Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 6

Results: 20

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 520, doi. 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K

By:

López-Bigas, Núria;
Rabionet, Raquel;
de Cid, Rafael;
Govea, Nancy;
Gasparini, Paolo;
Zelante, Leopoldo;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 542, doi. 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0

By:

Okubo, Minoru;
Kanda, Fumio;
Horinishi, Asako;
Takahashi, Keiichi;
Okuda, Shiho;
Chihara, Kazuo;
Murase, Toshio

Publication type:

Article

Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 545, doi. 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU19>3.0.CO;2-G

By:

Dangel, Joellen;
Wagner-Costalas, Josephine;
Bove, Betsy;
Vanderveer, Lisa;
Itzen, Mark;
Daly, Mary;
Godwin, Andrew K.

Publication type:

Article

Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 451, doi. 10.1002/(SICI)1098-1004(199912)14:6<451::AID-HUMU1>3.0.CO;2-N

By:

Dianzani, Irma;
Landegren, Ulf;
Camaschella, Clara;
Ponzone, Alberto;
Piazza, Alberto;
Cotton, Richard G.H.

Publication type:

Article

Novel type of genetic rearrangement in the iduronate-2-sulfatase ( IDS) gene involving deletion, duplications, and inversions.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 471, doi. 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5

By:

Karsten, Stanislav;
Voskoboeva, Elena;
Krasnopolskaja, Xcenia;
Bondeson, Marie-Louise

Publication type:

Article

Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 502, doi. 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C

By:

Tredano, Mohammed;
van Elburg, Ruurd M.;
Kaspers, Ageeth G.;
Zimmermann, Luc J.;
Houdayer, Claude;
Aymard, Pierre;
Hull, William M.;
Whitsett, Jeffrey A.;
Elion, Jacques;
Griese, Matthias;
Bahuau, Michel

Publication type:

Article

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 510, doi. 10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O

By:

Lázaro, Conxi;
de Cid, Rafael;
Sunyer, Jordi;
Soriano, Joan;
Giménez, Javier;
Álvarez, Mónica;
Casals, Teresa;
Antó, Josep M.;
Estivill, Xavier

Publication type:

Article

Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 542, doi. 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3

By:

Tsai, Chang-Hai;
Tsai, Fuu-Jen;
Wu, Jer-Yuarn;
Lin, Shuan-Pei;
Chang, Jang-Gowth;
Yang, Chi-Fan;
Lee, Cheng-Chun

Publication type:

Article

A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 545, doi. 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU18>3.0.CO;2-J

By:

Aguilera, Isabel;
García-Lozano, José-raúl;
Bautista, Juan;
Campos, Y.;
Arenas, J.;
Núñez-Roldán, Antonio

Publication type:

Article

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 466, doi. 10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6

By:

Kohsaka, Takao;
Tagawa, Manabu;
Takekoshi, Yasuro;
Yanagisawa, Hiroko;
Tadokoro, Keiko;
Yamada, Masao

Publication type:

Article

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 493, doi. 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P

By:

Talebizadeh, Zohreh;
Kelley, Philip M.;
Askew, James W.;
Beisel, Kirk W.;
Smith, Shelley D.

Publication type:

Article

The homozygous combination of Leu125Val and Ser563Asn polymorphisms in the PECAM1 (CD31) gene is associated with early severe coronary heart disease.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 545, doi. 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU20>3.0.CO;2-5

By:

Wenzel, Katrin;
Baumann, Gert;
Felix, Stefan B.

Publication type:

Article

Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 540, doi. 10.1002/(SICI)1098-1004(199912)14:6<540::AID-HUMU13>3.0.CO;2-C

By:

Ozcelik, Hilmi;
Nedelcu, Raluca;
Chan, Vivian W.Y.;
Shi, Xiu-Hong;
Murphy, Joan;
Rosen, Barry;
Andrulis, Irene L.

Publication type:

Article

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 543, doi. 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S

By:

Vuillaumier-Barrot, Sandrine;
Barnier, Anne;
Cuer, Maryvonne;
Durand, Geneviève;
Grandchamp, Bernard;
Seta, Nathalie

Publication type:

Article

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 459, doi. 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9

By:

Clough, Mark V.;
Hamlington, Jeanette D.;
McIntosh, Iain

Publication type:

Article

High incidence of cancer in a family segregating a mutation of the ATM gene: Possible role of ATM heterozygosity in cancer.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 485, doi. 10.1002/(SICI)1098-1004(199912)14:6<485::AID-HUMU7>3.0.CO;2-T

By:

Bay, Jacques-Olivier;
Uhrhammer, Nancy;
Pernin, David;
Presneau, Nadège;
Tchirkov, Andrei;
Vuillaume, Michèle;
Laplace, Valérie;
Grancho, Maria;
Verrelle, Pierre;
Hall, Janet;
Bignon, Yves-Jean

Publication type:

Article

Analysis of exon 1 mutations in the androgen receptor gene.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 527, doi. 10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X

By:

Gottlieb, Bruce;
Vasiliou, Denise M.;
Lumbroso, Rose;
Beitel, Lenore K.;
Pinsky, Leonard;
Trifiro, Mark A.

Publication type:

Article

Cystic fibrosis mutations in Israeli Arab patients.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 543, doi. 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU16>3.0.CO;2-V

By:

Laufer-Cahana, Ayala;
Lerer, Israela;
Sagi, Michal;
Rachmilewitz-Minei, Tamar;
Zamir, Chen;
Rivlin, Jacob R.;
Abeliovich, Dvorah

Publication type:

Article

CTNS mutations in patients with cystinosis.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 454, doi. 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H

By:

Anikster, Yair;
Shotelersuk, Vorasuk;
Gahl, William A.

Publication type:

Article

Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 477, doi. 10.1002/(SICI)1098-1004(199912)14:6<477::AID-HUMU6>3.0.CO;2-X

By:

Jablonska-Skwiecinska, Ewa;
Lewandowska, Irmina;
Plochocka, Danuta;
Topczewski, Jacek;
Zimowski, Janusz G.;
Klopocka, Jolanta;
Burzynska, Beata

Publication type:

Article