Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 7

Results: 50

CORRIGENDUM.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1214

By:

Hassett, C.;
Aicher, L.;
Sidhu, J. S.;
Omiecinski, C. J.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 7, p. 1213
Publication type:: Article

Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1212

By:

Weston, M.D.;
Kimberling, W.J.

Publication type:

Article

Dinucleotide repeat polymorphism at D1S556.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1211

By:

Weston, M.D.;
Zhen, D.-K.;
Sumegi, J.;
Kimberling, W.J.

Publication type:

Article

Dinucleotide repeat polymorphism in the TGFB2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1211

By:

Weston, M.D.;
Zhen, D.-K.;
Sumegi, J.;
Kimberling, W.J.

Publication type:

Article

Polymorphism in exon M7 of the PTHR gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1210

By:

Schipani, E.;
Hustmyer, F.G.;
Bergwitz, C.;
Jūppner, H.

Publication type:

Article

Dinucleotide repeat polymorphism at the D6S510 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1210

By:

Gandon, G.;
Lelaure, V.;
Pichon, L.;
Jouanolle, A.M.;
Gall, J.Y.Le;
David, V.

Publication type:

Article

A trinucleotide repeat polymorphism in XT00444 (D13S635E).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1209

By:

Yandava, C.N.;
Meyers, V.;
Watkins, H.;
Duyk, G.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S639 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1209

By:

Nelson, L.;
Lu, J.;
Petterson, M.;
Fillmore, K.;
Riley, R.;
Ward, K.

Publication type:

Article

Xhol and Sphl RFLPs in the GALNS gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1208

By:

Tomatsu, S.;
Fukuda, S.;
Iwata, H.;
Ogawa, T.;
Sukegawa, K.;
Orii, T.

Publication type:

Article

Polymorphism in the GALNS gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1208

By:

Tomatsu, S.;
Fukuda, S.;
Iwata, H.;
Ogawa, T.;
Sukegawa, K.;
Orii, T.

Publication type:

Article

Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1207

By:

Carison, K.M.;
Dou, S.;
Toshima, K.;
Chi, D.D.;
Donis-Keller, H.

Publication type:

Article

Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1205

By:

Soria, José Manuel;
Fontcuberta, Jordi;
Borrell, Montserrat;
Estivill, Xavuer;
Sala, Núria

Publication type:

Article

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1203

By:

Fuchs, S.;
Kranich, H.;
Denton, M.J.;
Zrenner, E.;
Bhattacharya, S.S.;
Humphries, P.;
Gal, A.

Publication type:

Article

An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1201

By:

F.Schorderet, Daniel;
Pescia, Graziano;
Bernasconi, Andrea;
Regli, Franco

Publication type:

Article

Identification of the L927P and ΔL1260 mutations in the CFTR gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1199

By:

Hermans, Caroline J.;
Veeze, Henk J.;
Drexhage, Valentijn R.;
Halley, Dicky J.J.;
den Ouweland, Ans M.W.van

Publication type:

Article

Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1195

By:

Nakazawa, Mitsuru;
Kikawa, Emi;
Chida, Yasushi;
Tamai, Makoto

Publication type:

Article

Maternal anticipation of DRPLA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1197

By:

Aoki, Masashi;
Abe, Koji;
Kameya, Takeshi;
Watanabe, Mitsunori;
Itoyama, Yasuto

Publication type:

Article

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1193

By:

Naito, Etsuo;
Ito, Michinori;
Yokota, Ichiro;
Matsuda, Junko;
Yara, Asao;
Kuroda, YasuhIro

Publication type:

Article

A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1191

By:

Kishida, Takeshi;
Yao, Masahiro;
Chen, Fan;
Orcutt, Mary Lou;
Lerman, Michael I.;
Zbar, Berton

Publication type:

Article

A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1187

By:

Tajima, Toshihiro;
Nakae, Jun;
Shinohara, Nozomi;
Fujieda, Kenji

Publication type:

Article

Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1185

By:

Blanquet, Véronique;
Gross, Marie Sylvie;
Turieau, Catherine;
Sénamaud-Beaufort, Catherine;
Doz, Francols;
Besmond, Claude

Publication type:

Article

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1183

By:

Uchiyama, Atsushi;
Tomatsu, Shunji;
Kondo, Naomi;
Suzuki, Yasuyuki;
Shlmozawa, Nobuyukl;
Fukuda, Seijl;
Sukegawa, Kazuko;
Taki, Norio;
Inamorl, Hldeki;
Orii, Tadao

Publication type:

Article

Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1179

By:

Ainsworth, Peter;
Rodenhiser, David;
Stuart, Alan;
Jung, Jack

Publication type:

Article

Topologically equivalent mutations causing dysfunctional coagulation factors VII (Ala→Val) and X (Ser→ Pro).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1175

By:

Bernardi, F.;
Castaman, G.;
Redaelll, R.;
Pinotti, M.;
Lunghl, B.;
Rodeghlero, F.;
Marchetti, G.

Publication type:

Article

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1173

By:

W.Prior, Thomas;
Bartolo, Claire;
Papp, Audrey C.;
Snyder, Pamela J.;
Sedra, Mary S.;
Burghes, Arthur H.M.;
Mendell, Jerry R.

Publication type:

Article

A novel mutation of Leu to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1171

By:

Yamanishi, Kiyofumi;
Matsukl, Masato;
Konishi, Kelsuke;
Yasuno, Hirokazu

Publication type:

Article

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 receptor.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1169

By:

Baldazzl, L.;
Baronclnl, C.;
PIrazzoll, P.;
Balsamo, A.;
Capelll, M.;
Marchettl, G.;
Bernardl, F.;
Cacclarl, E.

Publication type:

Article

Identification of a novel germline mutation in a FAP family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1167

By:

Gebert, Johannes F.;
Hahn, Matthias;
Kadmon, Martina;
Herfarth, Christian;
Schackert, Hans K.

Publication type:

Article

Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1163

By:

Hiort, Olaf;
Wodtke, Andrea;
Struve, Dagmar;
Zöllner, Anke;
Sinnecker, Gernot H.G.

Publication type:

Article

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1155

By:

Wapenaar, Martin C.;
Schiaffino, M.Vittoria;
Bassi, Maria T.;
Schaefer, Laura;
Chinault, A.Craig;
Zoghbi, Huda Y.;
Ballabio, Andrea

Publication type:

Article

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1151

By:

Huber, 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.;
Cremers, Frans P.M.;
Ropers, Hans-Hilger

Publication type:

Article

Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1147

By:

Ikeda, Shigaku;
Welsh, Elizabeth A.;
Peluso, Anna M.;
Leyden, Wendy;
Duvic, Madeleine;
Woodley, David T.;
Epstein, Ervin H.

Publication type:

Article

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1141

By:

Hull, Jeremy;
Shackleton, Sue;
Harris, Ann

Publication type:

Article

A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1133

By:

Lafrenière, Ronald G.;
Carrel, Laura;
Willard, Huntington F.

Publication type:

Article

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1129

By:

Novelletto, Andrea;
Persichetti, Francesca;
Sabbadini, Guglielmo;
Mandich, Paola;
Bellone, Emilia;
Ajmar, Franco;
Squitieri, F.;
Campanella, G.;
Bozza, Angela;
MacDonald, Marcy E.;
Gusella, James F.;
Frontali, Marina

Publication type:

Article

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1123

By:

Heine, Ronald;
George, Alfred L.;
Pika, Ursula;
Deymeer, Feza;
Rüdel, Reinhardt;
Lehmann-Horn, Frank

Publication type:

Article

Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1117

By:

Pedone, Paolo V.;
Tirabosco, Roberto;
Cavazzana, Andrea O.;
Ungaro, Paola;
Basso, Giuseppe;
Luksch, Roberto;
Carli, Modesto;
Bruni, Carmelo B.;
Frunzio, Rodolfo;
Riccio, Andrea

Publication type:

Article

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1109

By:

Purandare, Smita M.;
Lanyon, W. George;
Connor, J. Michael

Publication type:

Article

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1103

By:

Franchis, Raffaella de;
Kožich, Viktor;
Mcinnes, Roderick R.;
Kraus, Jan P.

Publication type:

Article

Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1095

By:

Mazzarella, Richard;
Srivastava, Anand K.

Publication type:

Article

Analysis of the mouse and rat CFTR promoter regions.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1089

By:

Denamur, Erick;
Chehab, Farid F.

Publication type:

Article

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).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1081

By:

Huie, M. L.;
Chen, A. S.;
Brooks, S.Sklower;
Grix, A.;
Hlrschhorn, R.

Publication type:

Article

Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1075

By:

Huynh, Duong P.;
Nechiporuk, Tamilla;
Pulst, Stefan-M.

Publication type:

Article

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1069

By:

Tassabehjl, M.;
Newton, V. E.;
Leverton, K.;
Turnbull, K.;
Seemanova, E.;
Kunze, J.;
Sperling, K.;
Strachan, T.;
Read, A. P.

Publication type:

Article

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1061

By:

Tribioli, C.;
Mancini, M.;
Plassart, E.;
Bione, S.;
Rivella, S.;
Sala, C.;
Torri, G.;
Tonlolo, D.

Publication type:

Article

Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1053

By:

Rack, 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.;
Monaco, A. P.;
Buckle, V. J.

Publication type:

Article

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1047

By:

Bokhoven, 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;
Wright, Alan;
Ropers, Hans-Hilger;
Rosenberg, Thomas;
Cremers, Frans P. M.

Publication type:

Article

Cloning and characterization of the human choroideremia gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1041

By:

Bokhoven, 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.

Publication type:

Article

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1035

By:

Rosslter, 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;
Sommer, Steve S.;
Kazazian, Haig H.;
Antonarakis, Styllanos E.

Publication type:

Article