Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 8

Results: 24

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 835, doi. 10.1093/hmg/10.8.835

By:

Chaudhry, Shazia S.;
Gazzard, James;
Baldock, Clair;
Dixon, Jill;
Rock, Matthew J.;
Skinner, Gail C.;
Steel, Karen P.;
Kielty, Cay M.;
Dixon, Michael J.

Publication type:

Article

‘Mitotic drive’ of expanded CTG repeats in myotonic dystrophy type 1 (DM1).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 855, doi. 10.1093/hmg/10.8.855

By:

Khajavi, Mehrdad;
Tari, Ana M.;
Patel, Nalini B.;
Tsuji, Kuniko;
Siwak, Doris R.;
Meistrich, Marvin L.;
Terry, Nicholas H. A.;
Ashizawa, Tetsuo

Publication type:

Article

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 845, doi. 10.1093/hmg/10.8.845

By:

Gomes-Pereira, Mário;
Fortune, M. Teresa;
Monckton, Darren G.

Publication type:

Article

Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815

By:

Ogorelkova, Miroslava;
Kraft, Hans G.;
Ehnholm, Christian;
Utermann, Gerd

Publication type:

Article

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 875, doi. 10.1093/hmg/10.8.875

By:

Fischer, Judith;
Bouadjar, Bakar;
Heilig, Roland;
Huber, Marcel;
Lefèvre, Caroline;
Jobard, Florence;
Macari, Françoise;
Bakija-Konsuo, Ana;
Ait-Belkacem, Farid;
Weissenbach, Jean;
Lathrop, Mark;
Hohl, Daniel;
Prud'homme, Jean-François

Publication type:

Article

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797

By:

Nothwang, Hans Gerd;
Kim, H. G.;
Aoki, J.;
Geisterfer, M.;
Kübart, S.;
Wegner, R. D.;
Van Moers, A.;
Ashworth, L. K.;
Haaf, T.;
Bell, J.;
Arai, H.;
Tommerup, N.;
Ropers, H. H.;
Wirth, J.

Publication type:

Article

The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the ‘open’ conformation and suppresses cell growth and motility.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 825, doi. 10.1093/hmg/10.8.825

By:

Gutmann, David H.;
Haipek, Carrie A.;
Burke, Stephen P.;
Sun, Chun-Xiao;
Scoles, Daniel R.;
Pulst, Stefan M.

Publication type:

Article

Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 807, doi. 10.1093/hmg/10.8.807

By:

Jones, Beverly K.;
Levorse, John;
Tilghman, Shirley M.

Publication type:

Article

Meta-analysis for linkage to asthma and atopy in the chromosome 5q31–33 candidate region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 891, doi. 10.1093/hmg/10.8.891

By:

Palmer, Lyle J.;
Barnes, Kathleen C.;
Burton, Paul R.;
Chen, Hong;
Cookson, William O. C. M.;
Deichmann, Klaus A.;
Elston, Robert C.;
Holloway, John W.;
Jacobs, Kevin B.;
Laitinen, Tarja;
Wjst, Matthias

Publication type:

Article

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791

By:

Brown, Lúcia Y.;
Odent, Sylvie;
David, Véronique;
Blayau, Martine;
Dubourg, Christèle;
Apacik, Can;
Delgado, Mauricio A.;
Hall, Bryan D.;
Reynolds, James F.;
Sommer, Annemarie;
Wieczorek, Dagmar;
Brown, Stephen A.;
Muenke, Maximilian

Publication type:

Article

Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865

By:

Nishimura, Darryl Y.;
Searby, Charles C.;
Carmi, Rivka;
Elbedour, Khalil;
Maldergem, Lionel Van;
Fulton, Anne B.;
Lam, Byron L.;
Powell, Berkley R.;
Swiderski, Ruth E.;
Bugge, Kevin E.;
Haider, Neena B.;
Kwitek-Black, Anne E.;
Ying, Lihua;
Duhl, David M.;
Gorman, Susan W.;
Heon, Elise;
Iannaccone, Alessandro;
Bonneau, Dominique;
Biesecker, Leslie G.;
Jacobson, Samuel G.

Publication type:

Article

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 881, doi. 10.1093/hmg/10.8.881

By:

Zavattari, Patrizia;
Lampis, Rosanna;
Motzo, Costantino;
Loddo, Miriam;
Mulargia, Annapaola;
Whalen, Michael;
Maioli, Mario;
Angius, Efisio;
Tod, John A.;
Cucca, Francesco

Publication type:

Article

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1 , -DRB1 disease loci.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 881, doi. 10.1093/hmg/10.8.881

By:

Zavattari, Patrizia;
Lampis, Rosanna;
Motzo, Costantino;
Loddo, Miriam;
Mulargia, Annapaola;
Whalen, Michael;
Maioli, Mario;
Angius, Efisio;
Todd, John A.;
Cucca, Francesco

Publication type:

Article

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865

By:

Nishimura, Darryl Y.;
Searby, Charles C.;
Carmi, Rivka;
Elbedour, Khalil;
Maldergem, Lionel Van;
Fulton, Anne B.;
Lam, Byron L.;
Powell, Berkley R.;
Swiderski, Ruth E.;
Bugge, Kevin E.;
Haider, Neena B.;
Kwitek-Black, Anne E.;
Ying, Lihua;
Duhl, David M.;
Gorman, Susan W.;
Heon, Elise;
Iannaccone, Alessandro;
Bonneau, Dominique;
Biesecker, Leslie G.;
Jacobson, Samuel G.

Publication type:

Article

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791

By:

Brown, Lúcia Y.;
Odent, Sylvie;
David, Véronique;
Blayau, Martine;
Dubourg, Christèle;
Apacik, Can

Publication type:

Article

Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 891, doi. 10.1093/hmg/10.8.891

By:

Palmer, Lyle J.

Publication type:

Article

Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 807, doi. 10.1093/hmg/10.8.807

By:

Jones, Beverly K.

Publication type:

Article

The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation and suppresses cell growth and motility.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 825, doi. 10.1093/hmg/10.8.825

By:

Gutmann, David H.

Publication type:

Article

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797

By:

Nothwang, Hans Gerd;
Kim, H.G.;
Aoki, J.;
Geisterfer, M.;
Kübart, S.;
Wegner, R. D.;
Moers, A. van;
Ashworth, L. K.;
Haaf, T.;
Bell, J.;
Arai, H.;
Tommerup, N.;
Ropers, H. H.

Publication type:

Article

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 835, doi. 10.1093/hmg/10.8.835

By:

Chaudhry, Shazia S.

Publication type:

Article

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 875, doi. 10.1093/hmg/10.8.875

By:

Fischer, Judith

Publication type:

Article

Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815

By:

Ogorelkova, Miroslava;
Kraft, Hans G.;
Ehnholm, Christian;
Utermann, Gerd

Publication type:

Article

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 845, doi. 10.1093/hmg/10.8.845

By:

Gomes-Pereira, Mário

Publication type:

Article

'Mitotic drive' of expanded CTG repeats in myotonic dystrophy type 1 (DM1).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 855, doi. 10.1093/hmg/10.8.855

By:

Khajavi, Mehrdad;
Tari, Ana M.;
Patel, Nalini B.;
Tsuji, Kuniko;
Siwak, Doris R.;
Meistrich, Marvin L.;
Terry, Nicholas H. A.;
Ashizawa, Tetsuo

Publication type:

Article