Works matching IS 03406717 AND DT 2002 AND VI 110 AND IP 1

Results: 17

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 52, doi. 10.1007/s00439-001-0645-7

By:

Aung, Tin;
Ocaka, Louise;
Ebenezer, Neil D.;
Morris, Alex G.;
Krawczak, Michael;
Thiselton, Dawn L.;
Alexander, Christiane;
Votruba, Marcela;
Brice, Glen;
Child, Anne H.;
Francis, Peter J.;
Hitchings, Roger A.;
Lehmann, Ordan J.;
Bhattacharya, Shomi S.

Publication type:

Article

Critique of "Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension"

Published in:: Human Genetics, 2002, v. 110, n. 1, p. 98, doi. 10.1007/s00439-001-0641-y
Publication type:: Article

Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 75, doi. 10.1007/s00439-001-0649-3

By:

Honda, Hiroshi;
Miharu, Norio;
Ohashi, Yoko;
Samura, Osamu;
Kinutani, Masayuki;
Hara, Tetsuaki;
Ohama, Koso

Publication type:

Article

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 36, doi. 10.1007/s00439-001-0642-x

By:

Juvonen, Vesa;
Kulmala, Satu-Maria;
Ignatius, Jaakko;
Penttinen, Maila;
Savontaus, Marja-Liisa

Publication type:

Article

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 8, doi. 10.1007/s00439-001-0650-x

By:

Brodaty, Henry;
Mitchell, Philip;
Luscombe, Georgina;
Kwok, John B.;
Badenhop, Renee F.;
McKenzie, Rod;
Schofield, Peter R.

Publication type:

Article

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 68, doi. 10.1007/s00439-001-0648-4

By:

Luka, Zigmund;
Cerone, Roberto;
Phillips, John A.;
Mudd, Harvey S.;
Wagner, Conrad

Publication type:

Article

Rate of homologous chromosome bivalents in spermatocytes may predict completion of spermatogenesis in azoospermic men.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 30, doi. 10.1007/s00439-001-0635-9

By:

Yogev, Leah;
Gamzu, Ronni;
Paz, Gedalia;
Kleiman, Sandra;
Botchan, Amnon;
Hauser, Ron;
Yavetz, Haim

Publication type:

Article

The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 95, doi. 10.1007/s00439-001-0653-7

By:

Savas, Sevtap;
Frischhertz, Ben;
Pelias, Mary Z.;
Batzer, Mark A.;
Deininger, Prescott L.;
Keats, Bronya J.

Publication type:

Article

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9

By:

Selicorni, Angelo;
Guerneri, Silvana;
Ratti, Antonia;
Pizzuti, Antonio

Publication type:

Article

Authors response to: Critique of "Chromosome 17 and inducible nitric oxide synthase gene in human essential hypertension" by Rutherford et al. in Human Genetics published on-line September 2001.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 100, doi. 10.1007/s00439-001-0658-2

By:

Griffiths, Lyn R.

Publication type:

Article

Investigation of the functional effect of monoamine oxidase polymorphisms in human brain.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 1, doi. 10.1007/s00439-001-0652-8

By:

Balciuniene, J.;
Emilsson, L.;
Oreland, L.;
Pettersson, U.;
Jazin, E.

Publication type:

Article

Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 89, doi. 10.1007/s00439-001-0654-6

By:

Ito, Teruhiko;
Yasue, Hirofumi;
Yoshimura, Michihiro;
Nakamura, Shota;
Nakayama, Masafumi;
Shimasaki, Yukio;
Harada, Eisaku;
Mizuno, Yuji;
Kawano, Hiroaki;
Ogawa, Hisao

Publication type:

Article

Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 80, doi. 10.1007/s00439-001-0651-9

By:

Tajima, Atsushi;
Pan, I-Hung;
Fucharoen, Goonnapa;
Fucharoen, Supan;
Matsuo, Masafumi;
Tokunaga, Katsushi;
Juji, Takeo;
Hayami, Masanori;
Omoto, Keiichi;
Horai, Satoshi

Publication type:

Article

Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 57, doi. 10.1007/s00439-001-0640-z

By:

Hsu, Lung-An;
Ko, Yu-Lin;
Hsu, Kuang-Hung;
Ko, Yu-Hsien;
Lee, Ying-Shiung

Publication type:

Article

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 41, doi. 10.1007/s00439-001-0630-1

By:

Nakano, Aoi;
Chao, Sheau-Chiou;
Pulkkinen, Leena;
Murrell, Dedee;
Bruckner-Tuderman, Leena;
Pfendner, Ellen;
Uitto, Jouni

Publication type:

Article

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 21, doi. 10.1007/s00439-001-0638-6

By:

Santer, René;
Groth, Sebastian;
Kinner, Martina;
Dombrowski, Anja;
Berry, Gerard T.;
Brodehl, Johannes;
Leonard, James V.;
Moses, Shimon;
Norgren, Svante;
Skovby, Flemming;
Schneppenheim, Reinhard;
Steinmann, Beat;
Schaub, Jürgen

Publication type:

Article

Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 15, doi. 10.1007/s00439-001-0639-5

By:

Scapoli, Luca;
Martinelli, Marcella;
Pezzetti, Furio;
Carinci, Francesco;
Bodo, Maria;
Tognon, Mauro;
Carinci, Paolo

Publication type:

Article