Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 22

Results: 13

Non-syndromic progressive hearingloss DFNA38 is caused by heterozygous missensemutation in the Wolfram syndrome gene WFS1.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2509, doi. 10.1093/hmg/10.22.2509

By:

Young, Terry-Lynn;
Ives, Elizabeth;
Lynch, Eric;
Person, Richard;
Snook, Stephanie;
MacLaren, Linda;
Cator, Tracey;
Griffin, Anne;
Fernandez, Bridget;
Lee, Ming K.;
King, Mary-Claire

Publication type:

Article

Mutations in the Wolfram syndrome1 gene (WFS1) are a common cause of low frequencysensorineural hearing loss.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2501, doi. 10.1093/hmg/10.22.2501

By:

Bespalova, Irina N.;
Camp, Guy Van;
J.H.Bom, Steven;
Brown, DavidJ.;
Cryns, Kim;
DeWan, Andrew T.;
Erson, AyseE.;
Flothmann, Kris;
P.M.Kunst, Henricus;
Kurnool, Purnima;
Sivakumaran, TheruA.;
Cremers, CorW.R.J.;
Leal, SuzanneM.;
Burmeister, Margit;
Lesperance, MarciM.

Publication type:

Article

Familial and sporadic forms ofcentral core disease are associated with mutations in the C-terminaldomain of the skeletal muscle ryanodine receptor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2581, doi. 10.1093/hmg/10.22.2581

By:

Monnier, Nicole;
Romero, Norma Beatriz;
Lerale, Joëlle;
Landrieu, Pierre;
Nivoche, Yves;
Fardeau, Michel;
Lunardi, Joël

Publication type:

Article

Similarities between spinocerebellarataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2569, doi. 10.1093/hmg/10.22.2569

By:

Zander, C.;
Takahashi, J.;
El Hachimi, K.H.;
Fujigasaki, H.;
Albanese, V.;
Lebre, A. S.;
Stevanin, G.;
Duyckaerts, C.;
Brice, A.

Publication type:

Article

Multiple pathogenic and benigngenomic rearrangements occur at a 35 kb duplication involving the NEMOandLAGE2 genes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2557, doi. 10.1093/hmg/10.22.2557

By:

Aradhya, Swaroop;
Bardaro, Tiziana;
Galgóczy, Petra;
Esposito, Teresa;
Patlan, Henry;
Ciccodicola, Alfredo;
Munnich, Arnold;
Kenwrick, Sue;
Platzer, Matthias;
D’Urso, Michele;
Nelson, David L.

Publication type:

Article

Mechanisms of MLL generearrangement: site-specific DNA cleavage within the breakpointcluster region is independent of chromosomal context.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2481, doi. 10.1093/hmg/10.22.2481

By:

Stanulla, Martin;
Chhalliyil, Pradheepkumar;
Wang, Junjie;
Jani-Sait, Sheila N.;
Aplan, Peter D.

Publication type:

Article

Selection of a mtDNA sequencevariant in hepatocytes of heteroplasmic mice is not due to differencesin respiratory chain function or efficiency of replication.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2469, doi. 10.1093/hmg/10.22.2469

By:

Battersby, Brendan J.;
Shoubridge, EricA.

Publication type:

Article

Inner ear localization of mRNAand protein products of COCH, mutated in the sensorineuraldeafness and vestibular disorder, DFNA9.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2493, doi. 10.1093/hmg/10.22.2493

By:

Robertson, Nahid G.;
Resendes, BarbaraL.;
Lin, Jason S.;
Lee, Charles;
Aster, JonC.;
Adams, Joe C.;
Morton, CynthiaC.

Publication type:

Article

The HD mutation causes progressivelethal neurological disease in mice expressing reduced levels ofhuntingtin.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2515, doi. 10.1093/hmg/10.22.2515

By:

Auerbach, Wojtek;
Hurlbert, MarcS.;
Hilditch-Maguire, Paige;
Wadghiri, Youssef Zaim;
Wheeler, Vanessa C.;
Cohen, Sara I.;
Joyner, AlexandraL.;
MacDonald, MarcyE.;
Turnbull, DanielH.

Publication type:

Article

Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2539, doi. 10.1093/hmg/10.22.2539

By:

Broughton, Bernard C.;
Berneburg, Mark;
Fawcett, Heather;
Taylor, ElaineM.;
Arlett, ColinF.;
Nardo, Tiziana;
Stefanini, Miria;
Menefee, Emory;
Price, Vera H.;
Queille, Sophie;
Sarasin, Alain;
Bohnert, Elisabeth;
Krutmann, Jean;
Davidson, Rosemarie;
Kraemer, Kenneth H.;
Lehmann, AlanR.

Publication type:

Article

Severe neural tube defects inthe loop-tailmouse result from mutation of Lpp1,a novel gene involved in floor plate specification.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2593, doi. 10.1093/hmg/10.22.2593

By:

Murdoch, Jennifer N.;
Doudney, Kit;
Paternotte, Caroline;
Copp, AndrewJ.;
Stanier, Philip

Publication type:

Article

Hyper-expression of human apolipoproteinE4 in astroglia and neurons does not enhance amyloid depositionin transgenic mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2525, doi. 10.1093/hmg/10.22.2525

By:

Lesuisse, Christian;
Xu, Guilian;
Anderson, Jeffery;
Wong, Molly;
Jankowsky, Joanna;
Holtz, Greg;
Gonzalez, Victoria;
Wong, Philip C.Y.;
Price, DonaldL.;
Tang, Fai;
Wagner, Steve;
Borchelt, DavidR.

Publication type:

Article

Mice overexpressing genes fromthe 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndromehave middle and inner ear defects.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2549, doi. 10.1093/hmg/10.22.2549

By:

Funke, Birgit;
Epstein, JonathanA.;
Kochilas, LazarosK.;
Lu, MinMin;
Pandita, RajK.;
Liao, Jun;
Bauerndistel, Ralf;
Schüler, Tanja;
Schorle, Hubert;
Brown, M. Christian;
Adams, Joe;
Morrow, Bernice E.

Publication type:

Article