HUMAN MOLECULAR GENETICS
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Table of contents
- 2093
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Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patientsMiniou, Pierre / Jeanpierre, Marc / Blanquet, Véronique et al. | 1994
- 2103
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DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalenceSquitieri, F. / Andrew, S.E. / Goldberg, Y.P. et al. | 1994
- 2115
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The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal XqterRitchie, Rachael J. / Knight, Samantha J.L. / Hirst, Mark C. et al. | 1994
- 2123
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Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3Jones, Christopher / Slljepcevic, Predrag / Marsh, Sharon et al. | 1994
- 2131
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A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration sitevan der Drift, Pauline / Chan, Alvin / van Roy, Nadine et al. | 1994
- 2137
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A YAC clone map spanning 7.5 megabases of human chromosome band Xq28Rogner, Ute C. / Kioschis, Petra / Wilke, Klaus et al. | 1994
- 2147
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Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophiliaBerg, Lutz-Peter / Scopes, Deborah A. / Alhaq, Anwar et al. | 1994
- 2153
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REPORTS: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneityRobin, Nathaniel H. / Feldman, George J. / Mitchell, Heather F. et al. | 1994
- 2159
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Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transitionSelelstad, Mark T. / Hebert, Joan M. / Lin, Alice A. et al. | 1994
- 2163
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Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneMulligan, Lois M. / Eng, Charts / Attlé, Tanla et al. | 1994
- 2169
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Somatic mutations of the von Hippel -- Lindau disease tumour suppressor gene in non-familial clear cell renal carcinomaFoster, Keith / Prowse, Amanda / van den Berg, Anke et al. | 1994
- 2175
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Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the {alpha}1 subunit of the inhibitory glycine receptorRees, Mark I. / Andrew, Martin / Jawad, Sudad et al. | 1994
- 2181
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The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermiaPhillips, Michael S. / Khanna, Vijay K. / De Leon, Stella et al. | 1994
- 2187
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Spectrum of small length germline mutations in the RB1 geneLohmann, Dletmar R. / Brandt, Birglt / Höpping, Wolfgang et al. | 1994
- 2195
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Genetic heterogeneity in familial malignant melanomaMacGeoch, Catriona / Bishop, Julia A.Newton / Batallle, Veronique et al. | 1994
- 2201
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Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helixForlino, A. / Zolezzi, F. / Valli, M. et al. | 1994
- 2207
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Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosityNöthen, Markus M. / Cichon, Sven / Hemmer, Susanne et al. | 1994
- 2213
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The effect of a single base pair deletion ({Delta}T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal {alpha}-glucosidase in patients with glycogen storage disease type IIHermans, Monique M.P. / De Graaff, Esther / Kroos, Marian A. et al. | 1994
- 2219
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A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene intervalChaib, Hassan / Lina-Granade, Geneviéve / Guilford, Parry et al. | 1994
- 2223
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Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragmentPaunlo, Tllna / Kangas, Hannele / Kalkklnen, Nisse et al. | 1994
- 2231
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Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (- 13T->G) mutation in a majority of patients and a novel IVS10 (+ 1GT -> CT) mutationHule, M.L. / Chen, A.S. / Tsujino, S. et al. | 1994
- 2237
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Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codonPeltola, Minna / Chiatayat, David / Peltonen, Leena et al. | 1994
- 2243
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Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutationsYamada, Yasukazu / Goto, Haruko / Murase, Takaji et al. | 1994
- 2247
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A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumorsGutiérrez, Marina I. / Bhatla, Kishor G. / Berreiro, Cristina et al. | 1994
- 2249
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Identification of seven rather infrequent and one novel CFTR mutation in the Belgian populationTeng, Hul / Cuppens, Harry / De Boeck, Christine et al. | 1994
- 2251
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Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levelsFolz, Rodney J. / Peno-Green, Laura / Crapo, James D. et al. | 1994
- 2255
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X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM geneFransen, Erik / Schrander-Stumpel, Connle / Vits, Lieve et al. | 1994
- 2257
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Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patientsLazar, Vladimir / Grandjouan, Sophie / Bognel, Caroline et al. | 1994
- 2261
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Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 geneKostrzewa, Markus / Burck-Lehmann, Uta / Müller, Ulrich et al. | 1994
- 2263
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Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)Gregor, P. / Hoff, M. / Holik, J. et al. | 1994
- 2263-a
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Identification of a polymorphism in exon 11 of the RET proto-oncogeneBugalho, M.J.M. / Cote, G. J. / Khorana, S. et al. | 1994
- 2264
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AnEcoRI RFLP in human phenol sulfotransferase genesHenkel, R. D. / Galindo, L. V. / Dooley, T. P. et al. | 1994
- 2264a
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A polymorphic dinucleotide repeat in the second intron of HUMCLCCurran, M / Keating, M et al. | 1994
- 2265
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Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13Mochizuki, H. / Prochazka, M. et al. | 1994
- 2265-a
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Dinucleotide repeat polymorphism adjacent to CDKN2Herbst, R. A. / Nobori, T. / Cavenee, W. K. et al. | 1994
- 2266
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A polymorphic dinucleotide repeat at the human HLA-F locusFullan, A. / Thomas, W. et al. | 1994
- 2266-a
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Taql polymorphism of the human MXI1 geneBova, G. S. / Wechsler, D. S. / Van Dang, C. et al. | 1994
- 2266b
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TaqI polymorphism of the human MXI1 geneBova, GS / Wechsler, DS / Van Dang, C et al. | 1994
- 2267
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A dinucleotide repeat polymorphism in the MYBPH geneWatkins, H. / MacRae, C.A. / Fischman, D.A. et al. | 1994
- 2267-a
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Hinfl polymorphism detected by FAEES3 cDNABora, P.S. / Smith, C.M. / Devor, E.J. et al. | 1994
- 2267b
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HinfI polymorphism detected by FAEES3 cDNABora, PS / Smith, CM / Devor, EJ et al. | 1994
- 2268
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Dinucleotide repeat polymorphism at the human biglycan (BGN) locusJust, W. / Rau, W. / Müller, R. et al. | 1994
- 2268-a
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DGGE polymorphism in intron 10 of MSH2, the HNPCC geneWijnen, J. / Fodde, R. / Khan, P. Meera et al. | 1994
- 2269
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Adhalin gene polymorphismAllamand, V. / Leturcq, F. / Piccoto, F. et al. | 1994
- 2269-a
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Tri- and tetranucleotide repeat polymorphism in the LIPA geneAslanidis, C. / Lackner, K.J. / Schmitz, G. et al. | 1994
- 2270
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Dinucleotide repeat polymorphism at the human TYRP1 locusBox, N.F. / Sturm, R.A. et al. | 1994
- 2271
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Author index| 1994
- 2273
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Subject Index| 1994