Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 3

Results: 14

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 205, doi. 10.1007/s004390000369

By:

Miura, Yuichi;
Hiura, Makoto;
Torigoe, Katsumi;
Numata, Osamu;
Kuwahara, Atsushi;
Matsunaga, Masamichi;
Hasegawa, Satoshi;
Boku, Naoki;
Ino, Haruyoshi;
Mardy, Sek;
Endo, Fumio;
Matsuda, Ichiro;
Indo, Yasuhiro

Publication type:

Article

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 216, doi. 10.1007/s004390000368

By:

Booms, P.;
Tiecke, F.;
Rosenberg, T.;
Hagemeier, C.;
Robinson, P. N.

Publication type:

Article

Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 210, doi. 10.1007/s004390000365

By:

Wen-Harn Pan;
Jaw-Wen Chen;
Fann, Cathy;
Yuh-Shan Jou;
Sheng-Yeu Wu

Publication type:

Article

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 243, doi. 10.1007/s004390000356

By:

Whatley, Sharon D.;
Roberts, Andrew G.;
Llewellyn, David H.;
Bennett, Christopher P.;
Garrett, Christine;
Elder, George H.

Publication type:

Article

Fusion of 9 beta-satellite and telomere (TTAGGG)<sup>n</sup> sequences results in a jumping translocation.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 268, doi. 10.1007/s004390000360

By:

Reddy, K. S.;
Murphy, T.

Publication type:

Article

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 234, doi. 10.1007/s004390000362

By:

Julide Tok Çelebi;
Wanner, Molly;
Xiao Li Ping;
Hong Zhang;
Peacocke, Monica

Publication type:

Article

The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.

Published in:

2000

By:

Spirio, Lisa;
Green, Jane;
Robertson, Jennifer;
Robertson, Margaret;
Otterud, Brith;
Sheldon, John;
Howse, Erica;
Green, Roger;
Groden, Joanna;
White, Ray;
Leppert, Mark

Publication type:

Erratum

Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 257, doi. 10.1007/s004390000367

By:

Razzaghi, H.;
Aston, C. E.;
Hamman, R. F.;
Kamboh, M. I.

Publication type:

Article

Anticipation in familial Hodgkin's lymphoma.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 290, doi. 10.1007/s004390000376

By:

Lynch, Henry T.

Publication type:

Article

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 276, doi. 10.1007/s004390000350

By:

Gerber, Sylvie;
Rozet, Jean-Michel;
Takezawa, Shin-Ichiro;
Coutinho dos Santos, Luisa;
Lopes, Lucilia;
Gribouval, Olivier;
Penet, Clotilde;
Perrault, Isabelle;
Ducroq, Dominique;
Souied, Eric;
Jeanpierre, Marc;
Romana, Serge;
Frézal, Jean;
Ferraz, Fernando;
Yu-Umesono, Ruth;
Munnich, Arnold;
Kaplan, Josseline

Publication type:

Article

Mutation analysis in glycogen storage disease type 1 non-a.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 285, doi. 10.1007/s004390000371

By:

Janecke, Andreas R.;
Lindner, Martin;
Erdel, Martin;
Mayatepek, Ertan;
Möslinger, Dorothea;
Podskarbi, Teodor;
Fresser, Friedrich;
Stöckler-Ipsiroglu, Silvia;
Hoffmann, Georg F.;
Utermann, Gerd

Publication type:

Article

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 249, doi. 10.1007/s004390000375

By:

Krämer, Franziska;
White, Karen;
Kubbies, Manfred;
Swisshelm, Karen;
Weber, Bernhard H. F.

Publication type:

Article

Association of ACE I/D polymorphism with cardiovascular risk factors.

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 239, doi. 10.1007/s004390000358

By:

Uemura, K.;
Nakura, J.;
Kohara, K.;
Miki, T.

Publication type:

Article

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).

Published in:

Human Genetics, 2000, v. 107, n. 3, p. 225, doi. 10.1007/s004390000357

By:

Tonelli, Roberto;
Scardovi, Anna Lisa;
Pession, Andrea;
Strippoli, Pierluigi;
Bonsi, Laura;
Vitale, Lorenza;
Prete, Arcangelo;
Locatelli, Franco;
Bagnara, Gian Paolo;
Paolucci, Guido

Publication type:

Article