Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 4

Results: 22

The UTX gene escapes X inactivation in mice and humans.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 737, doi. 10.1093/hmg/7.4.737

By:

Greenfield, Andy;
Carrel, Laura;
Pennisi, David;
Philippe, Christophe;
Quaderi, Nandita;
Siggers, Pamela;
Steiner, Kirsten;
Tam, Patrick P. L.;
Monaco, Anthony P.;
Willard, Huntington F.;
Koopman, Peter

Publication type:

Article

Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 685, doi. 10.1093/hmg/7.4.685

By:

Twigg, Stephen R. F.;
Burns, Helen D.;
Oldridge, Michael;
Heath, John K.;
Wilkie, Andrew O. M.

Publication type:

Article

IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 597, doi. 10.1093/hmg/7.4.597

By:

Dao, Diem;
Frank, Dale;
Qian, Naifeng;
O, Denise;
Vosatka, Robert J.;
Walsh, Colum P.;
Tycko, Benjamin

Publication type:

Article

A sea urchin gene encoding dystrophin-related proteins.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 581, doi. 10.1093/hmg/7.4.581

By:

Wang, Jun;
Pansky, Avi;
Venuti, Judith M.;
Yaffe, David;
Nudel, Uri

Publication type:

Article

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 709, doi. 10.1093/hmg/7.4.709

By:

Klamt, Barbara;
Koziell, Ania;
Poulat, Francis;
Wieacker, Peter;
Scambler, Peter;
Berta, Philippe;
Gessler, Manfred

Publication type:

Article

Localization of motor-related proteins and associated complexes to active, but not inactive, centromeres.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 671, doi. 10.1093/hmg/7.4.671

By:

Faulkner, Nicole E.;
Vig, Baldev;
Echeverri, Christophe J.;
Wordeman, Linda;
Vallee, Richard B.

Publication type:

Article

Non-disjunction of chromosome 18.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 661, doi. 10.1093/hmg/7.4.661

By:

Bugge, Merete;
Collins, Andrew;
Petersen, Michael B.;
Fisher, Julia;
Brandt, Carsten;
Hertz, Jens Michael;
Tranebjærg, Lisbeth;
de Lozier‐Blanchet, Celia;
Nicolaides, Peter;
Brøndum‐Nielsen, Karen;
Morton, Newton;
Mikkelsen, Margareta

Publication type:

Article

Dystrophins in vertebrates and invertebrates.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 589, doi. 10.1093/hmg/7.4.589

By:

Roberts, Roland G.;
Bobrow, Martin

Publication type:

Article

Specific interaction between the XNP /ATR-X gene product and the SET domain of the human EZH2 protein.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 679, doi. 10.1093/hmg/7.4.679

By:

Cardoso, Carlos;
Timsit, Serge;
Villard, Laurent;
Khrestchatisky, Michel;
Fontès, Michel;
Colleaux, Laurence

Publication type:

Article

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase ( SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case ...

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 619, doi. 10.1093/hmg/7.4.619

By:

Gregersen, Niels;
Winter, Vibeke S.;
Corydon, Morten J.;
Corydon, Thomas J.;
Rinaldo, Piero;
Ribes, Antonia;
Martinez, Gemma;
Bennett, Michael J.;
Vianey‐Saban, Christine;
Bhala, Ajay;
Hale, Daniel E.;
Lehnert, Willy;
Kmoch, Stanislav;
Roig, Manel;
Riudor, Encamaclo;
Eiberg, Hans;
Andresen, Brage S.;
Bross, Peter;
Bolund, Lars A.;
Kølvraa, Steen

Publication type:

Article

Metaphase fragility of the human RNU1 and RNU2 loci is induced by actinomycin D through a p53-dependent pathway.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 609

By:

Yu, Adong;
Bailey, Arnold D.;
Weiner, Alan M.

Publication type:

Article

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 629, doi. 10.1093/hmg/7.4.629

By:

Lindsay, Elizabeth A.;
Harvey, Emma L.;
Scambler, Peter J.;
Baldini, Antonio

Publication type:

Article

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 703, doi. 10.1093/hmg/7.4.703

By:

Hodgkinson, Colin A.;
Nakayama, Atsuo;
Li, Hua;
Swenson, Lori‐Beth;
Opdecamp, Karin;
AsherJr, James H.;
Arnheiter, Heinz;
Glaser, Tom

Publication type:

Article

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 715

By:

Mickle, John E.;
Macek Jr, Milan;
Fulmer‐Smentek, Stephanie B.;
Egan, Michelle M.;
Schwiebert, Erik;
Guggino, William;
Moss, Richard;
Cutting, Garry R.

Publication type:

Article

Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 755, doi. 10.1093/hmg/7.4.755

By:

Le Beau, Michelle M.;
Rassool, Feyruz V.;
Neilly, Mary E.;
Espinosa III, Rafael;
Glover, Thomas W.;
Smith, David I.;
McKeithan, Timothy W.

Publication type:

Article

Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 751, doi. 10.1093/hmg/7.4.751

By:

Vaughan, Jenny R.;
Farrer, Matthew J.;
Wszolek, Zbigniew K.;
Gasser, Thomas;
Durr, Alexandra;
Agid, Yves;
Bonifati, Vincenzo;
DeMichele, Giuseppe;
Volpe, Gianpiero;
Lincoln, Sarah;
Breteler, Monique;
Meco, Giuseppe;
Brice, Alexis;
Marsden, C. David;
Hardy, John;
Wood, Nicholas W.

Publication type:

Article

Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 743, doi. 10.1093/hmg/7.4.743

By:

Wen, Xiao‐Yan;
Bryce, Dawn M.;
Breitman, Martin L.

Publication type:

Article

Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 693, doi. 10.1093/hmg/7.4.693

By:

Merry, D. E.;
Kobayashi, Y.;
Bailey, C. K.;
Taye, A. A.;
Fischbeck, K. H.

Publication type:

Article

Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 723, doi. 10.1093/hmg/7.4.715

By:

Mahadevaiah, Shantha K.;
Odorisio, Teresa;
Elliott, David J.;
Rattigan, Áine;
Szot, Maria;
Laval, Steven H.;
Washburn, Linda L.;
McCarrey, John R.;
Cattanach, Bruce M.;
Lovell‐Badge, Robin;
Burgoyne, Paul S.

Publication type:

Article

The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 637, doi. 10.1093/hmg/7.4.637

By:

Smedley, Damian;
Hamoudi, Rifat;
Clark, Jeremy;
Warren, William;
Abdul‐Rauf, Munah;
Somers, Gino;
Venter, Deon;
Fagan, Kerry;
Cooper, Colin;
Shipley, Janet

Publication type:

Article

Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 655, doi. 10.1093/hmg/7.4.655

By:

Bouzekri, Nourdine;
Taylor, Paul G.;
Hammer, Michael F.;
Jobling, Mark A.

Publication type:

Article

Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 ( DYF155S1 ).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 643, doi. 10.1093/hmg/7.4.643

By:

Jobling, Mark A.;
Bouzekri, Nourdine;
Taylor, Paul G.

Publication type:

Article