Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 1

Results: 11

Domain disruption and mutation of the bZIP transcriptionfactor, MAF,associated with cataract, ocularanterior segment dysgenesis and coloboma.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 33, doi. 10.1093/hmg/11.1.33

By:

Jamieson, Robyn V.;
Perveen, Rahat;
Kerr, Bronwyn;
Carette, Martin;
Yardley, Jill;
Heon, Elise;
Wirth, M.Gabriela;
vanHeyningen, Veronica;
Donnai, Di;
Munier, Francis;
Black, Graeme C.M.

Publication type:

Article

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) aremutated in non-bullous congenital ichthyosiform erythroderma (NCIE)linked to chromosome 17p13.1.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 107, doi. 10.1093/hmg/11.1.107

By:

Jobard, Florence;
Lefèvre, Caroline;
Karaduman, Aysen;
Blanchet-Bardon, Claudine;
Emre, Serap;
Weissenbach, Jean;
Özgüc, Meral;
Lathrop, Mark;
Prud’homme, Jean-François;
Fischer, Judith

Publication type:

Article

Distinct subcellular expression of endogenous polycystin-2in the plasma membrane and Golgi apparatus of MDCK cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 59, doi. 10.1093/hmg/11.1.59

By:

Scheffers, Martijn S.;
Le, Hang;
vander Bent, Paola;
Leonhard, Wouter;
Prins, Frans;
Spruit, Lia;
Breuning, MartijnH.;
deHeer, Emile;
Peters, DorienJ. M.

Publication type:

Article

Disease-associated mutations in L1 CAM interferewith ligand interactions and cell-surface expression.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 1, doi. 10.1093/hmg/11.1.1

By:

De Angelis, Elena;
Watkins, Alex;
Schäfer, Michael;
Brümmendorf, Thomas;
Kenwrick, Sue

Publication type:

Article

Transduction of wild-type merlin into human schwannomacells decreases schwannoma cell growth and induces apoptosis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 69, doi. 10.1093/hmg/11.1.69

By:

Schulze, K. M. M.;
Hanemann, C.O.;
Müller, H.W.;
Hanenberg, H.

Publication type:

Article

Mutations in HPRP3, a third memberofpre-mRNA splicing factor genes, implicated inautosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 87, doi. 10.1093/hmg/11.1.87

By:

Chakarova, Christina F.;
Hims, Matthew M.;
Bolz, Hanno;
Abu-Safieh, Leen;
Patel, Reshma J.;
Papaioannou, MyrtoG.;
Inglehearn, ChrisF.;
Keen, T.Jeffrey;
Willis, Catherine;
Moore, AnthonyT.;
Rosenberg, Thomas;
Webster, Andrew R.;
Bird, Alan C.;
Gal, Andreas;
Hunt, David;
Vithana, Eranga N.;
Bhattacharya, ShomiS.

Publication type:

Article

Acute regression of advanced and retardation ofearly aortic atheroma in immunocompetent apolipoprotein-E (apoE)deficient mice by administration of a second generation [E1–,E3–, polymerase–] adenovirusvector expressing human apoE.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 43, doi. 10.1093/hmg/11.1.43

By:

Harris, Julian D.;
Graham, IanR.;
Schepelmann, Silke;
Stannard, Anita K.;
Roberts, Michael L.;
Hodges, BradleyL.;
Hill, Vanessa;
Amalfitano, Andrea;
Hassall, David G.;
Owen, James S.;
DicksonTowhom correspondence should be addressed. Tel: +44 1784443545; Fax: +44 1784 434326; Email: g.dickson@rhul.ac.uk, George

Publication type:

Article

Specific interaction of Smn, the spinal muscular atrophydetermining gene product, with hnRNP-R and gry-rbp/hnRNP-Q:a role for Smn in RNA processing in motor axons?

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 93, doi. 10.1093/hmg/11.1.93

By:

Rossoll, Wilfried;
Kröning, Ann-Kathrin;
Ohndorf, Uta-Maria;
Steegborn, Clemens;
Jablonka, Sibylle;
SendtnerTowhom correspondence should be addressed. Tel: +49 931 2015767; Fax: +49 931 201 2697; Email: sendtner@mail.uni-wuerzburg.deTheauthors wish it to be known that, in their opinion, the first twoauthors should be regarded as joint First ..., Michael

Publication type:

Article

Epigenetic analysis of the Dlk1–Gtl2 imprinteddomain on mouse chromosome 12: implications for imprinting controlfrom comparison with Igf2–H19.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 77, doi. 10.1093/hmg/11.1.77

By:

Takada, Shuji;
Paulsen, Martina;
Tevendale, Maxine;
Tsai, Chen-En;
Kelsey, Gavin;
Cattanach, Bruce M.;
Ferguson-Smith, AnneC.

Publication type:

Article

The molecular basis of dichromatic color visionin males with multiple red and green visual pigment genes.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 23, doi. 10.1093/hmg/11.1.23

By:

Jagla, Wolfgang M.;
Jägle, Herbert;
Hayashi, Takaaki;
Sharpe, Lindsay T.;
Deeb, Samir S.

Publication type:

Article

Chromosome-wide assessment of replication timingfor human chromosomes 11q and 21q: disease-related genes in timing-switchregions.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 1, p. 13, doi. 10.1093/hmg/11.1.13

By:

Watanabe, Yoshihisa;
Fujiyama, Asao;
Ichiba, Yuta;
Hattori, Masahira;
Yada, Tetsushi;
Sakaki, Yoshiyuki;
Ikemura, Toshimichi

Publication type:

Article