Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 6

Results: 29

Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU20>3.0.CO;2-B

By:

Perrichot, R.;
Mercier, B.;
Carre, A.;
Cledes, J.;
Ferec, C.

Publication type:

Article

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 579, doi. 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K

By:

Martin, Paula;
Heiskari, Niina;
Pajari, Heli;
Grönhagen-Riska, Carola;
Kääriäinen, Helena;
Koskimies, Olli;
Tryggvason, Karl

Publication type:

Article

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X

By:

Bareil, Corinne;
Delague, Valérie;
Arnaud, Bernard;
Demaille, Jacques;
Hamel, Christian;
Claustres, Mireille

Publication type:

Article

Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 581, doi. 10.1002/1098-1004(200006)15:6<581::AID-HUMU17>3.0.CO;2-V

By:

Shishikura, Kaori;
Hohjoh, Hirohiko;
Tokunaga<P, Katsushi

Publication type:

Article

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I

By:

Barakat, Abdelhamid;
Ababou, Mouna;
Onclercq, Rosine;
Dutertre, Stéphanie;
Chadli, ElBekkay;
Hda, Nezha;
Benslimane, Abdellah;
Amor-Guéret, Mounira

Publication type:

Article

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 522, doi. 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y

By:

Rubio-Gozalbo, M.E.;
Dijkman, K.P.;
van den Heuvel, L.P.;
Sengers, R.C.A.;
Wendel, U.;
Smeitink, J.A.M.

Publication type:

Article

Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 565, doi. 10.1002/1098-1004(200006)15:6<565::AID-HUMU8>3.0.CO;2-7

By:

O'Dell, Sandra D.;
Chen, Xiao-he;
Day, Ian N.M.

Publication type:

Article

Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 578, doi. 10.1002/1098-1004(200006)15:6<578::AID-HUMU12>3.0.CO;2-Q

By:

Balta, Gunay;
de Winter, Johan P.;
Kayserili, Hulya;
Pronk, Jan C.;
Joenje, Hans

Publication type:

Article

Identification of a polymorphism (D366H) in the endoglin gene in Chinese.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU23>3.0.CO;2-#

By:

Lin, Wei-De;
Tsai, Fuu-Jen;
Lee, Cheng-Chun;
Wu, Jer-Yuarn

Publication type:

Article

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0

By:

Laitinen, Päivi;
Fodstad, Heidi;
Piippo, Kirsi;
Swan, Heikki;
Toivonen, Lauri;
Viitasalo, Matti;
Kaprio, Jaakko;
Kontula, Kimmo

Publication type:

Article

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU27>3.0.CO;2-L

By:

Jahr, Sabine;
Lewalter, Thorsten;
Hesch, Rolf-Dieter;
Lüderitz, Berndt;
Englisch, Sabine

Publication type:

Article

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 509, doi. 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#

By:

Warren, Daniel S.;
Wolfe, Brian D.;
Gould, Stephen J.

Publication type:

Article

A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 556, doi. 10.1002/1098-1004(200006)15:6<556::AID-HUMU7>3.0.CO;2-C

By:

Ellis, L.A.;
Taylor, C.F.;
Taylor, G.R.

Publication type:

Article

Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB ( ERCC3) in Polish population.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU11>3.0.CO;2-W

By:

Butkiewicz, Dorota;
Rusin, Marek;
Harris, Curtis C.;
Chorazy, Mieczyslaw

Publication type:

Article

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU22>3.0.CO;2-2

By:

Alonso, Javier;
García-Miguel, Purificación;
Abelairas, José;
Pestaña, Angel

Publication type:

Article

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3

By:

Thiselton, Dawn L.;
Zito, Ilaria;
Plant, Catherine;
Jay, Marcelle;
Hodgson, Shirley V.;
Bird, Alan C.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU26>3.0.CO;2-O

By:

Liu, Li;
Jin, Lei;
Liu, Mugen;
Wei, Yong;
Wu, Xuejun;
Liu, Ye;
Liu, Youe;
Wang, Honghai;
Chu, Renyuan;
Chai, Jianhua

Publication type:

Article

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M

By:

Murton, Nicola J.;
Rehman, Ishtiaq;
Black, Graeme C.M.;
Inglehearn, Chris F.;
Churchill, Amanda J.

Publication type:

Article

Analysis of CDKN1C in Beckwith Wiedemann Syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 497, doi. 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F

By:

Algar, Elizabeth;
Brickell, Samantha;
Deeble, Gillian;
Amor, David;
Smith, Peter

Publication type:

Article

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 541, doi. 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N

By:

Messiaen, Ludwine M.;
Callens, Tom;
Mortier, Geert;
Beysen, Diane;
Vandenbroucke, Ina;
Van Roy, Nadine;
Speleman, Frank;
Paepe, Anne De

Publication type:

Article

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z

By:

Tessa, A.;
Simonati, A.;
Tavoni, A.;
Bertini, E.;
Santorelli, F.M.

Publication type:

Article

Human beta defensin 1 gene: Six new variants.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU21>3.0.CO;2-8

By:

Vatta, Serena;
Boniotto, Michele;
Bevilacqua, Elena;
Belgrano, Anna;
Pirulli, Doroti;
Crovella, Sergio;
Amoroso, Antonio

Publication type:

Article

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 579, doi. 10.1002/1098-1004(200006)15:6<579::AID-HUMU14>3.0.CO;2-H

By:

Martín, Miguel A.;
Rubio, Juan C.;
del Hoyo, Pilar;
García, Alberto;
Bustos, Fernando;
Campos, Yolanda;
Cabello, Ana;
Culebras, José M.;
Arenas, Joaquín

Publication type:

Article

Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R

By:

Anan, Ryuichiro;
Shono, Hirohisa;
Tei, Chuwa

Publication type:

Article

Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU18>3.0.CO;2-P

By:

Moore, Patrick S.;
Antonello, Davide;
Martignoni, Guido;
Racchini, Chiara;
Ventrucci, Maurizio;
Scarpa, Aldo

Publication type:

Article

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 585, doi. 10.1002/1098-1004(200006)15:6<585::AID-HUMU29>3.0.CO;2-C

By:

Hong, Kyeong-Man;
Hahn, Si-Houn;
Paik, Moon-Kee

Publication type:

Article

Twenty two novel mutations of the factor VII gene in factor VII deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 489, doi. 10.1002/1098-1004(200006)15:6<489::AID-HUMU1>3.0.CO;2-J

By:

Wulff, Karin;
Herrmann, Falko H.

Publication type:

Article

A novel St<sup>a</sup> glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 533, doi. 10.1002/1098-1004(200006)15:6<533::AID-HUMU5>3.0.CO;2-R

By:

Huang, Cheng-Han;
Chen, Ying;
Blumenfeld, Olga O.

Publication type:

Article

Identification of 5 novel mutations in the AGXT gene.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-#

By:

Basmaison, Odile;
Rolland, Marie-Odile;
Cochat, Pierre;
Bozon, Dominique

Publication type:

Article