Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 5

Results: 14

Genetic case-control association studies – correcting for multiple testing.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 564, doi. 10.1007/s00439-001-0611-4

By:

Nyholt, Dale R.

Publication type:

Article

Insulator: from chromatin domain boundary to gene regulation.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 471, doi. 10.1007/s004390100601

By:

Hui-Chun Zhan;
De-Pei Liu;
Chih-Chuan Liang

Publication type:

Article

A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 559, doi. 10.1007/s00439-001-0612-3

By:

Sakamoto, Osamu;
Ohura, Toshihiro;
Katsushima, Yuriko;
Fujiwara, Ikuma;
Ogawa, Eishin;
Miyabayashi, Shigeaki;
Iinuma, Kazuie

Publication type:

Article

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 503, doi. 10.1007/s004390100606

By:

Beesley, Clare E.;
Meaney, Cathy A.;
Greenland, Gavin;
Adams, Vanessa;
Vellodi, Ashok;
Young, Elisabeth P.;
Winchester, Bryan G.

Publication type:

Article

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 498, doi. 10.1007/s004390100600

By:

Thiselton, Dawn L.;
Alexander, Christiane;
Morris, Alex;
Brooks, Simon;
Rosenberg, Thomas;
Eiberg, Hans;
Kjer, Birgit;
Kjer, Poul;
Bhattacharya, Shomi S.;
Votruba, Marcela

Publication type:

Article

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 512, doi. 10.1007/s00439-001-0608-z

By:

Urbán, Zsolt;
Jun Zhang;
Davis, Elaine C.;
Maeda, Gregg K.;
Kumar, Anil;
Stalker, Heather;
Belmont, John W.;
Boyd, Charles D.;
Wallace, Margaret R.

Publication type:

Article

Correcting for multiple testing in genetic association studies: the legend lives on.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 566, doi. 10.1007/s00439-001-0616-z

By:

Krawczak, Michael;
Boehringer, Stefan;
Epplen, Jörg T.

Publication type:

Article

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 551, doi. 10.1007/s00439-001-0609-y

By:

Grigelioniene, Giedre;
Schoumans, Jacqueline;
Neumeyer, Lo;
Ivarsson, Sten Anders;
Eklöf, Ole;
Enkvist, Ove;
Tordai, Paul;
Fosdal, Inger;
Myhre, Anne Grethe;
Westphal, Otto;
Nilsson, Nils Östen;
Elfving, Maria;
Ellis, Ian;
Anderlid, Britt-Marie;
Fransson, Ingegerd;
Tapia-Paez, Isabel;
Nordenskjöld, Magnus;
Hagenäs, Lars;
Dumanski, Jan P.

Publication type:

Article

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604

By:

Liburd, Nikki;
Ghosh, Manju;
Riazuddin, Saima;
Naz, Sadaf;
Khan, Shaheen;
Ahmed, Zubair;
Riazuddin, Sheikh;
Yong Liang;
Menon, Puthezhath S. N.;
Smith, Tenesha;
Smith, Ann C. M.;
Ken-Shiung Chen;
Lupski, James R.;
Wilcox, Edward R.;
Potocki, Lorraine;
Friedman, Thomas B.

Publication type:

Article

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 487, doi. 10.1007/s004390100594

By:

Song Han;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 542, doi. 10.1007/s00439-001-0610-5

By:

Hammarsund, Marianne;
Wilson, William;
Corcoran, Martin;
Merup, Mats;
Einhorn, Stefan;
Grandér, Dan;
Sangfelt, Olle

Publication type:

Article

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 526, doi. 10.1007/s004390100603

By:

Xue Yang;
Aoki, Yoko;
Xue Li;
Sakamoto, Osamu;
Hiratsuka, Masahiro;
Kure, Shigeo;
Taheri, Sepidh;
Christensen, Ernst;
Inui, Koji;
Kubota, Mitsuru;
Ohira, Miki;
Ohki, Misao;
Kudoh, Jun;
Kawasaki, Kazuhiko;
Shibuya, Kazunori;
Shintani, Ai;
Asakawa, Shuichi;
Minoshima, Shinsei;
Shimizu, Nobuyoshi;
Narisawa, Kuniaki

Publication type:

Article

Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 521, doi. 10.1007/s004390100602

By:

Kokaze, Akatsuki;
Ishikawa, Mamoru;
Matsunaga, Naomi;
Yoshida, Masao;
Sekine, Yasuko;
Teruya, Koji;
Takeda, Nobuo;
Sumiya, Yu;
Uchida, Yoshiko;
Takashima, Yutaka

Publication type:

Article

Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 479, doi. 10.1007/s004390100605

By:

Dörr, Sylvia;
Schlicker, Mike;
Hansmann, Ingo

Publication type:

Article