Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 8

Results: 60

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1347

By:

Winnard, A.V.;
Klein, C.J.;
Coovert, D.D.;
Prior, T.;
Papp, A.;
Snyder, P.;
Bulman, D.E.;
Ray, P.N.;
McAndrew, P.;
King, W.;
Moxley, R.T.;
Mendell, J.R.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 8, p. 1345
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 8, p. 1335
Publication type:: Article

A triplet repeat polymorphism in a gene expressed in human hypothalamus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1332

By:

Phillips, K.L.;
Gartrell, D.M.;
Roses, A.D.;
Lee, J.E.

Publication type:

Article

SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1333

By:

Drews, R.T.;
Lagacé, G.;
Gravel, R.A.;
Collu, R.

Publication type:

Article

Alternative splicing in the fragile X gene FMR1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1348

By:

Verkerk, A.J.M.H.;
de Graaff, E.;
De Boulle, K.;
Eichler, E.E.;
Konecki, D.S.;
Reyniers, E.;
Manca, A.;
Poustka, A.;
Willems, P.J.;
Nelson, D.L.;
Oostra, B.A.

Publication type:

Article

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1347

By:

Nichols, B.E.;
Drack, A.V.;
Vandenburgh, K.;
Kimura, A.E.;
Sheffield, V.C.;
Stone, E.M.

Publication type:

Article

Dinucleotide repeat polymorphism at the D11S995 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1332

By:

Browne, D.L.;
Heyningen, V.van;
Bickmore, W.;
Litt, M.

Publication type:

Article

A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1331

By:

Pillo, Biagio La;
Lüdecke, Hermann-Josef;
Thiesen, Hans-Jürgen;
Horsthemke, Bernhard

Publication type:

Article

Bg/ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1331

By:

Virtaneva, Kimmo I.;
Nevanlinna, Heli;
Schroder, Jim

Publication type:

Article

Dinucleotide repeat polymorphism at the D10S469 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1330

By:

Decker, Ruth A.;
Collins, Francis S.

Publication type:

Article

Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1330

By:

Hustmye, Frank G.;
Schipani, Ernestina;
Peacock, Munro

Publication type:

Article

Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1325

By:

Talbot, C. Conover;
Warren, Andrew C.;
Avramopoulos, Dimitris;
Antonarakis, Stylianos E.

Publication type:

Article

A new VNTR polymorphism at locus D1S340.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1329

By:

Honma, Masamitsu;
Mitani, Khonosuke;
Mizusawa, Hiroshi;
Hayashi, Makoto;
Sofuni, Toshio;
Muramatsu, Masami;
Komonami, Ryo

Publication type:

Article

A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1328

By:

Goulielmos, G.;
Angelicheva, D.;
Kapsetaki, M.;
Manifava, M.;
Moschonas, N.K.

Publication type:

Article

Trinucleotide repeat polymorphism at the D5S556 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1328

By:

Burlet, Philippe;
Abdelhak, Sonia;
Pascal, Fabrice;
Clermont, Olivier;
Paul, Barbara;
Munnich, Arnold;
Melki, Judith

Publication type:

Article

Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1327

By:

Li, Hua;
Schmidt, Laura;
Wei, Ming-Hui;
Hustad, Thomas;
Lerman, Michael I.;
Zbar, Berton;
Tory, Kalman

Publication type:

Article

Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1326

By:

Li, Hua;
Schmidt, Laura;
Duh, Fuh-Mei C.;
Wei, Ming-Hui;
Latif, Farida;
Stackhouse, Thomas;
Lerman, Michael I.;
Zbar, Berton;
Tory, Kalman

Publication type:

Article

Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1329

By:

Byerley, William;
Khan, Akbar S.;
Holik, John;
Hoff, Mark;
Sikela, James M.

Publication type:

Article

Three Mspl polymorphisms at the UGT1 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1324

By:

Moghrabi, Nabil;
Boxer, Maureen;
Burchell, Brian

Publication type:

Article

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1323

By:

Biddinger, A.L.;
Hecht, J.T.;
Milewicz, D.M.

Publication type:

Article

Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1319

By:

Sztrolovics, R.;
Glorieux, F.H.;
van der Rest, M.;
Roughley, P.J.

Publication type:

Article

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1317

By:

Chillón, Miguel;
Casals, Teresa;
Nunes, Virginia;
Giménez, Javier;
Estivill, Xavier

Publication type:

Article

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1315

By:

Llewellyn, D.H.;
Whatley, S.;
Elder, G.H.

Publication type:

Article

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1295

By:

Ravia, Yehoshua;
Braier-Goldstein, Orly;
Bat-Miriam, Katznelson Mariassa;
Erlich, Shai;
Barkai, Gad;
Goldman, Boleslaw

Publication type:

Article

Severe splice site mutation preceding exon 9 of the CFTR gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1313

By:

Dörk, Thilo;
Fislage, Rainer;
Rappen, Ulrich;
Tümmler, Burkhard

Publication type:

Article

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1291

By:

Bartram, Clare;
Edwards, Richard H.T.;
Clague, John;
Beynon, Robert J.

Publication type:

Article

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1289

By:

Pérez, Belén;
Desviat, Lourdes R.;
Die, Mar;
Cornejo, Verónica;
Chamoles, Nestor A.;
Nicolini, Humberto;
Ugarte, Magdalena

Publication type:

Article

The high frequency of TTR M in familial amyloidotic polyneuropathy is not due to a founder effect.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1303

By:

lI, Setsuko;
Sommer, Steve S.

Publication type:

Article

High frequency gene targeting using insertional vectors.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1299

By:

Dickinson, Paul;
Kimber, Wendy L.;
Kilanowski, Fiona M.;
Stevenson, Barbara J.;
Porteous, David J.;
Dorin, Julia R.

Publication type:

Article

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1311

By:

Clarke, Lorne A.;
Scott, Hamish S.

Publication type:

Article

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1309

By:

Vielhaber, Erica;
Jacobson, David P.;
Ketterling, Rhett P.;
Liu, Jing-Zhong;
Sommer, Steve S.

Publication type:

Article

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1307

By:

Atasoy, Ulus;
Norby-Slycord, Colette J.;
Markert, M.Louise

Publication type:

Article

Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1235

By:

Chevillard, Christophe;
Paslier, Denis Le;
Passage, Edith;
Ougen, Pierre;
Billault, Alain;
Boyer, Sylvie;
Mazan, Sylvie;
Bachellerie, Jean Pierre;
Vignal, Alain;
Cohen, Daniel;
Fontes, Michel

Publication type:

Article

The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1267

By:

Cooper, Katrina F.;
Fisher, Richard B.;
Tyler-Smith, Chris

Publication type:

Article

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1263

By:

Hofmann-Radvanyi, Hélène;
Lavedan, Christian;
Rabès, Jean-Pierre;
Savoy, Daniel;
Duros, Chantal;
Johnson, Keith;
Junien, Claudine

Publication type:

Article

Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1253

By:

Yang, Yiping;
Devor, Daniel C.;
Engelhardt, John F.;
Ernst, Stephen A.;
Strong, Theresa V.;
Collins, Francis S.;
Cohn, Jonathan A.;
Frizzell, Raymond A.;
Wilson, James M.

Publication type:

Article

Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1245

By:

Bućan, Maja;
Gatalica, Biljana;
Nolan, Patrick;
Chung, Alice;
Leroux, Alena;
Grossman, Mark H.;
Nadeau, Joseph H.;
Emanuel, Beverly S.;
Budarf, Marcia

Publication type:

Article

The development of sequence-tagged sites for human chromosome 4.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1271

By:

Goold, Richard D.;
diSibio, Guy L.;
Xu, Haidong;
Lang, David B.;
Dadgar, Jahan;
Magrane, Gregg G.;
Dugaiczyk, Achilles;
Smith, Kristen A.;
Cox, David W.;
Masters, Susan B.;
Myers, Richard M.

Publication type:

Article

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1229

By:

Lehesjokl, Anna-Ellna;
Koskiniemi, Marjaleena;
Norio, Reljo;
Tirrito, Salvatore;
Sistonen, Perttl;
Lander, Eric;
Chapelle, Albert de la

Publication type:

Article

No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1221

By:

Jansen, Gert;
Bartolomel, Marisa;
Kalscheuer, Vera;
Merkx, Gerard;
Wormskamp, Nicole;
Mariman, Edwin;
Smeets, Dominique;
Ropers, Hans-Hilger;
Wleringa, Bé

Publication type:

Article

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1215

By:

Sanson, Marc;
Marineau, Claude;
Desmaze, Chantale;
Lutchman, Mohini;
Ruttledge, Martin;
Baron, Chantal;
Narod, Steven;
Delattre, Olivier;
Lenoir, Gilbert;
Thomas, Gilles;
Aurlas, Alain;
Rouleau, Guy A.

Publication type:

Article

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1209

By:

Claustres, Mireille;
Laussel, Maguelone;
Desgeorges, Marie;
Giansily, Muriel;
Culard, Jean-Françols;
Razakatsara, Gaby;
Demaille, Jacques

Publication type:

Article

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1205

By:

Seo, Hee-Chan;
Willems, Patrick J.;
O'Brien, John S.

Publication type:

Article

A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1201

By:

Holtzman, Eliezer J.;
Kolakowskl, Lee F.;
O'Brien, David;
Crawford, John D.;
Ausiello, Dennis A.

Publication type:

Article

Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1193

By:

Simard, Jacques;
Feunteun, Jean;
Lenoir, Gilbert;
Tonin, Patricia;
Normand, Thlerry;
The, Van Luu;
Vivler, Anne;
Lasko, Dana;
Morgan, Kenneth;
Rouleau, Guy A.;
Lynch, Henry;
Labrie, Femand;
Narod, Steven A.

Publication type:

Article

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1161

By:

Francis, Michael J.;
Morrison, Karen E.;
Campbell, Louise;
Grewal, Prabhjit K.;
Christodoulou, Zóe;
Daniels, Rachael J.;
Monaco, Anthony P.;
Frischauf, Anne-Marie;
McPherson, John;
Wasmuth, John;
Davies, Kay E.

Publication type:

Article

Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1187

By:

Chong, Samuel S.;
Kristjansson, Kristlelfur;
Cota, Juan;
Handyslde, Alan H.;
Hughes, Mark R.

Publication type:

Article

The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1177

By:

Liu, Wanguo;
Plechockl, Marie;
Shridhar, Viji;
Lyles, Gregory;
Song, Zheng;
Nakamura, Yasuke;
Drabkin, Harry;
Vance, Jeffrey;
Smith, David I.

Publication type:

Article

High resolution physical map of the region surrounding the spinal muscular atrophy gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1169

By:

Thompson, Terrl G.;
Morrison, Karen E.;
Kleyn, Patrick;
Bengtsson, Ulla;
Gilliam, T.Conrad;
Davies, Kay E.;
Wasmuth, John J.;
McPherson, John D.

Publication type:

Article