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

Results: 36

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

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 530

By:

Lin, B.;
Nasir, J.;
MacDonald, H.;
Hutchinson, G.;
Graham, R.K.;
Rommens, J.M.;
Hayden, M.R.

Publication type:

Article

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 471

By:

Quane, Kathleen A.;
Keating, Katherine E.;
Manning, Bernadette M.;
Healy, J.M.Sandra;
Monsleurs, Koen;
Heffron, James J.A.;
Lehane, Mary;
Heytens, Luc;
Krivosic-Horber, Renee;
Adnet, Pascal;
Ellis, F.Richard;
Monnler, Nicole;
Lunardl, Joel;
McCarthy, Tommie V.

Publication type:

Article

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 399

By:

Macpherson, James N.;
Bullman, Hilary;
Youings, Sheila A.;
Jacobs, Patricia A.

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. 3, p. 530

By:

Savov, A.;
Mercier, B.;
Kalaydjieva, L.;
Férec, C.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 3, p. 529
Publication type:: Article

Trinucleotide repeat polymorphism at the PKLR locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 523

By:

Lenzner, C.;
Jacobasch, G.;
Reis, A.;
Thiele, B.;
Nürnberg, P.

Publication type:

Article

Two dinucleotide repeat polymorphisms at the DMD locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 523

By:

King, S.C.;
Stapleton, P.M.;
Walker, A.P.;
Love, D.R.

Publication type:

Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 3, p. 525
Publication type:: Article

A CA repeat polymorphism at D11S1383.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 522

By:

Saris, J. J.;
Vossen, R.H.A.M.;
Bakker, E.

Publication type:

Article

Bg/ll polymorphism in the UNG gene in 4 populations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 522

By:

Skorpen, Frank;
Krokan, Hans E.

Publication type:

Article

Tetranucleotide repeat polymorphism in RAF1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 521

By:

Mao, Li;
Sidransky, David

Publication type:

Article

CGG triple repeat polymorphism in VLDL receptor (VLDL-R) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 521

By:

Jokinen, Eero;
Sakai, Juro;
Yamamoto, Tokuo;
Hobbs, Helen H.

Publication type:

Article

Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 520

By:

Lin, Margaret J.;
Parsia, Sam S.;
Papolos, Demitri F.;
Lachman, Herbert M.

Publication type:

Article

Seven chromosome 22 STR polymorphisms.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 519

By:

Porter, Joanne C.;
Puck, Jenniter M.

Publication type:

Article

Dinucleotide repeat polymorphism in the VHL region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 520

By:

Loeb, Deborah;
Lui, Wango;
Smith, David I.;
Vance, Jeffery M.

Publication type:

Article

An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 517

By:

Bleyl, Steven;
Ainsworth, Peter;
Nelson, Lesa;
Viskochil, Dave;
Ward, Kenneth

Publication type:

Article

Six novel mutations in the α-galactosidase A gene in families with Fabry disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 503

By:

Amstel, J.K. Ploos van;
Jansen, R.P. M.;
de Jong, J.G.N.;
Hamel, B.C.J.;
Wevers, R.A.

Publication type:

Article

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 489

By:

Green, Eric D.;
ldol, Jacquelyn R.;
Mohr-Tldwell, Rose M.;
Braden, Valerie V.;
Peluso, Dale C.;
Fulton, Robert S.;
Massa, Hillary F.;
Magness, Charles L.;
Wllson, Alllson M.;
Kimura, Joe;
Welssenbach, Jean;
Trask, Barbara J.

Publication type:

Article

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 515

By:

Nells, Eva;
Timmerman, Vincent;
De Jonghe, Peter;
Van Broeckhoven, Christine

Publication type:

Article

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 513

By:

Savov, Alexey;
Jordanova, Albena;
Gavrilov, Dimitar;
Angelicheva, Dora;
Kalaydjieva, Luba

Publication type:

Article

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 511

By:

Madhatheri, Swama L.;
Tromp, Gerard;
Gustavson, Karl-Henrik;
Kulvanlemi, Helena

Publication type:

Article

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 507

By:

Dharmavaram, Rita M.;
Elberson, Margaret A.;
Peng, Minzhong;
Kirson, Lisa A.;
Kelley, Thaddeus E.;
Jimenez, Sergio A.

Publication type:

Article

Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 481

By:

Sargent, Carole A.;
Anderson, Michael J.;
Hsieh, Shie-Liang;
Kendall, Elaine;
Gomez-Escobar, Natalia;
Campbell, R.Duncan

Publication type:

Article

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 459

By:

Simard, Louise R.;
Prescott, Gary;
Rochette, Camille;
Morgan, Kenneth;
Lemleux, Bernard;
Mathleu, Jean;
Melançon, Serge B.;
Vanasse, Michel

Publication type:

Article

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 477

By:

Martasek, Pavel;
Nordmann, Yves;
Grandchamp, Bernard

Publication type:

Article

Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 465

By:

Toda, Tatsushi;
llda, Aritoshi;
Mlwa, Tokiko;
Nakamura, Yusuke;
Imal, Takashi

Publication type:

Article

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 455

By:

Bashlr, Rumaisa;
Strachan, Tom;
Keers, Sharon;
Stephenson, Anthea;
Mahjneh, Ibrahim;
Marconi, Giamplero;
Nashef, Lina;
Bushby, Kate M. D.

Publication type:

Article

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 449

By:

Petruzzella, Vittorla;
Moraes, Carlos T.;
Sano, Mary C.;
Bonilla, S Eduardo;
DiMauro, Salvatore;
Schon, Eric A.

Publication type:

Article

Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 447

By:

Bonifas, J. M.;
Bare, J. W.;
Kerschmann, R. L.;
Master, S. P.;
Epstein, E. H.

Publication type:

Article

Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 443

By:

Curtis, Lucy J.;
Bubb, Vivien J.;
Gledhlll, Sarah;
Morris, Robert G.;
Bird, Colin C.;
Wyllle, Andrew H.

Publication type:

Article

Mutations and polymorphisms of the gene encoding the β-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 429

By:

Colombo, Irma;
Finocchlaro, Gaetano;
Garavaglia, Barbara;
Garbugllo, Nicoletta;
Yamaguchl, S.;
Frerman, F.E.;
Berra, Bruno;
DiDonato, Stefano

Publication type:

Article

Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26 – 27).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 437

By:

Magnaghi, P.;
Citterio, E.;
Malgarettl, N.;
Acquati, F.;
Ottolenghi, S.;
Taramelli, R.

Publication type:

Article

Human microsomal epoxide hydrolase: genetic poloymorphism and functional expression in vitro of amino acid variants.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 421

By:

Hassett, Christopher;
Alcher, Lauri;
Sidhu, Jaspreet S.;
Omieclnskl, Curtls J.

Publication type:

Article

Exon scanning for mutation of the NF2 gene in schwannomas.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 413

By:

Jacoby, Lee B.;
MacCollin, Mia;
Louls, David N.;
Mohney, Trina;
Rublo, Mari-Paz;
Pulaski, Karen;
Trofatter, James A.;
Kley, Nikolai;
Seizinger, Bernd;
Ramesh, Vijaya;
Gusella, James F.

Publication type:

Article

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 407

By:

Haase, Volker H.;
Trofatter, James A.;
MacCollin, Mla;
Tarttelln, Emma;
Gusella, James F.;
Ramesh, Vijaya

Publication type:

Article

Frequency and stability of the fragile X premutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 393

By:

Reiss, Allan L.;
Kazazian, Haig H.;
Krebs, Claudia M.;
McAughan, Audrey;
Boehm, Corinne D.;
Abrams, Michael T.;
Nelson, David L.

Publication type:

Article