Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 1

Results: 17

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9046

By:

Resta, N.;
Stella, A.;
Susca, F.C.;
Di Giacomo, M.;
Forleo, G.;
Miccolis, I.;
Rossini, F.P.;
Genuardi, M.;
Piepoli, A.;
Grammatico, P.;
Guanti, G.

Publication type:

Article

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9039

By:

Origone, Paola;
De Luca, Alessandro;
Bellini, Carlo;
Buccino, Anna;
Mingarelli, Rita;
Costabel, Simona;
La Rosa, Carmen;
Garrè, Cecilia;
Coviello, Domenico A.;
Ajmar, Franco;
Dallapiccola, Bruno;
Bonioli, Eugenio

Publication type:

Article

Familial conformational diseases and dementias.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 1, doi. 10.1002/humu.10100

By:

Crowther, Damian C.

Publication type:

Article

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 35, doi. 10.1002/humu.10092

By:

Wautot, Virginie;
Vercherat, Cécile;
Lespinasse, James;
Chambe, Béatrice;
Lenoir, Gilbert M.;
Zhang, Chang X.;
Porchet, Nicole;
Cordier, Martine;
Béroud, Christophe;
Calender, Alain

Publication type:

Article

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 15, doi. 10.1002/humu.10096

By:

Van Camp, Guy;
Coucke, Paul J.;
Akita, Jiro;
Fransen, Erik;
Abe, Satoko;
De Leenheer, Els M.R.;
Huygen, Patrick L.M.;
Cremers, Cor W.R.J.;
Usami, Shin-Ichi

Publication type:

Article

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 Gene.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 75, doi. 10.1002/humu.9041

By:

Gutierrez-Roelens, Ilse;
Sluysmans, Thierry;
Gewillig, Marc;
Devriendt, Koen;
Vikkula, Miikka

Publication type:

Article

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9045

By:

Syrén, Marie-Louise;
Tedeschi, Silvana;
Cesareo, Laila;
Bellantuono, Rosa;
Colussi, Giacomo;
Procaccio, Mirella;
Alì, Anna;
Domenici, Raffaele;
Malberti, Fabio;
Sprocati, Monica;
Sacco, Michele;
Miglietti, Nunzia;
Edefonti, Alberto;
Sereni, Fabio;
Casari, Giorgio;
Coviello, Domenico A.;
Bettinelli, Alberto

Publication type:

Article

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9038

By:

Johnson, Jean L.;
Coyne, Katharine E.;
Garrett, Robert M.;
Zabot, Marie-Therese;
Dorche, Claude;
Kisker, Caroline;
Rajagopalan, K. V.

Publication type:

Article

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 75, doi. 10.1002/humu.9040

By:

Zhang, Y.;
Hart, P.S.;
Moretti, A.J.;
Bouwsma, O.J.;
Fisher, E.M.;
Dudlicek, L.;
Pettenati, M.J.;
Hart, T.C.

Publication type:

Article

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 77, doi. 10.1002/humu.9044

By:

Kupka, Susan;
Braun, Simone;
Aberle, Susanne;
Haack, Birgit;
Ebauer, Margret;
Zeißler, Ulrike;
Zenner, Hans-Peter;
Blin, Nikolaus;
Pfister, Markus

Publication type:

Article

BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 28, doi. 10.1002/humu.10090

By:

Yazici, Hulya;
Glendon, Gordon;
Yazici, Hilal;
Burnie, Steve J.;
Saip, Pánar;
Buyru, Faruk;
Bengisu, Ergin;
Andrulis, Irene L.;
Dalay, Nejat;
Ozcelik, Hilmi

Publication type:

Article

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 20, doi. 10.1002/humu.10083

By:

Bisgaard, Marie Luise;
Jäger, Anne Charlotte;
Myrhøj, Torben;
Bernstein, Inge;
Nielsen, Finn Cilius

Publication type:

Article

Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 57, doi. 10.1002/humu.10094

By:

Werner, Monika;
Sych, Michael;
Herbon, Nicole;
Illig, Thomas;
König, Inke R.;
Wjst, Matthias

Publication type:

Article

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 77, doi. 10.1002/humu.9043

By:

López-Bigas, N.;
Melchionda, S.;
de Cid, R.;
Grifa, A.;
Zelante, L.;
Govea, N.;
Arbonés, M.L.;
Gasparini, P.;
Estivill, X.

Publication type:

Article

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 48, doi. 10.1002/humu.10093

By:

Carbone, Mary Anna;
Applegarth, Derek A.;
Robinson, Brian H.

Publication type:

Article

Comparison of DNA- and RNA-Based Methods for Detection of Truncating BRCA1 Mutations.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 65, doi. 10.1002/humu.10097

By:

Andrulis, Irene L.;
Anton-Culver, Hoda;
Beck, Jeanne;
Bove, Betsy;
Boyd, Jeff;
Buys, Saundra;
Godwin, Andrew K.;
Hopper, John L.;
Li, Frederick;
Neuhausen, Susan L.;
Ozcelik, Hilmi;
Peel, David;
Santella, Regina M.;
Southey, Melissa C.;
van Orsouw, Nathalie J.;
Venter, Deon J.;
Vijg, Jan;
Whittemore, Alice S.

Publication type:

Article

Mutations in Myosin VIIA ( MYO7A) and Usherin ( USH2A) in Spanish patients with usher syndrome types I and II, respectively.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 76, doi. 10.1002/humu.9042

By:

Nájera, Carmen;
Beneyto, Magdalena;
Blanca, José;
Aller, Elena;
Fontcuberta, Ana;
Millán, José María;
Ayuso, Carmen

Publication type:

Article