Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 5

Results: 27

Genetic characterization of myeloperoxidase deficiency in Italy.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 496, doi. 10.1002/humu.20027

By:

Marchetti, Caterina;
Patriarca, Pierluigi;
Solero, G. Pietro;
Baralle, Francisco E.;
Romano, Maurizio

Publication type:

Article

The challenge of documenting mutation across the genome: The human genome variation society approach.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 447, doi. 10.1002/humu.20038

By:

Horaitis, Ourania;
Cotton, Richard G. H.

Publication type:

Article

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 525, doi. 10.1002/humu.9241

By:

Maystadt, I.;
Zarhrate, M.;
Landrieu, P.;
Boespflug-Tanguy, O.;
Sukno, S.;
Collignon, P.;
Melki, J.;
Verellen-Dumoulin, C.;
Munnich, A.;
Viollet, L.

Publication type:

Article

Mutation analysis of the adenomatous polyposis coli ( APC) gene in Danish patients with familial adenomatous polyposis (FAP).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9234

By:

Bisgaard, Marie Luise;
Ripa, RASMUS S.;
Bülow, Steffen

Publication type:

Article

Characterization of seven novel mutations in seven patients with GAMT deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9238

By:

Item, C.B.;
Mercimek-Mahmutoglu, S.;
Battini, R.;
Edlinger-Horvat, C.;
Stromberger, C.;
Bodamer, O.;
Mühl, A.;
Vilaseca, M.A.;
Korall, H.;
Stöckler-Ipsiroglu, S.

Publication type:

Article

PAP: Detection of ultra rare mutations depends on P<sup>*</sup> oligonucleotides: 'Sleeping Beauties' awakened by the kiss of pyrophosphorolysis.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 426, doi. 10.1002/humu.20036

By:

Liu, Qiang;
Sommer, Steve S.

Publication type:

Article

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 471, doi. 10.1002/humu.20028

By:

Ramírez, Alfredo;
Faupel, Julia;
Goebel, Ingrid;
Stiller, Anne;
Beyer, Susanne;
Stöckle, Christina;
Hasan, Carola;
Bode, Udo;
Kornak, Uwe;
Kubisch, Christian

Publication type:

Article

An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 477, doi. 10.1002/humu.20026

By:

Denecke, Jonas;
Kranz, Christian;
Kemming, Dirk;
Koch, Hans-Georg;
Marquardt, Thorsten

Publication type:

Article

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 513, doi. 10.1002/humu.20022

By:

Vrettou, Christina;
Traeger-Synodinos, Joanne;
Tzetis, Maria;
Palmer, Giles;
Sofocleous, Christalena;
Kanavakis, Emmanuel

Publication type:

Article

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 487, doi. 10.1002/humu.20019

By:

Bergmann, Carsten;
Senderek, Jan;
Schneider, Frank;
Dornia, Christian;
Küpper, Fabian;
Eggermann, Thomas;
Rudnik-Schöneborn, Sabine;
Kirfel, Jutta;
Moser, Markus;
Büttner, Reinhard;
Zerres, Klaus

Publication type:

Article

Detection of Parkin ( PARK2) and DJ1 ( PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 525, doi. 10.1002/humu.9240

By:

Djarmati, Ana;
Hedrich, Katja;
Svetel, Marina;
Schäfer, Nora;
Juric, Vladislava;
Vukosavic, Slobodanka;
Hering, Robert;
Riess, Olaf;
Romac, Stanka;
Klein, Christine;
Kostic, Vladimir

Publication type:

Article

Novel mutations in the TRIM37 gene in Mulibrey Nanism.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9233

By:

Hämäläinen, Riikka H.;
Avela, Kristiina;
Lambert, Julie A.;
Kallijärvi, Jukka;
Eyaid, Wafaa;
Gronau, Jürgen;
Ignaszewski, Andrew P.;
McFadden, Deborah;
Sorge, Giovanni;
Lipsanen-Nyman, Marita;
Lehesjoki, Anna-Elina

Publication type:

Article

First genotype characterization of Argentinean FAP patients: Identification of 14 novel APCmutations.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 523, doi. 10.1002/humu.9237

By:

Rosa, Marina De;
Dourisboure, Ricardo J.;
Morelli, Gemma;
Graziano, Alfredo;
Gutiérrez, Alejandro;
Thibodeau, Stephen;
Halling, Kevin;
Avila, Karina Collia;
Duraturo, Francesca;
Podesta, Ernesto J.;
Izzo, Paola;
Solano, Angela R.

Publication type:

Article

The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 464, doi. 10.1002/humu.20021

By:

Yip, Yum L.;
Scheib, Holger;
Diemand, Alexander V.;
Gattiker, Alexandre;
Famiglietti, Livia M.;
Gasteiger, Elisabeth;
Bairoch, Amos

Publication type:

Article

Human vitamin K-dependent GAS6: Gene structure, allelic variation, and association with stroke.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 506, doi. 10.1002/humu.20025

By:

Muñoz, Xavier;
Sumoy, Lauro;
Ramírez-Lorca, Reposo;
Villar, José;
Frutos, Pablo García de;
Sala, Núria

Publication type:

Article

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 453, doi. 10.1002/humu.20029

By:

Bergmann, Carsten;
Senderek, Jan;
Küpper, Fabian;
Schneider, Frank;
Dornia, Christian;
Windelen, Ellen;
Eggermann, Thomas;
Rudnik-Schöneborn, Sabine;
Kirfel, Jutta;
Furu, Laszlo;
Onuchic, Luiz F.;
Rossetti, Sandro;
Harris, Peter C.;
Somlo, Stefan;
Guay-Woodford, Lisa;
Germino, Gregory G.;
Moser, Markus;
Büttner, Reinhard;
Zerres, Klaus

Publication type:

Article

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9243

By:

de Haar, Susanne F.;
Jansen, D. (Ineke) C.;
Schoenmaker, Ton;
Vree, Hilde De;
Everts, Vincent;
Beertsen, Wouter

Publication type:

Article

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 523, doi. 10.1002/humu.9236

By:

Özgü, Rıza Köksal;
Durukan, Hakan;
Turan, Ayşe;
Öner, Cihan;
Öğüş, Ay;
Farber, Debora B.

Publication type:

Article

Single-molecule analysis for molecular haplotyping.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 442, doi. 10.1002/humu.20020

By:

Kwok, Pui-Yan;
Xiao, Ming

Publication type:

Article

Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 401, doi. 10.1002/humu.20031

By:

Syvänen, Ann-Christine;
Taylor, Graham R.

Publication type:

Article

PCR-Based detection of minority point mutations.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 406, doi. 10.1002/humu.20024

By:

Mike Makrigiorgos, G.

Publication type:

Article

MLPA and MAPH: New techniques for detection of gene deletions.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 413, doi. 10.1002/humu.20035

By:

Sellner, Loryn N.;
Taylor, Graham R.

Publication type:

Article

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 526, doi. 10.1002/humu.9242

By:

Hübner, Christian A.;
Utermann, Barbara;
Tinschert, Sigrid;
Krüger, Gabriele;
Ressler, Bernadette;
Steglich, Cordula;
Schinzel, Albert;
Gal, Andreas

Publication type:

Article

A novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK<sup>+</sup> phenotype.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9235

By:

L. Ginn, Samantha;
Smyth, Christine;
Wong, Melanie;
Bennetts, Bruce;
B. Rowe, Peter;
E. Alexander, Ian

Publication type:

Article

OCRLMutation analysis in Italian patients with Lowe syndrome.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9239

By:

Addis, Maria;
Loi, Mario;
Lepiani, Carmen;
Cau, Milena;
Melis, Maria Antonietta

Publication type:

Article

DNA analysis by MALDI-TOF mass spectrometry.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 437, doi. 10.1002/humu.20023

By:

Gut, Ivo Glynne

Publication type:

Article

Proofreading genotyping assays and electrochemical detection of SNPs.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 420, doi. 10.1002/humu.20034

By:

King, Garry C.;
Di Giusto, Daniel A.;
Wlassoff, Wjatschesslaw A.;
Giesebrecht, Susanne;
Flening, Eleanor;
Tyrelle, Gregory D.

Publication type:

Article