Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 3

Results: 21

A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B

By:

Castaldo, Giuseppe;
Fuccio, Antonella;
Cazeneuve, Cécile;
Picci, Luigi;
Salvatore, Donatello;
Scarpa, Maurizio;
Goossens, Michel;
Salvatore, Francesco

Publication type:

Article

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

By:

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

Publication type:

Article

Identification of the new polymorphism IVS1-91 C→T in the beta globin gene.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU19>3.0.CO;2-8

By:

Primignani, Paola;
Travi, Maurizio;
Biasi, Anita;
Sbrocca, Federica;
Piga, Antonio;
Scagni, Paola;
Cantù Rajnoldi, Angelo

Publication type:

Article

Molecular basis of late-life globoid cell leukodystrophy.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6

By:

De Gasperi, Rita;
Gama Sosa, Miguel A.;
Sartorato, Edi;
Battistini, Stefania;
Raghavan, Srinivasa;
Kolodny, Edwin H.

Publication type:

Article

Protein misfolding and degradation in genetic diseases.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J

By:

Bross, Peter;
Corydon, Thomas J.;
Andresen, Brage S.;
Jørgensen, Malene M.;
Bolund, Lars;
Gregersen, Niels

Publication type:

Article

Deep intronic mutations are rarely a cause of hemophilia B.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 267, doi. 10.1002/(SICI)1098-1004(1999)14:3<267::AID-HUMU11>3.0.CO;2-I

By:

Feng, Jinong;
Liu, Qiang;
Drost, Joni;
Sommer, Steve S.

Publication type:

Article

Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 233, doi. 10.1002/(SICI)1098-1004(1999)14:3<233::AID-HUMU6>3.0.CO;2-O

By:

Rocha, Juliane L.;
Friedman, Eitan;
Boson, Wolfanga;
Moreira, Ayrton;
Figueiredo, Bonald;
Liberman, Bernardo;
de Lacerda, Luiz;
Sandrini, Romulo;
Graf, Hans;
Martins, Sonia;
Puñales, Marcia K.;
De Marco, Luiz

Publication type:

Article

Mutation profile in the β-myosin heavy chain gene in hypertensive hypertrophic heart disease.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU20>3.0.CO;2-Y

By:

Clifford, C.P.;
Nunez, D.J.R.

Publication type:

Article

TP53 mutation and haplotype analysis of two large African American families.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X

By:

Hung, Jaclyn;
Mims, Betsy;
Lozano, Guillermina;
Strong, Louise;
Harvey, Carolyn;
Chen, Tina T.-Y.;
Stastny, Victor;
Tomlinson, Gail

Publication type:

Article

Novel genetic polymorphisms in DNA repair genes: O6-methylguanine-DNA methyltransferase ( MGMT) and N-methylpurine-DNA glycosylase ( MPG) in lung cancer patients from Poland.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU13>3.0.CO;2-6

By:

Rusin, Marek;
Samojedny, Arkadiusz;
Harris, Curtis C.;
Chorazy, Mieczyslaw

Publication type:

Article

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 249, doi. 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9

By:

Guilford, Parry J.;
Hopkins, Justin B.W.;
Grady, William M.;
Markowitz, Sanford D.;
Willis, Joseph;
Lynch, Henry;
Rajput, Ashwani;
Wiesner, Georgia L.;
Lindor, Noralane M.;
Burgart, Lawrence J.;
Toro, Tumi T.;
Lee, Don;
Limacher, Jean-Marc;
Shaw, David W.;
Findlay, Michael P.N.;
Reeve, Anthony E.

Publication type:

Article

A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU17>3.0.CO;2-H

By:

Nagano, Makoto;
Iwasaki, Tadao;
Hattori, Hiroaki;
Egashira, Tohru

Publication type:

Article

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 199, doi. 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A

By:

Mole, Sara E.;
Mitchison, Hannah M.;
Munroe, Patricia B.

Publication type:

Article

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9

By:

Slominsky, Petr A.;
Markova, Elena D.;
Shadrina, Marya I.;
Illarioshkin, Sergey N.;
Miklina, Natalia I.;
Limborska, Svetlana A.;
Ivanova-Smolenskaya, Irina A.

Publication type:

Article

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-V

By:

Baum, Larry;
Pang, C.P.;
Fan, Dorothy S.P.;
Poon, Priscilla M.K.;
Leung, Y.F.;
Chua, John K.H.;
Lam, Dennis S.C.

Publication type:

Article

A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU16>3.0.CO;2-K

By:

Nagano, Makoto;
Ito, Mayumi;
Sagehashi, Yukiko;
Hattori, Hiroaki;
Egashira, Tohru

Publication type:

Article

6th International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, Australia.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 183, doi. 10.1002/(SICI)1098-1004(1999)14:3<183::AID-HUMU1>3.0.CO;2-P

By:

Horaitis, Ourania;
Cotton, Richard G.H.

Publication type:

Article

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 263, doi. 10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-X

By:

Storm, Katrien;
Willocx, Sandra;
Flothmann, Kris;
Van Camp, Guy

Publication type:

Article

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V

By:

Christiansen, L.;
Ged, C.;
Hombrados, I.;
Brøns-Poulsen, J.;
Fontanellas, A.;
de Verneuil, H.;
Hørder, M.;
Petersen, N.E.

Publication type:

Article

A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N

By:

Delaere, Gino;
Stuer, Karel;
Storm, Katrien;
Willems, Patrick J.;
Van Hul, Wim

Publication type:

Article

Racial differences in the frequencies of cardiac β1-adrenergic receptor polymorphisms: Analysis of c145A>G and c1165G>C.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU14>3.0.CO;2-Q

By:

Moore, J. Donald;
Mason, Deborah A.;
Green, Stuart A.;
Hsu, Jenny;
Liggett, Stephen B.

Publication type:

Article

Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 3

A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients.

Identification of the new polymorphism IVS1-91 C→T in the beta globin gene.

Molecular basis of late-life globoid cell leukodystrophy.

Protein misfolding and degradation in genetic diseases.

Deep intronic mutations are rarely a cause of hemophilia B.

Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.

Mutation profile in the β-myosin heavy chain gene in hypertensive hypertrophic heart disease.

TP53 mutation and haplotype analysis of two large African American families.

Novel genetic polymorphisms in DNA repair genes: O<sup>6</sup>-methylguanine-DNA methyltransferase ( MGMT) and N-methylpurine-DNA glycosylase ( MPG) in lung cancer patients from Poland.

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population.

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.

A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene.

6<sup>th</sup> International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, Australia.

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation.

Racial differences in the frequencies of cardiac β<sub>1</sub>-adrenergic receptor polymorphisms: Analysis of c145A>G and c1165G>C.