Works matching IS 09646906 AND DT 1992 AND VI 1 AND IP 9

Results: 38

Author Index.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 791
Publication type:
Article
Subject Index.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 785
Publication type:
Article
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 784
By:
- Kuwano, A.;
- Mutirangura, A.;
- Dittrich, B.;
- Buiting, K.;
- Horsthemke, B.;
- Saitoh, S.;
- Niikawa, N.;
- Ledbetter, S.A.;
- Greenberg, F.;
- Chinault, A.C.;
- Ledbetter, D.H.
Publication type:
Article
Author index.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 783
Publication type:
Article
A common EcoRI polymorphism at the ZFX locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 782
By:
- Ellison, Jay;
- Alles, Catherine;
- Shapiro, Larry
Publication type:
Article
Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 782
By:
- Goto, J.;
- Figlewicz, D.A.;
- Gnirke, A.;
- Khodr, N.;
- Krizus, A.;
- Rouleau, G.A.
Publication type:
Article
PCR detection of a dinucleotide repeat in the human histidine-rich glycoprotein (HRG) gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 781
By:
- Hennis, B.C.;
- Havelaar, A.C.;
- Kluft, C.
Publication type:
Article
An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 781
By:
- Rogaev, E.;
- Rogaeva, E.;
- Lukiw, W.J.;
- Vaula, G.;
- Liang, Y.;
- Hancock, R.;
- McLachlan, D.Crapper;
- St George-Hyslop, P.H.
Publication type:
Article
Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 780
By:
- Wang, Y.;
- Sadler, L.;
- Hecht, J.T.
Publication type:
Article
Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 780
By:
- Zhang, Z.P.;
- Deng, L.P.;
- Blombäck, M.;
- Anvret, M.
Publication type:
Article
Dinucleotide repeat polymorphism at the D18S74E locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 779
By:
- Polymeropoulos, Mihael H.;
- Xiao, Hong;
- Merril, Carl R.
Publication type:
Article
Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 779
By:
- Mills, Kathleen A.;
- Even, DeeAnn;
- Murray, Jeffray C.
Publication type:
Article
An Rsal polymorphism in the human serotonin receptor gene (HTR1A): detection by DGGE and RFLP analysis.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 778
By:
- Warren, James T.;
- Michael, L.Peacock;
- Fink, John K.
Publication type:
Article
Dinucleotide repeat polymorphism at the DXS559 locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 778
By:
- Roustan, P.;
- Curtis, A.R.J.;
- Kamakari, S.;
- Thiselton, D.;
- Lindsay, S.;
- Bhattacharya, S.S.
Publication type:
Article
Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 777
By:
- Decker, Ruth A.;
- Ponder, Bruce A.;
- Mole, Sara E.;
- Weber, James L.
Publication type:
Article
Two dinucleotide repeat polymorphisms at the DXS571 locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 776
By:
- Curtis, A.R.J.;
- Roustan, P.;
- Kamakari, S.;
- Thiselton, D.;
- Lindsay, S.;
- Bhattacharya, S.S.
Publication type:
Article
CCG repeat polymorphism at the c-Ha-ras oncogene locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 775
By:
- Riggins, Gregory J.;
- Lokey, Laurie K.;
- Warren, Stephen T.
Publication type:
Article
A highly polymorphic polypurine sequence on chromosome 8 (D8S210).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 774
By:
- Brereton, Helen M.;
- Turner, David R.;
- Firgaira, Frank A.;
- Ruffin, Richard E.
Publication type:
Article
Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D1 6S320.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 773
By:
- Shen, Y.;
- Thompson, A.T.;
- Holman, K.;
- Callen, D.F.;
- Sutherland, G.R.;
- Richards, R.I.
Publication type:
Article
Autosomal dominant Retinitis Pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 769
By:
- Farrar, G.J.;
- Findlay, J.B.C.;
- Kumar-Singh, R.;
- Kenna, P.;
- Humphries, M.M.;
- Sharpe, E.;
- Humphries, P.
Publication type:
Article
A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 767
By:
- Zhang, Z.P.;
- Falk, G.;
- Blombäck, M.;
- Egberg, N.;
- Anveret, M.
Publication type:
Article
A new PKU mutation associated with haplotype 12.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 765
By:
- Desviat, Lourdes R.;
- Pérez, Belén;
- Ugarte, Magdalena
Publication type:
Article
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 763
By:
- Jeruzelska, Jadwiga;
- Melle, Dominique;
- Matuszak, Renata;
- Borski, Krzysztof;
- Munnich, Arnold
Publication type:
Article
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 759
By:
- Fernandes, Maria;
- Kaplan, Feige;
- Natowicz, Marvin;
- Prence, Elizabeth;
- Kolodny, Edwin;
- Kaback, Michael;
- Hachtman, Peter
Publication type:
Article
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 755
By:
- Crotty, Paul L.;
- Braun, Stephen E.;
- Anderson, Rose Ann;
- Whitley, Chester B.
Publication type:
Article
The putative centromere-forming sequence λCM8 is a single copy sequence and is not a component of most human centrnmeres.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 753
By:
- Cooper, Katrina F.;
- Tyler-Smith, Chris
Publication type:
Article
λCM8, a human sequence with putative centromeric function, does not map to the centromere but is present in one to two copies at 9qter.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 749
By:
- McGill, Niolette I.;
- Fantes, Judith;
- Cooke, Howard
Publication type:
Article
Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 741
By:
- Johnson, Daniel H.;
- Kroisel, Peter M.;
- Klapper, Helene J.;
- Rosenkranz, Walter
Publication type:
Article
Molecular isolation and characterization of an expressed gene from the human Y chromosome.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 717
By:
- Zhang, Julie S.;
- Yang-Feng, Teresa L.;
- Muller, Ulrich;
- Mohandas, T.K.;
- de Jong, Pieter J.;
- Lau, Yan-Fai Chris
Publication type:
Article
High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 709
By:
- Lipscombe, R.J.;
- Sumiya, M.;
- Hill, A.V.S.;
- Lau, Y.L.;
- Levinsky, R.J.;
- Summerfield, J.A.;
- Turner, M.W.
Publication type:
Article
A novel G protein-coupled receptor kinase gene cloned from 4p16.3.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 697
By:
- Ambrose, Christine;
- James, Marianne;
- Barnes, Glenn;
- Lin, Carol;
- Bates, Gillian;
- Altherr, Michael;
- Duyao, Mabel;
- Groot, Nicolet;
- Church, Deanna;
- Wasmuth, John J.;
- Lehrach, Hans;
- Housman, David;
- Buckler, Alan;
- Gusella, James F.;
- MacDonald, Marcy E.
Publication type:
Article
Cloning and characterization of an interstitial deletion at chromosome 11p15 in a sporadic breast cancer.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 705
By:
- Miyagi, Mutsuko;
- Inazawa, Johji;
- Takita, Ken-ichi;
- Nakamura, Yusuke
Publication type:
Article
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 685
By:
- Stone, Edwin M.;
- Kimura, Alan E.;
- Folk, James C.;
- Bennett, Steven R.;
- Nichols, Brian E.;
- Streb, Luan M.;
- Sheffield, Val C.
Publication type:
Article
Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 681
By:
- Milatovich, Athena;
- Hsieh, Chih-Lin;
- Bonaminio, Giulia;
- Tecott, Larry;
- Francke, Uta
Publication type:
Article
Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 1 4q11.2 – 12).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 677
By:
- Harrison, Lynn;
- Ascione, Gian;
- Menninger, John C.;
- Ward, David C.;
- Demple, Bruce
Publication type:
Article
Cloning and mapping of the α-adducin gene close to D4S95 and assessment of its relationship to Huntington disease.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 669
By:
- Goldberg, Y.P.;
- Lin, B.-Y.;
- Andrew, S.E.;
- Nasir, J.;
- Graham, R.;
- Glaves, M.L.;
- Hutchinson, G.;
- Theilmann, J.;
- Ginzinger, D.G.;
- Schappert, K.;
- Clarke, L.;
- Rommens, J.M.;
- Hayden, M.R.
Publication type:
Article
Centromeres-primary constrictions are primarily complicated.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 667
By:
- Willard, Huntington F.
Publication type:
Article
La carte des microsatellites est arrivée!
Published in:
Human Molecular Genetics, 1992, v. 1, n. 9, p. 663
By:
- Todd, John A.
Publication type:
Article