Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 25

Results: 11

A genome screen for genes predisposingto bipolar affective disorder detects a new susceptibility locus on 8q.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2933, doi. 10.1093/hmg/10.25.2933

By:

Cichon, Sven;
Schumacher, Johannes;
Müller, Daniel J.;
Windemuth, Christine;
Strauch, Konstantin;
Hemmer, Susanne;
Schulze, Thomas G.;
Schmidt-Wolf, Gabriele;
Albus, Margot;
Borrmann-Hassenbach, Margitta;
Franzek, Ernst;
Lanczik, Mario;
Fritze, Jürgen;
Kreiner, Roland;
Reuner, Ulrike;
Weigelt, Bettina;
Minges, Jürgen;
Lichtermann, Dirk;
Lerer, Bernhard;
Kanyas, Kyra

Publication type:

Article

TSC2 missensemutations inhibit tuberin phosphorylation and prevent formationof the tuberin–hamartin complex.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2889, doi. 10.1093/hmg/10.25.2889

By:

Nellist, Mark;
Verhaaf, Brenda;
Goedbloed, MiriamA.;
Reuser, ArnoldJ.J.;
van den Ouweland, Ans M.W.;
Halley, DickyJ.J.

Publication type:

Article

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin andtuberin.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2899, doi. 10.1093/hmg/10.25.2899

By:

Hodges, Angela K.;
Li, Shaowei;
Maynard, Julie;
Parry, Lee;
Braverman, Richard;
Cheadle, Jeremy P.;
DeClue, JeffreyE.;
Sampson, JulianR.

Publication type:

Article

LIP1, a cytoplasmic protein functionallylinked to the Peutz-Jeghers syndrome kinase LKB1.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2869, doi. 10.1093/hmg/10.25.2869

By:

Smith, Darrin P.;
Rayter, Sydonia I.;
Niederlander, Christiane;
Spicer, James;
Jones, C. Mike;
Ashworth, Alan

Publication type:

Article

Dissection of the HLA associationwith multiple sclerosis in the founder isolated population of Sardinia.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2907, doi. 10.1093/hmg/10.25.2907

By:

Marrosu, Maria Giovanna;
Murru, Raffaele;
Murru, MariaRita;
Costa, Gianna;
Zavattari, Patrizia;
Whalen, Michael;
Cocco, Eleonora;
Mancosu, Cristina;
Schirru, Lucia;
Solla, Elisabetta;
Fadda, Elisabetta;
Melis, Cristina;
Porru, Ilaria;
Rolesu, Marcella;
Cucca, Francesco

Publication type:

Article

DNA methyltransferase 3B mutationslinked to the ICF syndrome cause dysregulation of lymphogenesisgenes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2917, doi. 10.1093/hmg/10.25.2917

By:

Ehrlich, Melanie;
Buchanan, KentL.;
Tsien, Fern;
Jiang, Guanchao;
Sun, Baodong;
Uicker, William;
Weemaes, CorryM.R.;
Smeets, Dominique;
Sperling, Karl;
Belohradsky, Bernd H.;
Tommerup, Niels;
Misek, David E.;
Rouillard, Jean-Marie;
Kuick, Rork;
Hanash, SamirM.

Publication type:

Article

Identification of four novelmutations in the C-terminal membrane spanning domain of the ryanodinereceptor 1: association with central core disease and alterationof calcium homeostasis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2879, doi. 10.1093/hmg/10.25.2879

By:

Tilgen, Nikola;
Zorzato, Francesco;
Halliger-Keller, Birgit;
Muntoni, Francesco;
Sewry, Caroline;
Palmucci, Laura M.;
Schneider, Christiane;
Hauser, Erwin;
Lehmann-Horn, Frank;
Müller, Clemens R.;
Treves, Susan

Publication type:

Article

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2Ias a milder allelic variant of congenital muscular dystrophy MDC1C.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2851, doi. 10.1093/hmg/10.25.2851

By:

Brockington, Martin;
Yuva, Yeliz;
Prandini, Paola;
Brown, Susan C.;
Torelli, Silvia;
Benson, Matthew A.;
Herrmann, Ralf;
Anderson, Louise V.B.;
Bashir, Rumaisa;
Burgunder, Jean-Marc;
Fallet, Shari;
Romero, Norma;
Fardeau, Michel;
Straub, Volker;
Storey, Gillian;
Pollitt, Christine;
Richard, Isabelle;
Sewry, Caroline A.;
Bushby, Kate;
Voit, Thomas

Publication type:

Article

Mutations in GJA1(connexin43) are associated with non-syndromic autosomal recessive deafness.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2945, doi. 10.1093/hmg/10.25.2945

By:

Liu, Xue Zhong;
Xia, XiaJuan;
Adams, Joe;
Chen, Zheng Yi;
Welch, KatherineO.;
Tekin, Mustafa;
Ouyang, Xiao Mei;
Kristiansen, Arther;
Pandya, Arti;
Balkany, Thomas;
Arnos, Kathleen S.;
Nance, Walter E.

Publication type:

Article

Interaction between krit1 andicap1α infers perturbation ofintegrin β1-mediatedangiogenesis in the pathogenesis of cerebral cavernous malformation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2953, doi. 10.1093/hmg/10.25.2953

By:

Zhang, Jun;
Clatterbuck, RichardE.;
Rigamonti, Daniele;
Chang, David D.;
Dietz, Harry C.

Publication type:

Article

Albers-Schönberg disease (autosomal dominant osteopetrosis,type II) results from mutations in the ClCN7chloride channel gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2861, doi. 10.1093/hmg/10.25.2861

By:

Cleiren, Erna;
Bénichou, Olivier;
Hul, Els Van;
Gram, Jeppe;
Bollerslev, Jens;
Singer, Frederick R.;
Beaverson, Katherine;
Aledo, Alexander;
Whyte, Michael P.;
Yoneyama, Tatsuo;
deVernejoul, Marie-Christine;
Hul, Wim Van

Publication type:

Article