTR-type RELP probe (ChdTC-15) on chromosome 12 (D12S65)
|
Honma, Masamitsu
|
|
1992
|
|
7 |
p. 555-555
|
artikel
|
| 26 |
A new VNTR-type RFLP probe (ChdTC-114) on chromosome 20p (D20S72)
|
Honma, Masamitsu
|
|
1992
|
|
7 |
p. 554-554
|
artikel
|
| 27 |
A new VNTR-type RFLP probe (λTM-18) on chromosome 1 (D1S157)
|
Honma, Masamitsu
|
|
1992
|
|
7 |
p. 554-554
|
artikel
|
| 28 |
An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome
|
Lobaccaro, Jean-Marc
|
|
1993
|
|
7 |
p. 1041-1043
|
artikel
|
| 29 |
A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease
|
Kishida, Takeshi
|
|
1994
|
|
7 |
p. 1191-1192
|
artikel
|
| 30 |
A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening
|
Kälin, Nanette
|
|
1992
|
|
7 |
p. 545-546
|
artikel
|
| 31 |
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia
|
Guldberg, Per
|
|
1993
|
|
7 |
p. 1061-1062
|
artikel
|
| 32 |
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame)
|
Matsuda, Miho
|
|
1995
|
|
7 |
p. 1187-1191
|
artikel
|
| 33 |
A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis
|
Tajima, Toshihiro
|
|
1994
|
|
7 |
p. 1187-1189
|
artikel
|
| 34 |
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex
|
Yamanishi, Kiyofumi
|
|
1994
|
|
7 |
p. 1171-1172
|
artikel
|
| 35 |
A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
|
Cheadle, Jeremy P.
|
|
1993
|
|
7 |
p. 1067-1068
|
artikel
|
| 36 |
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
|
Lafrenière, Ronald G.
|
|
1994
|
|
7 |
p. 1133-1139
|
artikel
|
| 37 |
An Sphl polymorphism at the vinculin locus (VCL)
|
Mulligan, L.M.
|
|
1992
|
|
7 |
p. 550-550
|
artikel
|
| 38 |
An Sphl polymorphism at the ZNF22 locus
|
Mulligan, L.M.
|
|
1992
|
|
7 |
p. 551-551
|
artikel
|
| 39 |
A physical map of the C6 and C7 complement component gene region on chromosome 5p13
|
Hobart, M.J.
|
|
1993
|
|
7 |
p. 1035-1036
|
artikel
|
| 40 |
A Pstl polymorphism in the 3′ end of the human type IV collagen alpha 3 chain (COL4A3) gene
|
Delbridge, M.L.
|
|
1993
|
|
7 |
p. 1086-1086
|
artikel
|
| 41 |
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration
|
Nakazawa, Mitsuru
|
|
1994
|
|
7 |
p. 1195-1196
|
artikel
|
| 42 |
A Taql site identifies the *A allele at the ACP1 locus
|
Sensabaugh, G.F.
|
|
1993
|
|
7 |
p. 1079-1079
|
artikel
|
| 43 |
A transcription map of the region containing the Huntington disease gene
|
Rommens, J.M.
|
|
1993
|
|
7 |
p. 901-907
|
artikel
|
| 44 |
A trinucleotide repeat polymorphism in XT00444 (D13S635E)
|
Yandava, C.N.
|
|
1994
|
|
7 |
p. 1209-1209
|
artikel
|
| 45 |
Author index
|
|
|
1994
|
|
7 |
p. 1213-1213
|
artikel
|
| 46 |
Author index
|
|
|
1995
|
|
7 |
p. 1241-1241
|
artikel
|
| 47 |
Author index
|
|
|
1992
|
|
7 |
p. 557-557
|
artikel
|
| 48 |
Author index
|
|
|
1993
|
|
7 |
p. 1095-1096
|
artikel
|
| 49 |
Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family
|
Kumar, Shrawan
|
|
1992
|
|
7 |
p. 491-495
|
artikel
|
| 50 |
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7
|
Olson, Timothy M.
|
|
1993
|
|
7 |
p. 869-873
|
artikel
|
| 51 |
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22
|
Wapenaar, Martin C.
|
|
1994
|
|
7 |
p. 1155-1161
|
artikel
|
| 52 |
A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene
|
kruger, Warren D.
|
|
1995
|
|
7 |
p. 1155-1161
|
artikel
|
| 53 |
Banl and Pvull polymorphisms in intron 2 of selection E (SELE)
|
Powers, Patricia K.
|
|
1993
|
|
7 |
p. 1082-1082
|
artikel
|
| 54 |
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
|
Hamosh, Ada
|
|
1992
|
|
7 |
p. 542-544
|
artikel
|
| 55 |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1
|
Purandare, Smita M.
|
|
1994
|
|
7 |
p. 1109-1115
|
artikel
|
| 56 |
Characterization of a human α1-antitrypsin null allele involving aberrant mRNA splicing
|
E.Laubach, Victor
|
|
1993
|
|
7 |
p. 1001-1005
|
artikel
|
| 57 |
Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease
|
Tümer, Zeynep
|
|
1992
|
|
7 |
p. 483-489
|
artikel
|
| 58 |
Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene
|
Ainsworth, Peter
|
|
1994
|
|
7 |
p. 1179-1181
|
artikel
|
| 59 |
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
|
Labelle, Yves
|
|
1993
|
|
7 |
p. 941-946
|
artikel
|
| 60 |
Cloning and characterization of the human choroideremia gene
|
Bokhoven, Hans van
|
|
1994
|
|
7 |
p. 1041-1046
|
artikel
|
| 61 |
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient
|
Greger, Valerie
|
|
1993
|
|
7 |
p. 921-924
|
artikel
|
| 62 |
Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4
|
Zuo, Jlan
|
|
1993
|
|
7 |
p. 889-899
|
artikel
|
| 63 |
CORRIGENDUM
|
Hassett, C.
|
|
1994
|
|
7 |
p. 1214-1214
|
artikel
|
| 64 |
Corrigendum
|
|
|
1995
|
|
7 |
p. 1241-1241
|
artikel
|
| 65 |
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
|
Nigro, Vincenzo
|
|
1992
|
|
7 |
p. 517-520
|
artikel
|
| 66 |
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis
|
Hiort, Olaf
|
|
1994
|
|
7 |
p. 1163-1166
|
artikel
|
| 67 |
Dinucleotide repeat polymorphism at D1S556
|
Weston, M.D.
|
|
1994
|
|
7 |
p. 1211-1211
|
artikel
|
| 68 |
Dinucleotide repeat polymorphism at the D11S982E locus
|
Xiao, Hong
|
|
1993
|
|
7 |
p. 1081-1081
|
artikel
|
| 69 |
Dinucleotide repeat polymorphism at the D9SI47E locus
|
Polymeropoulos, Mihael H.
|
|
1992
|
|
7 |
p. 549-549
|
artikel
|
| 70 |
Dinucleotide repeat polymorphism at the D7S476 locus
|
Xiao, Hong
|
|
1992
|
|
7 |
p. 549-549
|
artikel
|
| 71 |
Dinucleotide repeat polymorphism at the D18S19 locus
|
W.Bare, John
|
|
1992
|
|
7 |
p. 553-553
|
artikel
|
| 72 |
Dinucleotide repeat polymorphism at the D6S348 locus
|
Kansara, M.S.
|
|
1993
|
|
7 |
p. 1085-1085
|
artikel
|
| 73 |
Dinucleotide repeat polymorphism at the D6S510 locus
|
Gandon, G.
|
|
1994
|
|
7 |
p. 1210-1210
|
artikel
|
| 74 |
Dinucleotide repeat polymorphism at the DXS1146 locus
|
Hong, Hee-Kyung
|
|
1993
|
|
7 |
p. 1078-1078
|
artikel
|
| 75 |
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p
|
Dollfus, H.
|
|
1993
|
|
7 |
p. 1081-1081
|
artikel
|
| 76 |
Dinucleotide repeat polymorphism at the locus D13S231
|
Saksova, Ludmila
|
|
1993
|
|
7 |
p. 1082-1082
|
artikel
|
| 77 |
Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)
|
Velasco, Eladio
|
|
1992
|
|
7 |
p. 552-552
|
artikel
|
| 78 |
Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41
|
Weston, M.D.
|
|
1994
|
|
7 |
p. 1212-1212
|
artikel
|
| 79 |
Dinucleotide repeat polymorphism in the human thyroid hormone receptor α gene (THRA1) on chromosome 17
|
Sakurai, A.
|
|
1992
|
|
7 |
p. 553-553
|
artikel
|
| 80 |
Dinucleotide repeat polymorphism in the TGFB2 gene
|
Weston, M.D.
|
|
1994
|
|
7 |
p. 1211-1211
|
artikel
|
| 81 |
Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci
|
Tagle, Danilo A.
|
|
1993
|
|
7 |
p. 1077-1077
|
artikel
|
| 82 |
Dinucleotide repeat polymorphisms at the D11S439 and HBB loci
|
Hauge, X. Y.
|
|
1992
|
|
7 |
p. 548-548
|
artikel
|
| 83 |
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1
|
Rosen, D.R.
|
|
1992
|
|
7 |
p. 547-547
|
artikel
|
| 84 |
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35
|
Pasterls, N.German
|
|
1993
|
|
7 |
p. 953-959
|
artikel
|
| 85 |
Double mutant alleles: are they rare?
|
Savov, Alexey
|
|
1995
|
|
7 |
p. 1169-1171
|
artikel
|
| 86 |
Erratum
|
Tamaki, K.
|
|
1992
|
|
7 |
p. 558-558
|
artikel
|
| 87 |
Erratum
|
|
|
1995
|
|
7 |
p. 1241-1241
|
artikel
|
| 88 |
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
|
Takiyama, Y.
|
|
1995
|
|
7 |
p. 1137-1146
|
artikel
|
| 89 |
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
|
Sudbrak, R.
|
|
1993
|
|
7 |
p. 857-862
|
artikel
|
| 90 |
Exclusion of the involvement of all known Retinitis Pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
|
Kumar-Singh, Rajendra
|
|
1993
|
|
7 |
p. 875-878
|
artikel
|
| 91 |
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
|
Górecki, Dariusz C.
|
|
1992
|
|
7 |
p. 505-510
|
artikel
|
| 92 |
Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development
|
Schmitt, Ina
|
|
1995
|
|
7 |
p. 1173-1182
|
artikel
|
| 93 |
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
|
Rosslter, Judith Pratt
|
|
1994
|
|
7 |
p. 1035-1039
|
artikel
|
| 94 |
Functional complementation in mouse — human radiation hybrids assigns the putative murine scid gene to the pericentric region of human chromosome 8
|
Komatsu, Kenshi
|
|
1993
|
|
7 |
p. 1031-1034
|
artikel
|
| 95 |
Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
|
lles, David E.
|
|
1993
|
|
7 |
p. 863-868
|
artikel
|
| 96 |
Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28
|
Kaneko, Kiyotoshi
|
|
1992
|
|
7 |
p. 529-533
|
artikel
|
| 97 |
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
|
Pereira, Lygia
|
|
1993
|
|
7 |
p. 961-968
|
artikel
|
| 98 |
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
|
Koiwai, Osamu
|
|
1995
|
|
7 |
p. 1183-1186
|
artikel
|
| 99 |
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
|
Ramsay, Michele
|
|
1993
|
|
7 |
p. 1007-1014
|
artikel
|
| 100 |
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
|
Wöhrle, Doris
|
|
1995
|
|
7 |
p. 1147-1153
|
artikel
|
| 101 |
Human Bg/ll/Bc/l RFLP recognized by 3' region of human MAP 2 gene probe
|
Ding, Yuan
|
|
1993
|
|
7 |
p. 1080-1080
|
artikel
|
| 102 |
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene
|
Nakahashi, Yoshitsugu
|
|
1993
|
|
7 |
p. 1069-1070
|
artikel
|
| 103 |
Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis
|
Paul, Philip
|
|
1993
|
|
7 |
p. 925-931
|
artikel
|
| 104 |
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system
|
Franchis, Raffaella de
|
|
1994
|
|
7 |
p. 1103-1108
|
artikel
|
| 105 |
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
|
W.Prior, Thomas
|
|
1994
|
|
7 |
p. 1173-1174
|
artikel
|
| 106 |
Identification of a novel germline mutation in a FAP family
|
Gebert, Johannes F.
|
|
1994
|
|
7 |
p. 1167-1168
|
artikel
|
| 107 |
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing
|
Blanquet, Véronique
|
|
1993
|
|
7 |
p. 975-979
|
artikel
|
| 108 |
Identification of the L927P and ΔL1260 mutations in the CFTR gene
|
Hermans, Caroline J.
|
|
1994
|
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7 |
p. 1199-1200
|
artikel
|
| 109 |
Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8
|
Chevalier-Porst, F.
|
|
1993
|
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7 |
p. 1071-1072
|
artikel
|
| 110 |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
|
Kolluri, Rikki
|
|
1995
|
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7 |
p. 1119-1126
|
artikel
|
| 111 |
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
|
Naylor, Jennifer A.
|
|
1995
|
|
7 |
p. 1217-1224
|
artikel
|
| 112 |
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae
|
Tribioli, C.
|
|
1994
|
|
7 |
p. 1061-1067
|
artikel
|
| 113 |
Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene
|
D.Briggs, Michael
|
|
1993
|
|
7 |
p. 1087-1087
|
artikel
|
| 114 |
Localisation of a gene for chondrocalcinosis to chromosome 5p
|
Hughes, Anne E.
|
|
1995
|
|
7 |
p. 1225-1228
|
artikel
|
| 115 |
Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q
|
Ikeda, Shigaku
|
|
1994
|
|
7 |
p. 1147-1150
|
artikel
|
| 116 |
Malignant hyperthermia hots up!
|
Johnson, Keith
|
|
1993
|
|
7 |
p. 849-849
|
artikel
|
| 117 |
Mapping of genes predisposing to idiopathic generalized epilepsy
|
Zara, Federico
|
|
1995
|
|
7 |
p. 1201-1207
|
artikel
|
| 118 |
Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST
|
Lepplg, Kathleen A.
|
|
1993
|
|
7 |
p. 883-887
|
artikel
|
| 119 |
Mapping the Von Hippel — Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis
|
Richards, Frances M.
|
|
1993
|
|
7 |
p. 879-882
|
artikel
|
| 120 |
Maternal anticipation of DRPLA
|
Aoki, Masashi
|
|
1994
|
|
7 |
p. 1197-1198
|
artikel
|
| 121 |
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers
|
Morral, Núria
|
|
1993
|
|
7 |
p. 1015-1022
|
artikel
|
| 122 |
Mismatch PCR: a rapid method to screen for the Pro207 → Leu mutation in the lipoprotein lipase (LPL) gene
|
M.Bijvoet, Saskia
|
|
1992
|
|
7 |
p. 541-541
|
artikel
|
| 123 |
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements
|
Upadhyaya, M.
|
|
1993
|
|
7 |
p. 981-987
|
artikel
|
| 124 |
Molecular definition of the extreme size polymorphism in apolipoprotein(a)
|
Lackner, Carolin
|
|
1993
|
|
7 |
p. 933-940
|
artikel
|
| 125 |
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors
|
Pedone, Paolo V.
|
|
1994
|
|
7 |
p. 1117-1121
|
artikel
|
| 126 |
Mutation analysis in patients with the typical form of Anderson — Fabry disease
|
Davies, Joanna P.
|
|
1993
|
|
7 |
p. 1051-1053
|
artikel
|
| 127 |
Mutations in the candidate gene for Norrie disease
|
Berger, Wolfgang
|
|
1992
|
|
7 |
p. 461-465
|
artikel
|
| 128 |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
|
Donis-Keller, Helen
|
|
1993
|
|
7 |
p. 851-856
|
artikel
|
| 129 |
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
|
Bokhoven, Hans van
|
|
1994
|
|
7 |
p. 1047-1051
|
artikel
|
| 130 |
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P
|
Uchiyama, Atsushi
|
|
1994
|
|
7 |
p. 1183-1184
|
artikel
|
| 131 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
|
7 |
p. 1089-1093
|
artikel
|
| 132 |
Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7
|
Yokotani, Noboru
|
|
1993
|
|
7 |
p. 1037-1039
|
artikel
|
| 133 |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
|
Park, Woo-Jin
|
|
1995
|
|
7 |
p. 1229-1233
|
artikel
|
| 134 |
Oligonucleotide probes for the analysis of specific repetitive DNA sequences by fluorescence in situ hybridization
|
Matera, A. Gregory
|
|
1992
|
|
7 |
p. 535-539
|
artikel
|
| 135 |
Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23
|
M.McConville, Carmel
|
|
1993
|
|
7 |
p. 969-974
|
artikel
|
| 136 |
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
|
Tassabehjl, M.
|
|
1994
|
|
7 |
p. 1069-1074
|
artikel
|
| 137 |
PAX6 mutations in aniridia
|
M.Hanson, Isabel
|
|
1993
|
|
7 |
p. 915-920
|
artikel
|
| 138 |
Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome
|
Mazzarella, Richard
|
|
1994
|
|
7 |
p. 1095-1101
|
artikel
|
| 139 |
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
|
Novelletto, Andrea
|
|
1994
|
|
7 |
p. 1129-1132
|
artikel
|
| 140 |
Polymorphism in exon M7 of the PTHR gene
|
Schipani, E.
|
|
1994
|
|
7 |
p. 1210-1210
|
artikel
|
| 141 |
Polymorphism in the GALNS gene
|
Tomatsu, S.
|
|
1994
|
|
7 |
p. 1208-1208
|
artikel
|
| 142 |
Positional cloning uncovers a new old oncogene
|
Frischauf, Anna-Maria
|
|
1993
|
|
7 |
p. 847-848
|
artikel
|
| 143 |
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
|
Heine, Ronald
|
|
1994
|
|
7 |
p. 1123-1128
|
artikel
|
| 144 |
Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene
|
Naito, Etsuo
|
|
1994
|
|
7 |
p. 1193-1194
|
artikel
|
| 145 |
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
|
Knappskog, Per M.
|
|
1995
|
|
7 |
p. 1209-1212
|
artikel
|
| 146 |
Segregation of the fragile X mutation from an affected male to his normal daughter
|
Willems, Patrick J.
|
|
1992
|
|
7 |
p. 511-515
|
artikel
|
| 147 |
Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients
|
Johnston, Janet
|
|
1993
|
|
7 |
p. 1045-1046
|
artikel
|
| 148 |
Taql polymorphisms at the annexin VIII locus (ANX8)
|
Chambers, J.A.
|
|
1992
|
|
7 |
p. 550-550
|
artikel
|
| 149 |
Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12–q22
|
Flejter, Wendy L.
|
|
1993
|
|
7 |
p. 1080-1080
|
artikel
|
| 150 |
Tetranucleotide repeat polymorphism at the D8S344 locus
|
Ward, Kenneth
|
|
1993
|
|
7 |
p. 1087-1087
|
artikel
|
| 151 |
Tetranucleotide repeat polymorphism at the D8S639 locus
|
Nelson, L.
|
|
1994
|
|
7 |
p. 1209-1209
|
artikel
|
| 152 |
The detection of a VNTR at the Huntington disease genetic marker D4S10
|
Cariock, Leon
|
|
1993
|
|
7 |
p. 1079-1079
|
artikel
|
| 153 |
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions
|
Wapenaar, Martin C.
|
|
1993
|
|
7 |
p. 947-952
|
artikel
|
| 154 |
The genomic structure of the human skeletal muscle sodium channel gene
|
I.McClatchey, Andrea
|
|
1992
|
|
7 |
p. 521-527
|
artikel
|
| 155 |
The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
|
Christiano, Angela M.
|
|
1992
|
|
7 |
p. 475-481
|
artikel
|
| 156 |
The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients
|
Schloesser, Manfred
|
|
1995
|
|
7 |
p. 1235-1237
|
artikel
|
| 157 |
The state of DNA methylation in the promoter and exon 1 regions of the human gene for the interleukin-2 receptor α chain (IL-2Rα) in various cell types
|
Behn-Krappa, Annett
|
|
1993
|
|
7 |
p. 993-999
|
artikel
|
| 158 |
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
|
Talbot, C.Conover Jr
|
|
1995
|
|
7 |
p. 1193-1199
|
artikel
|
| 159 |
Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100
|
Carison, K.M.
|
|
1994
|
|
7 |
p. 1207-1207
|
artikel
|
| 160 |
Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene
|
Blanquet, Véronique
|
|
1994
|
|
7 |
p. 1185-1186
|
artikel
|
| 161 |
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa
|
Fuchs, S.
|
|
1994
|
|
7 |
p. 1203-1203
|
artikel
|
| 162 |
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→ Pro)
|
Bernardi, F.
|
|
1994
|
|
7 |
p. 1175-1177
|
artikel
|
| 163 |
Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus
|
Byth, Barbara C.
|
|
1993
|
|
7 |
p. 1085-1085
|
artikel
|
| 164 |
Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor
|
Baldazzl, L.
|
|
1994
|
|
7 |
p. 1169-1170
|
artikel
|
| 165 |
Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency
|
Soria, José Manuel
|
|
1994
|
|
7 |
p. 1205-1206
|
artikel
|
| 166 |
Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
|
Enayat, Z.E.
|
|
1995
|
|
7 |
p. 1239-1240
|
artikel
|
| 167 |
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
|
Shelbourne, Peggy
|
|
1992
|
|
7 |
p. 467-473
|
artikel
|
| 168 |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
|
Derry, Jonathan M.J.
|
|
1995
|
|
7 |
p. 1127-1135
|
artikel
|
| 169 |
Xhol and Sphl RFLPs in the GALNS gene
|
Tomatsu, S.
|
|
1994
|
|
7 |
p. 1208-1208
|
artikel
|
| 170 |
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions
|
Huber, Irene
|
|
1994
|
|
7 |
p. 1151-1154
|
artikel
|
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