Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 4

Results: 21

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU14>3.0.CO;2-Y

By:

Wang, Q;
Verhoef, S;
Tempelaars, AMP;
Bakker, PLG;
Vrtel, R;
Hesseling-Janssen,, ALW;
Nellist, M;
Oranje, AP;
Stroink, H;
Lindhout, D;
Halley, DJJ;
van den Ouweland, AMW

Publication type:

Article

Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.0.CO;2-D

By:

Wu, Shao-Ming;
Jose, Maria;
Hallermeier, Karen;
Rennert, Owen M.;
Chan, Wai-Yee

Publication type:

Article

Seven novel mutations in mut methylmalonic aciduria.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 270, doi. 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T

By:

Adjalla, Charles E.;
Hosack, Angela R.;
Gilfix, Brian M.;
Lamothe, Estelle;
Sun, Sophie;
Chan, Adrian;
Evans, Stacey;
Matiaszuk, Nora V.;
Rosenblatt, David S.

Publication type:

Article

Independent occurrence of the novel Arg<sup>2163</sup> to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X

By:

Theophilus, Bimal D. M.;
Enayat, Mohammad S.;
Higuchi, Miyoko;
Kazazian, Haig H.;
Antonarakis, Stylianos E.;
Hill, Frank G. H.

Publication type:

Article

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B

By:

Gallione, Carol J.;
Klaus, Daniel J.;
Yeh, Eric Y.;
Stenzel, Timothy T.;
Xue, Yan;
Anthony, Kara B.;
McAllister, Kimberly A.;
Baldwin, Melanie A.;
Berg, Jonathan N.;
Lux, Andreas;
Smith, Joshua D.;
Vary, Calvin P. H.;
Craigen, William J.;
Westermann, CJJ;
Warner, Mary L.;
Miller, York E.;
Jackson, C. Eugene;
Guttmacher, Alan E.;
Marchuk, Douglas A.

Publication type:

Article

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6

By:

Cormand, Bru;
Grinberg, Daniel;
Gort, Laura;
Chabás, Amparo;
Vilageliu, Lluïsa

Publication type:

Article

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 321, doi. 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A

By:

Höglund, Pia;
Haila, Siru;
Gustavson, Karl-Henrik;
Taipale, Mikko;
Hannula, Katariina;
Popinska, Kataryna;
Holmberg, Christer;
Socha, Jerzy;
de la Chapelle, Albert;
Kere, Juha

Publication type:

Article

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0

By:

Sangiuolo, F;
Botta, A;
Mesoraca, A;
Servidei, S;
Merlini, L;
Fratta, G;
Novelli, G;
Dallapiccola, B

Publication type:

Article

Detection of four novel mutations in the iduronate-2-sulfatase gene.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G

By:

Balzano, Nicola;
Villani, Guglielmo R. D.;
Grosso, Michela;
Izzo, Paola;
Natale, Paola Di

Publication type:

Article

Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1<sub>Burin</sub>) in four kindreds from Newfoundland.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 264, doi. 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

By:

Olufemi, Shodimu-Emmanuel;
Green, Jane S.;
Manickam, Pachiappan;
Guru, Siradanahalli C.;
Agarwal, Sunita K.;
Kester, Mary Beth;
Dong, Qihan;
Burns, A. Lee;
Spiegel, Allen M.;
Marx, Stephen J.;
Collins, Francis S.;
Chandrasekharappa, Settara C.

Publication type:

Article

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J

By:

Grigelioniené, G;
Hagenäs, L;
Eklöf, O;
Neumeyer, L;
Haereid, PE;
Anvret, M

Publication type:

Article

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#

By:

Donnelly, Andrew;
Haan, Eric;
Manson, James;
Mulley, John

Publication type:

Article

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 279, doi. 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E

By:

Corden, Laura D.;
Mellerio, Jemima E.;
Gratian, Matthew J.;
Eady, Robin A. J.;
Harper, John I.;
Lacour, Marc;
Magee, Gareth;
Lane, E. Birgitte;
McGrath, John A.;
McLean, W. H. Irwin

Publication type:

Article

In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)11:4<259::AID-HUMU1>3.0.CO;2-W

By:

Blakley, Raymond L.;
Sorrentino, Brian P.

Publication type:

Article

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3

By:

Katsumata, Noriyuki;
Tanae, Ayako;
Shinagawa, Takashi;
Nagashima-Miyokawa, Atsuko;
Shimizu, Mayumi;
Yasunaga, Toru;
Tanaka, Toshiaki;
Hibi, Itsuro

Publication type:

Article

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 313, doi. 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P

By:

Di Natale, Paola;
Balzano, Nicola;
Esposito, Sabrina;
Villani, Guglielmo R. D.

Publication type:

Article

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P

By:

Gort, Laura;
Chabás, Amparo;
Coll, M. Josep

Publication type:

Article

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L

By:

Kim, Eun Kyung;
Yoo, Ook Joon;
Song, Kyu Young;
Yoo, Han Wook;
Choi, Sang Yong;
Cho, Sung Won;
Hahn, Si Houn

Publication type:

Article

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 306, doi. 10.1002/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S

By:

Shieh, Jeng-Jer;
Lin, Ching-Yuang

Publication type:

Article

Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 328, doi. 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N

By:

Chen, Chia-Hsiang;
Shyu, Pei-Wen;
Wu, Su-Jen;
Sheu, Song-Shan;
Desnick, Robert J.;
Hsiao, Kwang-Jen

Publication type:

Article

Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU15>3.0.CO;2-S

By:

Gordon, Ross B.;
Cox, Anthony J.;
Dawson, Paul A.;
Emmerson, Bryan T.;
Kraus, Jan P.;
Dudman, Nicholas P. B.

Publication type:

Article