Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 6

Results: 19

The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 921, doi. 10.1093/hmg/6.6.921
By:
- Bryan, Tracy M.;
- Marusic, Lidija;
- Bacchetti, Silvia;
- Namba, Masayoshi;
- Reddel, Roger R.
Publication type:
Article
Evolutionary Silencing of the Human Elastase I Gene (ELA1).
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 897, doi. 10.1093/hmg/6.6.897
By:
- Rose, Scott D.;
- MacDonald, Raymond J.
Publication type:
Article
Dystroglycan Is Essential for Early Embryonic Development: Disruption of Reichert's Membrane in Dag1-Null Mice.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 831, doi. 10.1093/hmg/6.6.831
By:
- Williamson, Roger A.;
- Henry, Michael D.;
- Daniels, Karla J.;
- Hrstka, Ronald F.;
- Lee, Jane C.;
- Sunada, Yoshihide;
- Ibraghimov-Beskrovnaya, Oxana;
- Campbell, Kevin P.
Publication type:
Article
A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 909, doi. 10.1093/hmg/6.6.909
By:
- Cogan, Joy D.;
- Prince, Melissa A.;
- Lekhakula, Somsong;
- Bundey, Sarah;
- Futrakul, Aree;
- McCarthy, Eleanor M. S.;
- Phillips, John A.
Publication type:
Article
An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 943, doi. 10.1093/hmg/6.6.943
By:
- Steinlein, Ortrud K.;
- Magnusson, Andres;
- Stoodt, Jens;
- Bertrand, Sonia;
- Weiland, Sigrid;
- Berkovic, Samuel F.;
- Nakken, Karl O.;
- Propping, Peter;
- Bertrand, Daniel
Publication type:
Article
Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 851, doi. 10.1093/hmg/6.6.851
By:
- van den Hurk, José A. J. M.;
- Hendriks, Wiljan;
- van de Pol, Dorien J. R.;
- Oerlemans, Frank;
- Jaissle, Gesine;
- Ruther, Klaus;
- Kohler, Konrad;
- Hartmann, Jens;
- Zrenner, Eberhart;
- van Bokhoven, Hans;
- Wieringa, Bé;
- Ropers, Hans-Hilger;
- Cremers, Frans P. M.
Publication type:
Article
Expression of Mutated Glucocerebrosidase Alleles in Human Cells.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 887, doi. 10.1093/hmg/6.6.887
By:
- Pasmanik-Chor, Metsada;
- Madar-Shapiro, Liora;
- Elroy Stein, Orna;
- Aerts, Hans;
- Gatt, Shimon;
- Horowitz, Mia
Publication type:
Article
A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 953, doi. 10.1093/hmg/6.6.953
By:
- Robinson, Rachel L.;
- Monnier, Nicole;
- Wolz, Werner;
- Jung, Martin;
- Reis, André;
- Nuernberg, Gudrun;
- Curran, Julie L.;
- Monsieurs, Koen;
- Stieglitz, Paul;
- Heytens, Luc;
- Fricker, Ruth;
- van Broeckhoven, Christine;
- Deufel, Thomas;
- Hopkins, Phil M.;
- Lunardi, Joel;
- Mueller, Clemens R.
Publication type:
Article
A Translation Frameshift Mutation Induced by a Cytosine Insertion in the Polycystic Kidney Disease 2 Gene (PKD2).
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 949, doi. 10.1093/hmg/6.6.949
By:
- Xenophontos, Stavroulla;
- Constantinides, Rolandos;
- Hayashi, Tomohito;
- Mochizuki, Toshio;
- Somlo, Stefan;
- Pierides, Alkis;
- Constantinou Deltas, C.
Publication type:
Article
Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 935, doi. 10.1093/hmg/6.6.935
By:
- Taanman, J.-W.;
- Bodnar, A. G.;
- Cooper, J. M.;
- Morris, A. A. M.;
- Clayton, P. T.;
- Leonard, J. V.;
- Schapira, A. H. V.
Publication type:
Article
Leptin Receptor Gene Variation and Obesity: Lack of Association in a White British Male Population.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 869, doi. 10.1093/hmg/6.6.869
By:
- Gotoda, Takanari;
- Manning, Brian S.;
- Goldstone, Anthony P.;
- Imrie, Helen;
- Evans, Alison L.;
- Strosberg, A. Donny;
- McKeigue, Paul M.;
- Scott, James;
- Aitman, Timothy J.
Publication type:
Article
A Novel Candidate Tumour Suppressor Locus at 9q32–33 in Bladder Cancer: Localization of the Candidate Region Within a Single 840 kb YAC.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 913, doi. 10.1093/hmg/6.6.913
By:
- Habuchi, Tomonori;
- Yoshida, Osamu;
- Knowles, Margaret A.
Publication type:
Article
Advanced Telomere Shortening in Respiratory Chain Disorders.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 905, doi. 10.1093/hmg/6.6.905
By:
- Oexle, Konrad;
- Zwirner, Angelika
Publication type:
Article
Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 877, doi. 10.1093/hmg/6.6.877
By:
- Martorell, Loreto;
- Johnson, Keith;
- Boucher, Catherine A.;
- Baiget, Montserrat
Publication type:
Article
The Human Achaete-Scute Homologue 2 (ASCL2, HASH2) Maps to Chromosome 11p15.5, Close to IGF2 and is Expressed in Extravillus Trophoblasts.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 859, doi. 10.1093/hmg/6.6.859
By:
- Alders, Mariëlle;
- Hodges, Matthew;
- Hadjantonakis, Anna-Katerina;
- Postmus, Jan;
- van Wijk, Inge;
- Bliek, Jet;
- de Meulemeester, Maurice;
- Westerveld, Andries;
- Guillemot, François;
- Oudejans, Cees;
- Little, Peter;
- Mannens, Marcel
Publication type:
Article
A Model of Corrective Gene Transfer in X-Linked Ichthyosis.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 927, doi. 10.1093/hmg/6.6.927
By:
- Freiberg, Rachel A.;
- Choate, Keith A.;
- Deng, Helen;
- Alperin, Elisabeth S.;
- Shapiro, Larry J.;
- Khavari, Paul A.
Publication type:
Article
A Novel Mechanism Generating Short Deletion/Insertions Following Slippage is Suggested by a Mutation in the Human α2-Globin Gene.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 881, doi. 10.1093/hmg/6.6.881
By:
- Oron-Karni, Varda;
- Filon, Dvora;
- Rund, Deborah;
- Oppenheim, Ariella
Publication type:
Article
‘Late Onset’ Ornithine Transcarbamylase Deficiency: Function of Three Purified Recombinant Mutant Enzymes.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 963, doi. 10.1093/hmg/6.6.963
By:
- Morizono, Hiroki;
- Listrom, Chad D.;
- Rajagopal, B. S.;
- Aoyagi, Mika;
- McCann, Mark T.;
- Allewell, Norma M.;
- Tuchman, Mendel
Publication type:
Article
Evolution of the Human RH (Rhesus) Blood Group Genes: A 50 Year Old Prediction (Partially) Fulfilled.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 6, p. 843, doi. 10.1093/hmg/6.6.843
By:
- Carritt, B.;
- Kemp, T. J.;
- Poulter, M.
Publication type:
Article