Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 4

Results: 16

An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 305, doi. 10.1002/humu.10118

By:

Matin, Maryam M.;
Baumer, Alessandra;
Hornby, David P.

Publication type:

Article

PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 298, doi. 10.1002/humu.10129

By:

Maheshwari, M.;
Belmont, J.;
Fernbach, S.;
Ho, T.;
Molinari, L.;
Yakub, I.;
Yu, F.;
Combes, A.;
Towbin, J.;
Craigen, W. J.;
Gibbs, R.

Publication type:

Article

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9065

By:

Dagher, Hayat;
Yan Wang, Yan;
Fassett, Rob;
Savige, Judy

Publication type:

Article

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 323, doi. 10.1002/humu.9069

By:

Yaron, Yuval;
Ben Zeev, Bruria;
Shomrat, Ruth;
Bercovich, Dani;
Naiman, Tova;
Orr-Urtreger, Avi

Publication type:

Article

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 284, doi. 10.1002/humu.10124

By:

Braverman, Nancy;
Chen, Li;
Lin, Paul;
Obie, Cassandra;
Steel, Gary;
Douglas, Pamela;
Chakraborty, Pranesh K.;
Clarke, Joe T.R.;
Boneh, Avihu;
Moser, Ann;
Moser, Hugo;
Valle, David

Publication type:

Article

Erratum: 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. 4, p. 321, doi. 10.1002/humu.9064

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

One-Step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 323, doi. 10.1002/humu.9068

By:

Scott, Shaun P.;
Teh, Alison;
Peng, Cheng;
Lavin, Martin F.

Publication type:

Article

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 249, doi. 10.1002/humu.10130

By:

Winnepenninckx, Birgitta;
Errijgers, Vanessa;
Hayez-Delatte, France;
Reyniers, Edwin;
Frank Kooy, R.

Publication type:

Article

rSNP_Guide: An integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sites.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 239, doi. 10.1002/humu.10116

By:

Ponomarenko, Julia V.;
Orlova, Galina V.;
Merkulova, Tatyana I.;
Gorshkova, Elena V.;
Fokin, Oleg N.;
Vasiliev, Gennady V.;
Frolov, Anatoly S.;
Ponomarenko, Mikhail P.

Publication type:

Article

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 312, doi. 10.1002/humu.10127

By:

Ferraris, Alessandro;
Rappaport, Eric;
Santacroce, Rosa;
Pollak, Eleanor;
Krantz, Ian;
Toth, Stephen;
Lysholm, Frida;
Margaglione, Maurizio;
Restagno, Gabriella;
Dallapiccola, Bruno;
Surrey, Saul;
Fortina, Paolo

Publication type:

Article

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9067

By:

Hanein, Sylvain;
Perrault, Isabelle;
Olsen, Päivi;
Lopponen, Tuija;
Hietala, Marja;
Gerber, Sylvie;
Jeanpierre, Marc;
Barbet, Fabienne;
Ducroq, Dominique;
Hakiki, Sélim;
Munnich, Arnold;
Rozet, Jean-Michel;
Kaplan, Josseline

Publication type:

Article

Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assay.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 253, doi. 10.1002/humu.10111

By:

Petersen, Desiree C.;
Laten, Annette;
Zeier, Michele D.;
Grimwood, Ashraf;
Rensburg, Estrelita Janse van;
Hayes, Vanessa M.

Publication type:

Article

Characterization of a novel CYP2A7/CYP2A6 hybrid allele ( CYP2A6*12) that causes reduced CYP2A6 activity.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 275, doi. 10.1002/humu.10126

By:

Oscarson, Mikael;
McLellan, Roman A.;
Asp, Vendela;
Ledesma, MariCarmen;
Ruiz, Maria Luisa Bernal;
Sinues, Blanca;
Rautio, Arja;
Ingelman-Sundberg, Magnus

Publication type:

Article

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 267, doi. 10.1002/humu.10119

By:

Citron, Michael;
Godmilow, Lynn;
Ganguly, Tapan;
Ganguly, Arupa

Publication type:

Article

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066

By:

Sale, Michèle M.;
Craig, Jamie E.;
Charlesworth, Jacinta C.;
FitzGerald, Liesel M.;
Hanson, Isabel M.;
Dickinson, Joanne L.;
Matthews, Sarah J.;
Heyningen, Veronica van;
Fingert, John H.;
Mackey, David A.

Publication type:

Article

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 260, doi. 10.1002/humu.10121

By:

Loudianos, G.;
Lovicu, M.;
Dessi, V.;
Tzetis, M.;
Kanavakis, E.;
Zancan, L.;
Zelante, L.;
Galvèz-Galvèz, C.;
Cao, A.

Publication type:

Article