Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 6

Results: 14

CSR, a scavenger receptor-like protein with a protective role against cellular damage causedby UV irradiation and oxidative stress.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1039, doi. 10.1093/hmg/7.6.1039

By:

Han, Hye‐Jung;
Tokino, Takashi;
Nakamura, Yusuke

Publication type:

Article

The variable expressivity and incomplete penetrance of the twist -null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 945, doi. 10.1093/hmg/7.6.945

By:

Bourgeois, Patrice;
Bolcato‐Bellemin, Anne‐Laure;
Danse, Jean‐Marc;
Bloch‐Zupan, Agnes;
Yoshiba, Kunihiko;
Stoetzel, Corinne;
Perrin‐Schmitt, Fabienne

Publication type:

Article

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1011, doi. 10.1093/hmg/7.6.1011

By:

Robinson, W. P.;
Kuchinka, B. D.;
Bernasconi, F.;
Petersen, M. B.;
Schulze, A.;
Brøndum‐Nielsen, K.;
Christian, S. L.;
Ledbetter, D. H.;
Schinzel, A. A.;
Horsthemke, B.;
Schuffenhauer, S.;
Michaelis, R. C.;
Langlois, S.;
Hassold, T. J.

Publication type:

Article

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1033, doi. 10.1093/hmg/7.6.1033

By:

Johnson, Kenneth R.;
Sweet, Hope O.;
Donahue, Leah Rae;
Ward‐Bailey, Pat;
Bronson, Roderick T.;
Davisson, Muriel T.

Publication type:

Article

Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 969, doi. 10.1093/hmg/7.6.969

By:

Matsumura, Yasuhiro;
Nishigori, Chikako;
Yagi, Takashi;
Imamura, Sadao;
Takebe, Hiraku

Publication type:

Article

Mutation detection by a two-hybrid assay.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1029, doi. 10.1093/hmg/7.6.1029

By:

Schwartz, Hillel;
Alvares, Christopher P.;
White, Marga B.;
Fields, Stanley

Publication type:

Article

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1021, doi. 10.1093/hmg/7.6.1021

By:

Tassabehji, Mayada;
Metcalfe, Kay;
Hurst, Jane;
Ashcroft, Gillian S.;
Kielty, Cay;
Wilmot, Carrie;
Donnai, Dian;
Read, Andrew P.;
Jones, Carolyn J. P.

Publication type:

Article

Ataxin-3 is transported into the nucleus and associates with the nuclear matrix.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 991, doi. 10.1093/hmg/7.6.991

By:

Tait, Danilo;
Riccio, Massimo;
Sittler, Annie;
Scherzinger, Eberhard;
Santi, Spartaco;
Ognibene, Andrea;
Maraldi, Nadir Mario;
Lehrach, Hans;
Wanker, Erich E.

Publication type:

Article

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 999, doi. 10.1093/hmg/7.6.999

By:

Fransen, Erik;
D, Rudi;
Van Camp, Guy;
Verhoye, Marleen;
Sijbers, Jan;
Reyniers, Edwin;
Soriano, Philippe;
Kamiguchi, Hiroyuki;
Willemsen, Rob;
Koekkoek, Sebastiaan K. E.;
De Zeeuw, Chris I.;
De Deyn, Peter P.;
Van der Linden, Annemie;
Lemmon, Vance;
Kooy, R. Frank;
Willems, Patrick J.

Publication type:

Article

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 981, doi. 10.1093/hmg/7.6.981

By:

Lamandé, Shireen R.;
Bateman, John F.;
Hutchison, Wendy;
McKinlay Gardner, R. J.;
Bower, Simon P.;
Byrne, Edward;
Dahl, Hans‐Henrik M.

Publication type:

Article

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 959, doi. 10.1093/hmg/7.6.959

By:

La Spada, A. R.;
Peterson, K. R.;
Meadows, S. A.;
McClain, M. E.;
Jeng, G.;
Chmelar, R. S.;
Haugen, H. A.;
Chen, K.;
Singer, M. J.;
Moore, D.;
Trask, B. J.;
Fischbeck, K. H.;
Clegg, C. H.;
McKnight, G. S.

Publication type:

Article

Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 975, doi. 10.1093/hmg/7.6.975

By:

Schwalbe, Ruth A.;
Bianchi, Laura;
Accili, Eric A.;
Brown, Arthur M.

Publication type:

Article

A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1047, doi. 10.1093/hmg/7.6.1047

By:

Yang, G. C.;
Croaker, D.;
Zhang, A. L.;
Manglick, P.;
Cartmill, T.;
Cass, D.

Publication type:

Article

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1053, doi. 10.1093/hmg/7.6.1053

By:

van Slegtenhorst, Marjon;
Nellist, Mark;
Nagelkerken, Bas;
Cheadle, Jeremy;
Snell, Russell;
van den Ouweland, Ans;
Reuser, Arnold;
Sampson, Julian;
Halley, Dicky;
van der Sluijs, Peter

Publication type:

Article