Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13 (English)
- New search for: Mochizuki, H.
- New search for: Prochazka, M.
- New search for: Mochizuki, H.
- New search for: Prochazka, M.
In:
Human molecular genetics
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3
, 12
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2265-
;
1994
- Article (Journal) / Electronic Resource
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Title:Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13
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Contributors:Mochizuki, H. ( author ) / Prochazka, M. ( author )
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Published in:Human molecular genetics ; 3, 12 ; 2265-
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Publisher:
- New search for: Oxford University Press
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Publication date:1994-12-01
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 3, Issue 12
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 2093
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Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patientsMiniou, Pierre / Jeanpierre, Marc / Blanquet, Véronique / Sibella, Valé rie / Bonneau, Dominique / Herbelin, Catherine / Fischer, Alain / Niveleau, Alain / Viegas-Péquignot, Evani 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. / Kremer, B. / Spence, N. / Zelsler, J. / Nichol, K. / Theilmann, J. / Greenberg, J. / Goto, J. 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. / Grewal, Prabhjit K. / Bobrow, Martin / Cross, Gareth S. / Davies, Kay E. 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 / Baker, Elizabeth / Langdon, Wallace Y. / Richards, Robert I. / Tunnacliffe, Alan 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 / Laureys, Geneviève / Westerveld, Andries / Speleman, Frank / Versteeg, Rogier 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 / Gong, Wellong / Pick, Elke / Dietrich, Alexander / Zechner, Ulrich / Hameister, Horst / Pragllola, Antonella / Herman, Gail E. 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 / Kakkar, Vijay V. / Cooper, David N. 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. / Lorenz, Peter / Wilroy, R.Sid / Zackal, Elaine H. / AIIanson, Judith E. / Reich, Elsa W. / Pfeiffer, Rudolf A. / Clarke, Lome A. 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. / UnderhllI, Peter A. / Ibrahlm, Muntaser / vollrath, Douglas / Cavalll-Storza, L.Luca 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 / Lyonnet, Stanislas / Marsh, Debbie J. / Hyland, Valentine J. / Robinson, Bruce G. / Frilling, Andrea / Verellen-Dumoulln, Christine / Safar, Anne 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 / Fleming, Stewart / Hulsbeek, Miriam M.F. / Crossey, Paul A. / Richards, Frances M. / Cairns, Paul / Affara, Nabeel A. / Ferguson-Smith, Malcolm A. 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 / Owen, Michael J. et al. | 1994
- 2181
-
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 / Frodls, Wanda / Britts, Beverley A. / MacLennan, David H. et al. | 1994
- 2187
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Spectrum of small length germline mutations in the RB1 geneLohmann, Dletmar R. / Brandt, Birglt / Höpping, Wolfgang / Passarge, Eberhard / Horsthemke, Bernhard et al. | 1994
- 2195
-
Genetic heterogeneity in familial malignant melanomaMacGeoch, Catriona / Bishop, Julia A.Newton / Batallle, Veronique / Bishop, D.Timothy / Frischauf, Anne-Maria / Melonl, Rolando / Cuzlck, Jack / Plnney, Elizabeth / Spurr, Nigel K. 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. / Pignatti, P.F. / Cetta, G. / Brunelli, P.C. / Mottes, M. et al. | 1994
- 2207
-
Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosityNöthen, Markus M. / Cichon, Sven / Hemmer, Susanne / Hebebrand, Johannes / Remschmidt, Helmut / Lehmkuhl, Gerd / Poustka, Fritz / Schmidt, Martin / Catalano, Marco / Fimmers, Rolf 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. / Mohkamsing, Serita / Eussen, Bert J. / Joosse, Marijke / Willemsen, Rob / Kleijer, Wim J. / Oostra, Ben A. / Reuser, Arnold J.J. et al. | 1994
- 2219
-
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 / Plauchu, Henri / Levilliers, Jacqueline / Morgon, Alain / Petit, Christine et al. | 1994
- 2223
-
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragmentPaunlo, Tllna / Kangas, Hannele / Kalkklnen, Nisse / Haltia, Matti / Palo, Jorma / Peltonen, Leena et al. | 1994
- 2231
-
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. / Shanske, S. / DiMauro, S. / Engel, A.G. / Hirschhorn, R. 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 / Jalanko, Anu et al. | 1994
- 2243
-
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutationsYamada, Yasukazu / Goto, Haruko / Murase, Takaji / Ogasawara, Nobuaki et al. | 1994
- 2247
-
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 / Spangler, Gordon / Schvartzmann, Enrique / Muriel, Federico Sackmann / Magrath, lan T. et al. | 1994
- 2249
-
Identification of seven rather infrequent and one novel CFTR mutation in the Belgian populationTeng, Hul / Cuppens, Harry / De Boeck, Christine / Cassiman, Jean-Jacques et al. | 1994
- 2251
-
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
-
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 / Coucke, Paul / Van Camp, Guy / Willems, Patrick J. 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 / Couturier, Daniel / Rougier, Philippe / Bellet, Dominique / Paillerets, Brigitte Bressac-de et al. | 1994
- 2261
-
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
-
Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)Gregor, P. / Hoff, M. / Holik, J. / Hadley, D. / Fang, N. / Coon, H. / Byerley, W. et al. | 1994
- 2263-a
-
Identification of a polymorphism in exon 11 of the RET proto-oncogeneBugalho, M.J.M. / Cote, G. J. / Khorana, S. / Schutz, P.N. / Gagel, R.F. et al. | 1994
- 2264
-
AnEcoRI RFLP in human phenol sulfotransferase genesHenkel, R. D. / Galindo, L. V. / Dooley, T. P. et al. | 1994
- 2264-a
-
A polymorphic dinucleotide repeat in the second intron of HUMCLCCurran, M. / Keating, M. et al. | 1994
- 2265
-
Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13Mochizuki, H. / Prochazka, M. et al. | 1994
- 2265-a
-
Dinucleotide repeat polymorphism adjacent to CDKN2Herbst, R. A. / Nobori, T. / Cavenee, W. K. / Carson, D. A. / Arden, K. C. et al. | 1994
- 2266
-
A polymorphic dinucleotide repeat at the human HLA-F locusFullan, A. / Thomas, W. et al. | 1994
- 2266-a
-
Taql polymorphism of the human MXI1 geneBova, G. S. / Wechsler, D. S. / Van Dang, C. / Isaacs, W. B. et al. | 1994
- 2266b
-
TaqI polymorphism of the human MXI1 geneBova, GS / Wechsler, DS / Van Dang, C / Isaacs, WB et al. | 1994
- 2267
-
A dinucleotide repeat polymorphism in the MYBPH geneWatkins, H. / MacRae, C.A. / Fischman, D.A. / Seidman, J.G. / Seidman, C.E. et al. | 1994
- 2267-a
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Hinfl polymorphism detected by FAEES3 cDNABora, P.S. / Smith, C.M. / Devor, E.J. / Cloninger, C.R. / Gerhard, D.S. et al. | 1994
- 2267b
-
HinfI polymorphism detected by FAEES3 cDNABora, PS / Smith, CM / Devor, EJ / Cloninger, CR / Gerhard, DS et al. | 1994
- 2268
-
Dinucleotide repeat polymorphism at the human biglycan (BGN) locusJust, W. / Rau, W. / Müller, R. / Geerkens, C. / Vogel, W. et al. | 1994
- 2268-a
-
DGGE polymorphism in intron 10 of MSH2, the HNPCC geneWijnen, J. / Fodde, R. / Khan, P. Meera et al. | 1994
- 2269
-
Adhalin gene polymorphismAllamand, V. / Leturcq, F. / Piccoto, F. / Jeanpierre, M. / Azibi, K. / Roberds, S.L. / Lim, L.E. / Campbell, K.P. / Beckmann, J.S. / Kaplan, J.C. et al. | 1994
- 2269-a
-
Tri- and tetranucleotide repeat polymorphism in the LIPA geneAslanidis, C. / Lackner, K.J. / Schmitz, G. et al. | 1994
- 2270
-
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