Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia (English)
- New search for: Rack, K. A.
- New search for: Chelly, J.
- New search for: Gibbons, R. J.
- New search for: Rider, S.
- New search for: Benjamin, D.
- New search for: Lafrenlère, R. G.
- New search for: Oscier, D.
- New search for: Hendriks, R. W.
- New search for: Craig, I. W.
- New search for: Willard, H. F.
- New search for: Monaco, A. P.
- New search for: Buckle, V. J.
- New search for: Rack, K. A.
- New search for: Chelly, J.
- New search for: Gibbons, R. J.
- New search for: Rider, S.
- New search for: Benjamin, D.
- New search for: Lafrenlère, R. G.
- New search for: Oscier, D.
- New search for: Hendriks, R. W.
- New search for: Craig, I. W.
- New search for: Willard, H. F.
- New search for: Monaco, A. P.
- New search for: Buckle, V. J.
In:
Human molecular genetics
;
3
, 7
;
1053-
;
1994
- Article (Journal) / Electronic Resource
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Title:Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia
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Contributors:Rack, K. A. ( author ) / Chelly, J. ( author ) / Gibbons, R. J. ( author ) / Rider, S. ( author ) / Benjamin, D. ( author ) / Lafrenlère, R. G. ( author ) / Oscier, D. ( author ) / Hendriks, R. W. ( author ) / Craig, I. W. ( author ) / Willard, H. F. ( author )
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Published in:Human molecular genetics ; 3, 7 ; 1053-
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Publisher:
- New search for: Oxford University Press
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Publication date:1994-07-01
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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 7
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.
- 1035
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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cellsRosslter, Judith Pratt / Young, Michele / Kimberland, Michelle L. / Hutter, Pierre / Ketterling, Rhett P. / Gitschier, Jane / Horst, Jürgen / Morris, Michael A. / Schaid, Daniel J. / de Moerloose, Phillppe et al. | 1994
- 1041
-
Cloning and characterization of the human choroideremia geneBokhoven, Hans van / Hurk, José A. J. M. van den / Bogerd, Liesbeth / Philippe, Christophe / Gilgenkrantz, Simone / Jong, Pieter de / Ropers, Hans-Hilger / Cremers, Frans P. M. et al. | 1994
- 1047
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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patientsBokhoven, Hans van / Schwartz, Marianne / Andréasson, Sten / Hurk, José A. J. M. van den / Bogerd, Liesbeth / Jay, Marcelle / Rüther, Klaus / Jay, B. / Pawlowitzki, Ivar H. / Sankila, Eeva-Marja et al. | 1994
- 1053
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Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemiaRack, K. A. / Chelly, J. / Gibbons, R. J. / Rider, S. / Benjamin, D. / Lafrenlère, R. G. / Oscier, D. / Hendriks, R. W. / Craig, I. W. / Willard, H. F. et al. | 1994
- 1061
-
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiaeTribioli, C. / Mancini, M. / Plassart, E. / Bione, S. / Rivella, S. / Sala, C. / Torri, G. / Tonlolo, D. et al. | 1994
- 1069
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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouseTassabehjl, M. / Newton, V. E. / Leverton, K. / Turnbull, K. / Seemanova, E. / Kunze, J. / Sperling, K. / Strachan, T. / Read, A. P. et al. | 1994
- 1075
-
Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domainsHuynh, Duong P. / Nechiporuk, Tamilla / Pulst, Stefan-M. et al. | 1994
- 1081
-
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. / Chen, A. S. / Brooks, S.Sklower / Grix, A. / Hlrschhorn, R. et al. | 1994
- 1089
-
Analysis of the mouse and rat CFTR promoter regionsDenamur, Erick / Chehab, Farid F. et al. | 1994
- 1095
-
Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosomeMazzarella, Richard / Srivastava, Anand K. et al. | 1994
- 1103
-
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine {beta}-synthase using an improved bacterial expression systemFranchis, Raffaella de / Kozich, Viktor / Mcinnes, Roderick R. / Kraus, Jan P. et al. | 1994
- 1109
-
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1Purandare, Smita M. / Lanyon, W. George / Connor, J. Michael et al. | 1994
- 1117
-
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumorsPedone, Paolo V. / Tirabosco, Roberto / Cavazzana, Andrea O. / Ungaro, Paola / Basso, Giuseppe / Luksch, Roberto / Carli, Modesto / Bruni, Carmelo B. / Frunzio, Rodolfo / Riccio, Andrea et al. | 1994
- 1123
-
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletionHeine, Ronald / George, Alfred L. / Pika, Ursula / Deymeer, Feza / Rüdel, Reinhardt / Lehmann-Horn, Frank et al. | 1994
- 1129
-
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington diseaseNovelletto, Andrea / Persichetti, Francesca / Sabbadini, Guglielmo / Mandich, Paola / Bellone, Emilia / Ajmar, Franco / Squitieri, F. / Campanella, G. / Bozza, Angela / MacDonald, Marcy E. et al. | 1994
- 1133
-
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2Lafrenière, Ronald G. / Carrel, Laura / Willard, Huntington F. et al. | 1994
- 1141
-
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cellsHull, Jeremy / Shackleton, Sue / Harris, Ann et al. | 1994
- 1147
-
Localization of the gene whose mutations underlie Hailey--Hailey disease to chromosome 3qIkeda, Shigaku / Welsh, Elizabeth A. / Peluso, Anna M. / Leyden, Wendy / Duvic, Madeleine / Woodley, David T. / Epstein, Ervin H. et al. | 1994
- 1151
-
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsHuber, Irene / Bitner-Gllndzicz, Maria / de Kok, Yvette J.M. / van der Maarel, Silvère M. / Ishikawa-Brush, Yumiko / Monaco, Anthony P. / Robinson, David / Malcolm, Susan / Pembrey, Marcus E. / Brunner, Han G. et al. | 1994
- 1155
-
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22Wapenaar, Martin C. / Schiaffino, M.Vittoria / Bassi, Maria T. / Schaefer, Laura / Chinault, A.Craig / Zoghbi, Huda Y. / Ballabio, Andrea et al. | 1994
- 1163
-
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysisHiort, Olaf / Wodtke, Andrea / Struve, Dagmar / Zöllner, Anke / Sinnecker, Gernot H.G. / the German Collaborative Intersex Study Group, et al. | 1994
- 1167
-
Identification of a novel germline mutation in a FAP familyGebert, Johannes F. / Hahn, Matthias / Kadmon, Martina / Herfarth, Christian / Schackert, Hans K. et al. | 1994
- 1169
-
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 receptorBaldazzl, L. / Baronclnl, C. / PIrazzoll, P. / Balsamo, A. / Capelll, M. / Marchettl, G. / Bernardl, F. / Cacclarl, E. et al. | 1994
- 1171
-
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplexYamanishi, Kiyofumi / Matsukl, Masato / Konishi, Kelsuke / Yasuno, Hirokazu et al. | 1994
- 1173
-
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16W.Prior, Thomas / Bartolo, Claire / Papp, Audrey C. / Snyder, Pamela J. / Sedra, Mary S. / Burghes, Arthur H.M. / Mendell, Jerry R. et al. | 1994
- 1175
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Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala->Val) and X (334Ser-> Pro)Bernardi, F. / Castaman, G. / Redaelll, R. / Pinotti, M. / Lunghl, B. / Rodeghlero, F. / Marchetti, G. et al. | 1994
- 1179
-
Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) geneAinsworth, Peter / Rodenhiser, David / Stuart, Alan / Jung, Jack et al. | 1994
- 1183
-
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444PUchiyama, Atsushi / Tomatsu, Shunji / Kondo, Naomi / Suzuki, Yasuyuki / Shlmozawa, Nobuyukl / Fukuda, Seijl / Sukegawa, Kazuko / Taki, Norio / Inamorl, Hldeki / Orii, Tadao et al. | 1994
- 1185
-
Three novel germline mutations in exons 8 and 18 of the retinoblastoma geneBlanquet, Véronique / Gross, Marie Sylvie / Turieau, Catherine / Sénamaud-Beaufort, Catherine / Doz, Francols / Besmond, Claude et al. | 1994
- 1187
-
A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46, XY gonadal dysgenesisTajima, Toshihiro / Nakae, Jun / Shinohara, Nozomi / Fujieda, Kenji et al. | 1994
- 1191
-
A novel donor splice site mutation associated with two mRNAs in von Hippel -- Lindau diseaseKishida, Takeshi / Yao, Masahiro / Chen, Fan / Orcutt, Mary Lou / Lerman, Michael I. / Zbar, Berton et al. | 1994
- 1193
-
Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, {alpha} subunit geneNaito, Etsuo / Ito, Michinori / Yokota, Ichiro / Matsuda, Junko / Yara, Asao / Kuroda, YasuhIro et al. | 1994
- 1195
-
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degenerationNakazawa, Mitsuru / Kikawa, Emi / Chida, Yasushi / Tamai, Makoto et al. | 1994
- 1197
-
Maternal anticipation of DRPLAAoki, Masashi / Abe, Koji / Kameya, Takeshi / Watanabe, Mitsunori / Itoyama, Yasuto et al. | 1994
- 1199
-
Identification of the L927P and {Delta}L1260 mutations in the CFTR geneHermans, Caroline J. / Veeze, Henk J. / Drexhage, Valentijn R. / Halley, Dicky J.J. / den Ouweland, Ans M.W.van et al. | 1994
- 1201
-
An additional family with Startle disease and a G1192A mutation at the {alpha}1 subunit of the inhibitory glycine receptor geneF.Schorderet, Daniel / Pescia, Graziano / Bernasconi, Andrea / Regli, Franco et al. | 1994
- 1203
-
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosaFuchs, S. / Kranich, H. / Denton, M.J. / Zrenner, E. / Bhattacharya, S.S. / Humphries, P. / Gal, A. et al. | 1994
- 1205
-
Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiencySoria, José Manuel / Fontcuberta, Jordi / Borrell, Montserrat / Estivill, Xavuer / Sala, Núria et al. | 1994
- 1207
-
Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100Carison, K.M. / Dou, S. / Toshima, K. / Chi, D.D. / Donis-Keller, H. et al. | 1994
- 1208
-
Polymorphism in the GALNS geneTomatsu, S. / Fukuda, S. / Iwata, H. / Ogawa, T. / Sukegawa, K. / Orii, T. et al. | 1994
- 1208-a
-
Xhol and Sphl RFLPs in the GALNS geneTomatsu, S. / Fukuda, S. / Iwata, H. / Ogawa, T. / Sukegawa, K. / Orii, T. et al. | 1994
- 1208b
-
XhoI and SphI RFLPs in the GALNS geneTomatsu, S / Fukuda, S / Iwata, H / Ogawa, T / Sukegawa, K / Orii, T et al. | 1994
- 1209
-
Tetranucleotide repeat polymorphism at the D8S639 locusNelson, L. / Lu, J. / Petterson, M. / Fillmore, K. / Riley, R. / Ward, K. et al. | 1994
- 1209a
-
A trinucleotide repeat polymorphism in XT00444 (D13S635E)Yandava, CN / Meyers, V / Watkins, H / Duyk, G et al. | 1994
- 1210
-
Dinucleotide repeat polymorphism at the D6S510 locusGandon, G. / Lelaure, V. / Pichon, L. / Jouanolle, A.M. / Gall, J.Y.Le / David, V. et al. | 1994
- 1210-a
-
Polymorphism in exon M7 of the PTHR geneSchipani, E. / Hustmyer, F.G. / Bergwitz, C. / Juppner, H. et al. | 1994
- 1211
-
Dinucleotide repeat polymorphism in the TGFB2 geneWeston, M.D. / Zhen, D.-K. / Sumegi, J. / Kimberling, W.J. et al. | 1994
- 1211a
-
Dinucleotide repeat polymorphism at D1S556Weston, MD / Zhen, DK / Sumegi, J / Kimberling, WJ et al. | 1994
- 1212
-
Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41Weston, M.D. / Kimberling, W.J. et al. | 1994
- 1213
-
Author index| 1994
- 1214
-
CORRIGENDUM: Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variantsHassett, C. / Aicher, L. / Sidhu, J. S. / Omiecinski, C. J. et al. | 1994