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