Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 1

Results: 20

Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 23, doi. 10.1002/humu.10011

By:

Demura, Masashi;
Takeda, Yoshiyu;
Yoneda, Takashi;
Furukawa, Kenji;
Usukura, Mikiya;
Itoh, Yuji;
Mabuchi, Hiroshi

Publication type:

Article

On the changing meanings of 'mutation'.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 76, doi. 10.1002/humu.10021

By:

Marshall, Jeremy H.

Publication type:

Article

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 49, doi. 10.1002/humu.10018

By:

Feng, Jinong;
Drost, Joni B.;
Scaringe, William A.;
Liu, Qiang;
Sommer, Steve S.

Publication type:

Article

Maternal mosaicism for a second mutational event-a novel deletion-in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 83, doi. 10.1002/humu.9006

By:

Davidson, Sima;
Leshanski, Lucy;
Rennert, Gad;
Eidelman, Shmuel;
Amikam, Dorit

Publication type:

Article

Molecular analysis in newborns from Texas affected with galactosemia.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 82, doi. 10.1002/humu.9005

By:

Yang, Y.-P.;
Corley, N.;
Garcia-Heras, J.

Publication type:

Article

Human Mutation: The official journal of the Human Genome Variation Society (HGVS).

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 1, doi. 10.1002/humu.10037

By:

Cotton, Richard G.H.;
Kazazian, Haig H.

Publication type:

Article

Database for the mutations of the Finnish disease heritage.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 16, doi. 10.1002/humu.10019

By:

Sipilä, Kati;
Aula, Pertti

Publication type:

Article

BRCA2 gene mutations in Greek patients with familial breast cancer.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 81, doi. 10.1002/humu.9003

By:

Armakolas, Athanasios;
Ladopoulou, Angela;
Konstantopoulou, Irene;
Pararas, B.;
Gomatos, Ilias P.;
Kataki, Agapi;
Konstadoulakis, Manoussos M.;
Stathopoulos, George P.;
Markopoulos, Christopher;
Leandros, Emmanouil;
Gogas, Ioannis;
Yannoukakos, Drakoulis;
Androulakis, George

Publication type:

Article

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 84, doi. 10.1002/humu.9007

By:

Bogdanova, Nadja;
Lemcke, Beate;
Markoff, Arseni;
Pollmann, Hartmut;
Dworniczak, Bernd;
Eigel, Antonin;
Horst, Jürgen

Publication type:

Article

Mutation rate of MAP2K4/MKK4 in breast carcinoma.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 81, doi. 10.1002/humu.9002

By:

Su, Gloria H.;
Song, Jason J.;
Repasky, Elizabeth A.;
Schutte, Mieke;
Kern, Scott E.

Publication type:

Article

Communicating 'mutation:' Modern meanings and connotations.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 2, doi. 10.1002/humu.10029

By:

Cotton, Richard G.H.

Publication type:

Article

Improved detection of CFTR mutations in southern California Hispanic CF patients.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 79, doi. 10.1002/humu.10030

By:

Wong, Lee-Jun C.;
Wang, Jianjun;
Zhang, Ying-Hua;
Hsu, Evelyn;
Heim, Ruth A.;
Bowman, C. Michael;
Woo, Marlyn S.

Publication type:

Article

Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 58, doi. 10.1002/humu.10013

By:

Mátyás, Gábor;
Giunta, Cecilia;
Steinmann, Beat;
Hossle, Johann Peter;
Hellwig, Robert

Publication type:

Article

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 39, doi. 10.1002/humu.10017

By:

Gupta, Prateek A.;
Putnam, Elizabeth A.;
Carmical, Sonya G.;
Kaitila, Ilkka;
Steinmann, Beat;
Child, Anne;
Danesino, Cesare;
Metcalfe, Kay;
Berry, Susan A.;
Chen, Emily;
Delorme, Catherine Vincent;
Thong, Meow-Keong;
Adès, Lesley C.;
Milewicz, Dianna M.

Publication type:

Article

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene ( PAFAH1B1).

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 4, doi. 10.1002/humu.10028

By:

Cardoso, Carlos;
Leventer, Richard J.;
Dowling, James J.;
Ward, Heather L.;
Chung, June;
Petras, Kristin S.;
Roseberry, Jessica A.;
Weiss, Ann M.;
Das, Soma;
Martin, Christa Lese;
Pilz, Daniela T.;
Dobyns, William B.;
Ledbetter, David H.

Publication type:

Article

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 80, doi. 10.1002/humu.9001

By:

Elpeleg, Orly N.;
Shaag, Avraham;
Holme, Elizabeth;
Zughayar, Ghaleb;
Ronen, Suzi;
Fisher, Drora;
Hurvitz, Haggit

Publication type:

Article

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 30, doi. 10.1002/humu.10016

By:

Bauer, Peter;
Knoblich, Rupert;
Bauer, Claudia;
Finckh, Ulrich;
Hufen, Antje;
Kropp, Julia;
Braun, Silja;
Kustermann-Kuhn, Birgit;
Schmidt, Dörthe;
Harzer, Klaus;
Rolfs, Arndt

Publication type:

Article

The changing meanings of 'mutation:' A contextualized study of public discourse.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 69, doi. 10.1002/humu.10023

By:

Condit, Celeste M.;
Achter, Paul J.;
Lauer, Ilon;
Sefcovic, Enid

Publication type:

Article

Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 82, doi. 10.1002/humu.9004

By:

Krüger, Stefan;
Plaschke, Jens;
Pistorius, Steffen;
Jeske, Birgit;
Haas, Stephan;
Krämer, Heike;
Hinterseher, Irene;
Bier, Andrea;
Kreuz, Friedmar R.;
Theissig, Franz;
Saeger, Hans D.;
Schackert, Hans K.

Publication type:

Article

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 80, doi. 10.1002/humu.9000

By:

Kuhrová, Viera;
Francová, Hana;
Zapletalová, Petra;
Freiberger, Tomáš;
Fajkusová, Lenka;
Hrabincová, Eva;
Slováková, Romana;
Kozák, Libor

Publication type:

Article