Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 1

Results: 61

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 79

By:

Bradley, Linda A. D.;
Sweatman, Angela K.;
Lovering, Ruth C.;
Jones, Alison M.;
Morgan, Gareth;
Levinsky, Roland J.;
Kinnon, Christine

Publication type:

Article

Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34–35.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 99

By:

Lu-Kuo, Jennifer M.;
Pasller, Denis Le;
Welssenbach, Jean;
Chumakov, llya;
Cohen, Danlel;
Ward, David C.

Publication type:

Article

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 93

By:

Novelletto, Andrea;
Persichetti, Francesca;
Sabbadin, Guglielmo;
Mandich, Paola;
Bellone, Emilia;
Ajmar, Franco;
Pergola, Mariano;
Senno, Laura Del;
E.MacDonald, Marcy;
F.Gusella, James;
Frontall, Marina

Publication type:

Article

COMMENTARY: Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 9

By:

Nicholls, Robert D.

Publication type:

Article

Sequence of the murine Huntington dusease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 85

By:

Lin, Biaoyand;
Nasir, Jamal;
MacDonald, Helen;
Hutchinson, Gordon;
Graham, Rona K.;
Rommesns, Johanna M.;
Hayden, Michael R.

Publication type:

Article

Distribution of trinucleotide repeat sequences across a Mbp region containing the Huntington's disease gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 73

By:

Hummerich, Holger;
Baxendale, Sarah;
Mott, Richard;
F.Kirby, Susan;
E.MacDonald, Marcy;
Gusella, James;
Lehrach, Hans;
P.Bates, Gillian

Publication type:

Article

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 69

By:

St-Louis, Maryse;
Leclerc, Barbara;
Laine, Jarmo;
K.Salo, Matti;
Holmberg, Chrlster;
Tanguay, Robert M.

Publication type:

Article

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 65

By:

Andrew, Susan E.;
Goldberg, Y. Paul;
Theilmann, Jane;
Zeisler, Jutta;
Hayden, Michael R.

Publication type:

Article

Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 61

By:

Heng, Henry H. Q.;
Xiao, Hua;
Shi, Xiao-Mei;
Greenblatt, Jack;
Tsui, Lap-Chee

Publication type:

Article

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 57

By:

Savov, A.;
Mercler, B.;
Kalaydjieva, L.;
C.FérecC.Férec

Publication type:

Article

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 53

By:

Gayther, Simon A.;
Wells, Dagan;
SenGupta, Sioban B.;
Chapman, Pamela;
Neale, Kay;
Tsioupra, Katia;
A.Delhanty, Joy D.

Publication type:

Article

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 45

By:

E.Neville, Catherine;
S.Mahadeva, Manl;
M.Barceló, Juana;
Korneluk, Robert

Publication type:

Article

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 39

By:

Gecz, J.;
Pollaord, H.;
Consalez, G.;
Villard, L.;
Stayton, C.;
Millasseau, P.;
Khrestchatisky, M.;
Fontes, M.

Publication type:

Article

The gene for Darier's disease maps between D12S78 and D12S79.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 35

By:

Parfitt, E.;
Burge, S.;
Craddock, N.;
Roberts, E.;
McLean, W.H.I.;
Weissenbach, J.;
McGuffln, P.;
Owen, M.

Publication type:

Article

Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 29

By:

Fairweather, Nicholas;
Bell, Christine;
Cochrane, Susan;
Chelly, Jamel;
Wang, Suping;
L.Mostacciuolo, Marie;
P.Monaco, Anthony;
E.Haites, Neva

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 1, p. 221
Publication type:: Article

Dinucleotide repeat polymorphism for HLX1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 219

By:

Sander, A.;
Kennedy, M.A.;
Rayner, J.C.;
Murray, J.C.

Publication type:

Article

Two microsatellite repeat polymorphisms in the EPO gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 219

By:

Sokol, Lubomir;
T.Prchal, Josef

Publication type:

Article

Taqlpolymorphism of the human tissue inhibitor of metallo-proteinases-2 (Timp2) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 218

By:

Jares, Pedro;
L.Fernandez, Pedro;
Blay, Maite;
Aiza, Gemma;
G.Stetler-Stevenson, William;
Cardesa, Antonio;
Campo, Elias

Publication type:

Article

A polymorphic dinucleotide repeat in the third intron of TAP1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 218

By:

Carrington, Mary;
Dean, Michael

Publication type:

Article

A common amino acid polymorphism in complement component C1R.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 217

By:

Nöthen, Markus M.;
Dewald, Georg

Publication type:

Article

A dinucleotide repeat in the third intron of CD36.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 217

By:

Lipsky, Robert H.;
Ikeda, Hisami;
Medved, Elena S.

Publication type:

Article

Dinucleotide repeat polymorphism in the human RFX1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 216

By:

Kern, Ilse;
Ucia, Catherine;
Mach, Bernard

Publication type:

Article

Dinucleotide repeat polymorphism at D16S533.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 216

By:

Cleton-Jansen, A.M.;
Moerland, H.W.;
Vossen, R.H.A.M.;
Callen, D.F.;
Breuning, M.H.;
Devilee, P.

Publication type:

Article

Tetranucleotide length polymorphism 5' of the α2-macroglobulin receptor (A2MR)/LDL receptor-related protein (LRP) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 215

By:

Zuliani, Giovanni;
Hobbs, Helen H.

Publication type:

Article

Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 215

By:

Roche, Joëlle;
Whisenant, Ethan;
Boldog, Ferenc;
Loeb, Deborah;
Vance, Jeffery M.;
Drabkin, Harry

Publication type:

Article

Dinucleotide repeat polymorphism within ERCC5 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 214

By:

Samec, S.;
CIarkson, S.G.;
BIaschak, J.;
Chakravarti, A.;
Morris, M.A.;
Scherly, D.;
Antonarakis, S.E.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S346 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 214

By:

Riley, Robyn;
Nelson, Lesa;
Lu, Jun;
Robertson, Margaret;
Ward, Kenneth

Publication type:

Article

Mnll polymorphism for the AGTR1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 213

By:

Rolfs, A.;
Kallisch, H.;
Weber, I.;
Regitz-Zagrosek, V.;
Fleck, E.

Publication type:

Article

A dinucleotide repeat polymorphism in the FCERIB gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 213

By:

Danies, S.E.;
Shirakawa, T.

Publication type:

Article

A dinucleotide repeat polymorphism in the FCERIB gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 212

By:

Daniels, S.E.;
Shirakawa, T.

Publication type:

Article

Dinucleotide repeat polymorphism at the FGFR1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 212

By:

Yu, Chang-En;
Anderson, Leojean;
Oshima, Junko;
Schellenberg, Gerard D.

Publication type:

Article

Simple repeat polymorphism at the D9S151 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 211

By:

Berkman, Jenny;
Armour, John A.L.;
Chenevix-Trench, Georgia;
Wicking, Carol;
Wainwright, Brandon

Publication type:

Article

Dinucleotide repeat polumorphisms at the D16S525, D16S359. D16S531 and D16S522 loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 210

By:

Shen, Y.;
Holman, K.;
Doggett, N.A.;
Callen, D.F.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

Complete androgen insensitivity due to mutations in the probable α-helical segments of the DNA-binding domain in the human androgen receptor.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 21

By:

Beitel, Lenore K.;
Prior, Lynn;
Vaslliou, D. Marle;
Gottlleb, Bruce;
Kaufman, Morris;
Lumbroso, Rose;
Alvarado, Carlos;
McGillivray, Barbara;
Triflro, Mark;
Pinsky, Leonard

Publication type:

Article

Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 209

By:

Cichon, Sven;
Nöthen, Markus M.;
Erdmann, Jeanette;
Propping, Peter

Publication type:

Article

Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 207

By:

Harvey, John S.;
Carey, William F.;
Nelson, Paul V.;
Morris, C. Phillip

Publication type:

Article

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 205

By:

Al-Maghtheh, M.;
Kim, R.Y.;
Hardcastle, A.;
Inglehearn, C.;
Bhattacharya, S.S.

Publication type:

Article

Identification of a novel mutation (Leu 256— Pro) in the human aldolase B gene associated with hereditary tructose Intolerance.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 203

By:

Sebastlo, M. All, G.;
M.Cox, T.

Publication type:

Article

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 201

By:

Renieri, Alessandra;
Galli, Lucia;
De Marchl, Mario;
Mollica, Florindo;
Lupo, Antonio;
Maschio, Giuseppe;
Peissel, Bernard;
Rossetti, Sandro;
Pignatti, Pierfranco;
E.Turco, Alberto

Publication type:

Article

Molecular genetics of the persistent Müllerian duct syndrome: a study of 19 families.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 125

By:

Imbeaud, Sandrine;
Carré-Eusèbe, Danlèle;
Rey, Rodolfo;
Belville, Corinne;
Josso, Nathalie;
Picard, Jean-Yves

Publication type:

Article

Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch—Nyhan syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 199

By:

C.Fuscoe, James;
Nelsen, Anita Jeffers

Publication type:

Article

A missense mutation (His–Arg) and a silent (Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 195

By:

Reig, Carlos;
Liecha, Nuria;
Antich, Jaume;
Gean, Esther;
Tejada, Isabel;
Molina, Manuel;
Reventós, Jaume;
Carballo, Miguel

Publication type:

Article

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 193

By:

Meiner, Vardiella;
Marais, David A.;
Reshef, Ayeleth;
Björkhem, Ingemar;
Leltersdorf, Eran

Publication type:

Article

Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 191

By:

P.Ketterling, Rhett;
S.Sommer, Steve

Publication type:

Article

A survey of long-range DNA polymorphisms on the human Y chromosome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 107

By:

Jobling, Mark A.

Publication type:

Article

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 197

By:

Butt, Jennifer;
Greenberg, Jacquie;
Winship, Ingrid;
Sellars, Sean;
Beighton, Peter;
Ramesar, Rajkumar

Publication type:

Article

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 181

By:

Mandl, Marion;
Paffenholz, Rainer;
Friedl, Waltraut;
Caspari, Reiner;
Sengteller, Marlles;
Propping, Peter

Publication type:

Article

A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 173

By:

Barron, Lllias H.;
Rae, Alison;
Holloway, Susan;
H.Brock, David J.;
Warner, Jon P.

Publication type:

Article

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 167

By:

Wu, Yuan-Qing;
Heutink, Peter;
de Vries, Bert B. A.;
Sandkuijl, Lodewijk A.;
van den Ouweland, Ans M. W.;
Niermeijer, Martinus F.;
Galjaard, Hans;
Reyniers, Edwin;
Willems, Patrick J.;
J. J.Halley, Dicky

Publication type:

Article