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 |
|
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 |
|
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 |
|
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 |