| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 22-bp deletion in the coding region of the cystic fibrosis gene
|
Dean, Michael
|
|
1992
|
13 |
1 |
p. 235-236
2 p.
|
artikel
|
| 2 |
Additional RFLPs at D10S94 and the Development of PCR-based variant detection systems: Implications for disease genotype prediction in MEN 2A, MEN 2B, and MTC1 families
|
Brooks-Wilson, Angela R.
|
|
1992
|
13 |
1 |
p. 233-234
2 p.
|
artikel
|
| 3 |
A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1
|
Purdue, P.Edward
|
|
1992
|
13 |
1 |
p. 215-218
4 p.
|
artikel
|
| 4 |
A high-resolution cytogenetic map of 168 cosmid DNA markers for human chromosome 11
|
Hori, Tada-Aki
|
|
1992
|
13 |
1 |
p. 129-133
5 p.
|
artikel
|
| 5 |
A 14-Mb physical map of the region at chromosome 11q13 harboring the MEN 1 locus and the tumor amplicon region
|
Tanigami, Akira
|
|
1992
|
13 |
1 |
p. 16-20
5 p.
|
artikel
|
| 6 |
A minisatellite and a microsatellite polymorphism within 1.5 kb at the human muscle glycogen phosphorylase (PYGM) locus can be amplified by PCR and have combined informativeness of PIC 0.95
|
Iwasaki, Hiroyuki
|
|
1992
|
13 |
1 |
p. 7-15
9 p.
|
artikel
|
| 7 |
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A
|
Kornreich, Ruth
|
|
1992
|
13 |
1 |
p. 70-74
5 p.
|
artikel
|
| 8 |
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
|
Sharp, N.J.H.
|
|
1992
|
13 |
1 |
p. 115-121
7 p.
|
artikel
|
| 9 |
An unusually large (CA) n repeat in the region of divergence between subtelomeric alleles of human chromosome 16p
|
Wilkie, Andrew O.M.
|
|
1992
|
13 |
1 |
p. 81-88
8 p.
|
artikel
|
| 10 |
Assignment of human erythroid δ-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;Autosome translocations
|
Cotter, Philip D.
|
|
1992
|
13 |
1 |
p. 211-212
2 p.
|
artikel
|
| 11 |
Assignment of the human α 2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids
|
Welch, Susan K.
|
|
1992
|
13 |
1 |
p. 213-214
2 p.
|
artikel
|
| 12 |
Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization
|
Murty, V.V.V.S.
|
|
1992
|
13 |
1 |
p. 227-229
3 p.
|
artikel
|
| 13 |
Characterization of radiation/fusion hybrids containing parts of human chromosome 10 and their use in mapping chromosome 10-specific probes
|
Rothschild, Cynthia B.
|
|
1992
|
13 |
1 |
p. 25-34
10 p.
|
artikel
|
| 14 |
Characterization of the allelic differences in the mouse cardiac α-myosin heavy chain coding sequence
|
Quinn-Laquer, Brigid K.
|
|
1992
|
13 |
1 |
p. 176-188
13 p.
|
artikel
|
| 15 |
Cloning of human lysyl hydroxylase: Complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3→p36.2
|
Hautala, Timo
|
|
1992
|
13 |
1 |
p. 62-69
8 p.
|
artikel
|
| 16 |
Close linkage between bovine prolactin and BoLA-DRB3 genes: Genetic mapping in cattle by single sperm typing
|
Lewin, Harris A.
|
|
1992
|
13 |
1 |
p. 44-48
5 p.
|
artikel
|
| 17 |
Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1
|
Brown, Kathryn A.
|
|
1992
|
13 |
1 |
p. 189-193
5 p.
|
artikel
|
| 18 |
Cosmid linking clones localized to the long arm of human chromosome 11
|
Hermanson, G.G.
|
|
1992
|
13 |
1 |
p. 134-143
10 p.
|
artikel
|
| 19 |
Detailed analysis of an amplified region at chromosome 11q13 in malignant tumors
|
Tanigami, Akira
|
|
1992
|
13 |
1 |
p. 21-24
4 p.
|
artikel
|
| 20 |
Detection of an IVS-1 3′ end (G-C) β-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject
|
Renda, M.
|
|
1992
|
13 |
1 |
p. 234-235
2 p.
|
artikel
|
| 21 |
Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers
|
Somlo, Stefan
|
|
1992
|
13 |
1 |
p. 152-158
7 p.
|
artikel
|
| 22 |
Genetic linkage mapping of the m4 human muscarinic receptor (CHRM4)
|
Grewal, Raji P.
|
|
1992
|
13 |
1 |
p. 239-240
2 p.
|
artikel
|
| 23 |
Genetic mapping based on radiation hybrid data
|
Barrett, Jennifer H.
|
|
1992
|
13 |
1 |
p. 95-103
9 p.
|
artikel
|
| 24 |
Genomic structure of the locus associated with an insertional mutation in line 4 transgenic mice
|
Mark, W.H.
|
|
1992
|
13 |
1 |
p. 159-166
8 p.
|
artikel
|
| 25 |
Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1)
|
Himmelbauer, Heinz
|
|
1992
|
13 |
1 |
p. 35-38
4 p.
|
artikel
|
| 26 |
Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus
|
Wang, Tao
|
|
1992
|
13 |
1 |
p. 230-231
2 p.
|
artikel
|
| 27 |
Immunoglobulin CH gene family in hominoids and its evolutionary history
|
Kawamura, Shohji
|
|
1992
|
13 |
1 |
p. 194-200
7 p.
|
artikel
|
| 28 |
Linkage mapping of the D8S133 locus to chromosome 8p using a highly informative, polymorphic, complex dinucleotide repeat
|
Wood, Stephen
|
|
1992
|
13 |
1 |
p. 232-
1 p.
|
artikel
|
| 29 |
Localization of the human eosinophil Charcot-Leyden crystal protein (Lysophospholipase) gene (CLC) to chromosome 19 and the human ribonuclease 2 (eosinophil-derived neurotoxin) and ribonuclease 3 (eosinophil cationic protein) genes (RNS2 and RNS3) to chromosome 14
|
Mastrianni, D.M.
|
|
1992
|
13 |
1 |
p. 240-242
3 p.
|
artikel
|
| 30 |
Nucleotide sequence of mouse Sry gene is different between Y chromosomes originating from Mus musculus musculus and Mus musculus domesticus
|
Kunieda, Tetsuo
|
|
1992
|
13 |
1 |
p. 236-237
2 p.
|
artikel
|
| 31 |
Organization, polymorphism, and molecular cytogenetics of chromosome-specific α-satellite DNA from the centromere of chromosome 2
|
Haaf, Thomas
|
|
1992
|
13 |
1 |
p. 122-128
7 p.
|
artikel
|
| 32 |
Physical mapping of genes to specific chromosomes in Dictyostelium discoideum
|
Kuspa, Adam
|
|
1992
|
13 |
1 |
p. 49-61
13 p.
|
artikel
|
| 33 |
Physical mapping of 14 new DNA markers isolated from the human distal Xp region
|
Wapenaar, M.C.
|
|
1992
|
13 |
1 |
p. 167-175
9 p.
|
artikel
|
| 34 |
Polymerase chain reaction-based genotyping for allotypic markers of immunoglobulin kappa shows allelic association of Km with kappa variable segment
|
Moxley, George
|
|
1992
|
13 |
1 |
p. 104-108
5 p.
|
artikel
|
| 35 |
Regional localization of human β-casein gene (CSN2) to 4pter-q21
|
Menon, Ravi S.
|
|
1992
|
13 |
1 |
p. 225-226
2 p.
|
artikel
|
| 36 |
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region
|
Gusella, James F.
|
|
1992
|
13 |
1 |
p. 75-80
6 p.
|
artikel
|
| 37 |
Shotgun polymerase chain reaction: Construction of clone libraries specific to a NotI fragment of flow-sorted human chromosome 22
|
Kawasaki, Kazuhiko
|
|
1992
|
13 |
1 |
p. 109-114
6 p.
|
artikel
|
| 38 |
Solid-phase minisequencing test reveals Asp187 → Asn (G654 → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis
|
Paunio, Tiina
|
|
1992
|
13 |
1 |
p. 237-239
3 p.
|
artikel
|
| 39 |
Somatic cell hybrid deletion map of human chromosome 18
|
Kline, Antonie D.
|
|
1992
|
13 |
1 |
p. 1-6
6 p.
|
artikel
|
| 40 |
Structure of the human TNF receptor 1 (p60) gene (TNRF1) and localization to chromosome 12p13
|
Fuchs, Peter
|
|
1992
|
13 |
1 |
p. 219-224
6 p.
|
artikel
|
| 41 |
The D4 dopamine receptor (DRD4) maps to distal 11p close to HRAS
|
Gelernter, J.
|
|
1992
|
13 |
1 |
p. 208-210
3 p.
|
artikel
|
| 42 |
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region
|
Germino, Gregory G.
|
|
1992
|
13 |
1 |
p. 144-151
8 p.
|
artikel
|
| 43 |
The generation of ordered sets of cosmid DNA clones from human chromosome region 11p
|
Heding, Ian J.J.P.
|
|
1992
|
13 |
1 |
p. 89-94
6 p.
|
artikel
|
| 44 |
The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome
|
Feo, Salvatore
|
|
1992
|
13 |
1 |
p. 201-207
7 p.
|
artikel
|
| 45 |
Wobbler, a mutation affecting motoneuron survival and gonadal functions in the mouse, maps to proximal chromosome 11
|
Kaupmann, Klemens
|
|
1992
|
13 |
1 |
p. 39-43
5 p.
|
artikel
|
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