| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine β-hydroxylase locus
|
Nahmias, Joseph
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1992
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4 |
p. 286-286
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artikel
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| 2 |
ADDITIONAL INFORMATION
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1994
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4 |
p. 684-684
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artikel
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| 3 |
A further tetranucleotide repeat polymorphism in the vWF gene
|
Kimpton, C.
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1992
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4 |
p. 287-287
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artikel
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| 4 |
Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers
|
Arakawa, Hirofuml
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1994
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4 |
p. 565-568
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artikel
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| 5 |
A microsatellite, D8S602, adjacent to the MSR gene
|
Schmidt, L.
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1994
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4 |
p. 679-679
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artikel
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| 6 |
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
|
Fuchs, S.
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1994
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4 |
p. 655-656
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artikel
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| 7 |
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
|
Burn, Timothy C.
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1995
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4 |
p. 575-582
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artikel
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| 8 |
An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q
|
Sander, A.K.
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1992
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4 |
p. 288-288
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artikel
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| 9 |
An intragenic Taql RFLP at the PAX5 locus
|
Vořechovský, I.
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1994
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4 |
p. 681-681
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artikel
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| 10 |
A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1
|
Campbell, Ian G.
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1994
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4 |
p. 589-594
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artikel
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| 11 |
A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
|
Katsumata, Noriyuki
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1995
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4 |
p. 745-746
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artikel
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| 12 |
A PCR method for detecting polymorphism in the TGFA gene
|
Basart, A.M.
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1994
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4 |
p. 678-678
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artikel
|
| 13 |
A point mutation in exon 2 of the CD4O ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M
|
Ramesh, Narayanaswamy
|
|
1995
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4 |
p. 759-761
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artikel
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| 14 |
A polymorphic dinucleotide repeat at the D10S141 locus
|
Love, D.R.
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1993
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4 |
p. 491-491
|
artikel
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| 15 |
A polymorphic dinucleotide repeat at the ZNF22 locus
|
Love, D.R.
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1993
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4 |
p. 491-491
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artikel
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| 16 |
A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci
|
Mahtani, Melanie M.
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|
1993
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4 |
p. 431-437
|
artikel
|
| 17 |
A Pvull-polymorphism within the AXL gene on chromosome 19q13.1
|
Linz, Ute
|
|
1993
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4 |
p. 492-492
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artikel
|
| 18 |
A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene
|
Andresen, Brage S.
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1993
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4 |
p. 488-488
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artikel
|
| 19 |
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)
|
Bassi, Maria T.
|
|
1994
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4 |
p. 647-648
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artikel
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| 20 |
Author index
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1993
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4 |
p. 495-495
|
artikel
|
| 21 |
Author index
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|
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1995
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4 |
p. 781-782
|
artikel
|
| 22 |
CA repeat polymorphism at the TCF8 locus
|
Wardlaw, J.C.
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1994
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4 |
p. 680-680
|
artikel
|
| 23 |
CFTR haplotype backgrounds on normal and mutant CFTR genes
|
Cuppens, Harry
|
|
1994
|
|
4 |
p. 607-614
|
artikel
|
| 24 |
Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene
|
Purandare, Smita M.
|
|
1995
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|
4 |
p. 767-768
|
artikel
|
| 25 |
Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene
|
Schrick, Jeffrey J.
|
|
1995
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4 |
p. 559-567
|
artikel
|
| 26 |
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
|
Demczuk, S.
|
|
1995
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4 |
p. 551-558
|
artikel
|
| 27 |
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3
|
Tachibana, Masayoshl
|
|
1994
|
|
4 |
p. 553-557
|
artikel
|
| 28 |
Complex disease genetics gets more complex
|
|
|
1995
|
|
4 |
p. 499-500
|
artikel
|
| 29 |
CORRIGENDA
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1994
|
|
4 |
p. 684-685
|
artikel
|
| 30 |
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
|
Rodrigues, N.R.
|
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1995
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4 |
p. 631-634
|
artikel
|
| 31 |
Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene
|
Richards, Frances M.
|
|
1994
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4 |
p. 595-598
|
artikel
|
| 32 |
Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease
|
Davies, Joanna
|
|
1994
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|
4 |
p. 667-669
|
artikel
|
| 33 |
Dinucleotide repeat polymorphism at the D14S99E locus
|
Polymeropoulos, Mihael H.
|
|
1993
|
|
4 |
p. 490-490
|
artikel
|
| 34 |
Dinucleotide repeat polymorphism at the D5S356 locus
|
Polymeropoulos, Mihael
|
|
1992
|
|
4 |
p. 290-290
|
artikel
|
| 35 |
Dinucleotide repeat polymorphism at the D11S480 locus
|
Moffatt, M.F.
|
|
1993
|
|
4 |
p. 492-492
|
artikel
|
| 36 |
Dinucleotide repeat polymorphism at the D21S236 locus
|
Sharma, V.
|
|
1992
|
|
4 |
p. 289-289
|
artikel
|
| 37 |
Dinucleotide repeat polymorphism at the D3S1229 locus
|
Xiao, Hong
|
|
1992
|
|
4 |
p. 290-290
|
artikel
|
| 38 |
Dinucleotide repeat polymorphism at the D18S37 locus
|
Sharma, V.
|
|
1992
|
|
4 |
p. 289-289
|
artikel
|
| 39 |
Dinucleotide repeat polymorphism at the DXS1683 locus
|
Econs, M.J.
|
|
1994
|
|
4 |
p. 680-680
|
artikel
|
| 40 |
Dinucleotide repeat polymorphism at the human erythroid alpha-spectrin (SPTA1) mRNA gene detected using PCR
|
Bodfish, Paul
|
|
1992
|
|
4 |
p. 287-287
|
artikel
|
| 41 |
Dinucleotide repeat polymorphism in the IL2 and IL5RA genes
|
Epplen, C.
|
|
1994
|
|
4 |
p. 679-679
|
artikel
|
| 42 |
Dinucleotide repeat polymorphisms at the D2S108 and D2S109 loci
|
Todd, S.
|
|
1993
|
|
4 |
p. 490-490
|
artikel
|
| 43 |
Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci
|
Rogaev, E.I.
|
|
1992
|
|
4 |
p. 285-285
|
artikel
|
| 44 |
D20S213, a microsatellite polymorphism near the D20S16 locus
|
Howard, T.D.
|
|
1994
|
|
4 |
p. 677-677
|
artikel
|
| 45 |
D10S681, a microsatellite polymorphism near the RET locus
|
Schuster, M.K.
|
|
1994
|
|
4 |
p. 677-677
|
artikel
|
| 46 |
ERRATA
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|
|
1994
|
|
4 |
p. 686-687
|
artikel
|
| 47 |
Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome
|
Sander, A.
|
|
1994
|
|
4 |
p. 575-578
|
artikel
|
| 48 |
Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification
|
Caron, Huib
|
|
1995
|
|
4 |
p. 535-539
|
artikel
|
| 49 |
Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport
|
Bächner, Dietmar
|
|
1995
|
|
4 |
p. 701-708
|
artikel
|
| 50 |
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2
|
Dixon, Michael J.
|
|
1992
|
|
4 |
p. 249-253
|
artikel
|
| 51 |
High resolution ordering of YAC contigs using extended chromatin and chromosomes
|
Haaf, Thomas
|
|
1994
|
|
4 |
p. 629-633
|
artikel
|
| 52 |
Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent
|
Romey, Marie-Catherine
|
|
1994
|
|
4 |
p. 661-662
|
artikel
|
| 53 |
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level
|
Kozich, Viktor
|
|
1995
|
|
4 |
p. 623-629
|
artikel
|
| 54 |
Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population
|
Cuppens, Harry
|
|
1992
|
|
4 |
p. 283-284
|
artikel
|
| 55 |
Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others
|
Jones, Cheryl T.
|
|
1994
|
|
4 |
p. 649-650
|
artikel
|
| 56 |
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2
|
Budarf, Marcia L.
|
|
1995
|
|
4 |
p. 763-766
|
artikel
|
| 57 |
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family
|
Coucke, Paul
|
|
1994
|
|
4 |
p. 671-673
|
artikel
|
| 58 |
Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)
|
Jin, Hong
|
|
1995
|
|
4 |
p. 693-700
|
artikel
|
| 59 |
Identification of 12 novel mutations in the CFTR gene
|
Audrézet, M.P.
|
|
1993
|
|
4 |
p. 496-496
|
artikel
|
| 60 |
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
|
Pignatti, Pier Franco
|
|
1995
|
|
4 |
p. 635-639
|
artikel
|
| 61 |
Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome
|
Bondeson, Maire-Louise
|
|
1995
|
|
4 |
p. 615-621
|
artikel
|
| 62 |
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3
|
Yamakawa, Kazuhiro
|
|
1995
|
|
4 |
p. 709-716
|
artikel
|
| 63 |
Isolation of human simple repeat loci by hybridization selection
|
Armour, John A.L.
|
|
1994
|
|
4 |
p. 599-605
|
artikel
|
| 64 |
Lack of independence between five DNA polymorphisms in the NF1 gene
|
Messiaen, Ludwine
|
|
1993
|
|
4 |
p. 485-485
|
artikel
|
| 65 |
Localization of craniosynostosis Adelaide type to 4p16
|
Hollway, Georgina E.
|
|
1995
|
|
4 |
p. 681-683
|
artikel
|
| 66 |
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12
|
Morris, A.A.M.
|
|
1995
|
|
4 |
p. 747-749
|
artikel
|
| 67 |
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients
|
Tomatsu, Shunji
|
|
1995
|
|
4 |
p. 741-743
|
artikel
|
| 68 |
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
|
Weber, Angela
|
|
1994
|
|
4 |
p. 585-588
|
artikel
|
| 69 |
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation
|
Wang, Jianzhou
|
|
1995
|
|
4 |
p. 599-606
|
artikel
|
| 70 |
Polymorphism of the CTLA1 gene on chromosome 14
|
Nguyen, V.
|
|
1992
|
|
4 |
p. 286-286
|
artikel
|
| 71 |
Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain
|
Becker, Kavin G.
|
|
1995
|
|
4 |
p. 685-691
|
artikel
|
| 72 |
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome
|
Wang, Mei
|
|
1995
|
|
4 |
p. 607-613
|
artikel
|
| 73 |
RFLP detected by a genomic probe from the human X-Iinked proteolipid protein gene, PLP
|
Raskind, Wendy H.
|
|
1992
|
|
4 |
p. 288-288
|
artikel
|
| 74 |
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347
|
Macke, Jennifer P.
|
|
1995
|
|
4 |
p. 775-776
|
artikel
|
| 75 |
Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing
|
A.L.Bayne, Rosemary
|
|
1994
|
|
4 |
p. 539-546
|
artikel
|
| 76 |
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
|
Ueno, Shu-ichi
|
|
1995
|
|
4 |
p. 663-666
|
artikel
|
| 77 |
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
|
Knebelmann, Bertrand
|
|
1995
|
|
4 |
p. 675-679
|
artikel
|
| 78 |
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
|
Peral, Belén
|
|
1995
|
|
4 |
p. 569-574
|
artikel
|
| 79 |
Taql polymorphism in intron 2 of the GCDH gene
|
Haworth, J.C.
|
|
1994
|
|
4 |
p. 678-678
|
artikel
|
| 80 |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients
|
Akli, S.
|
|
1993
|
|
4 |
p. 496-496
|
artikel
|
| 81 |
Tetranucleotide repeat polymorphism at the D8S322 locus
|
Fillmore, K.
|
|
1994
|
|
4 |
p. 681-681
|
artikel
|
| 82 |
Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22
|
Miller, Andrew P.
|
|
1995
|
|
4 |
p. 731-739
|
artikel
|
| 83 |
Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution
|
Breen, Maria
|
|
1994
|
|
4 |
p. 621-627
|
artikel
|
| 84 |
Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21
|
Shoshanl, Tzipora
|
|
1994
|
|
4 |
p. 657-658
|
artikel
|
| 85 |
Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides
|
Raap, A.K.
|
|
1995
|
|
4 |
p. 529-534
|
artikel
|
| 86 |
Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome
|
Zhang, Chunfang
|
|
1995
|
|
4 |
p. 751-754
|
artikel
|
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