Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 6

Results: 25

Mutation-specific database and bioinformatics resource for DMD.

Published in:

2009

By:

Flanigan, Kevin M.

Publication type:

Other

Molecular neonatal screening for homocystinuria in the Qatari population.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 1021, doi. 10.1002/humu.20994

By:

Zschocke, Johannes;
Kebbewar, Moustafa;
Gan-Schreier, Hongying;
Fischer, Christine;
Fang-Hoffmann, Junmin;
Wilrich, Julia;
Abdoh, Ghassan;
Ben-Omran, Tawfeg;
Shahbek, Noora;
Lindner, Martin;
Al Rifai, Hilal;
Al Khal, Abdul Latif;
Hoffmann, Georg F.

Publication type:

Article

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 995, doi. 10.1002/humu.21000

By:

Mitchell, Anna L.;
Schwarze, Ulrike;
Jennings, Jessica F.;
Byers, Peter H.

Publication type:

Article

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Published in:

2009

By:

Tuffery-Giraud, Sylvie;
Béroud, Christophe;
Leturcq, France;
Yaou, Rabah Ben;
Hamroun, Dalil;
Michel-Calemard, Laurence;
Moizard, Marie-Pierre;
Bernard, Rafaëlle;
Cossée, Mireille;
Boisseau, Pierre;
Blayau, Martine;
Creveaux, Isabelle;
Guiochon-Mantel, Anne;
de Martinville, Bérengère;
Philippe, Christophe;
Monnier, Nicole;
Bieth, Eric;
Van Kien, Philippe Khau;
Desmet, François-Olivier;
Humbertclaude, Véronique

Publication type:

Other

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 860, doi. 10.1002/humu.21019

By:

Vossen, Rolf H.A.M.;
Aten, Emmelien;
Roos, Anja;
den Dunnen, Johan T.

Publication type:

Article

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner™.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 899, doi. 10.1002/humu.21004

By:

van der Stoep, Nienke;
van Paridon, Chantal D.M.;
Janssens, Tom;
Krenkova, Petra;
Stambergova, Alexandra;
Macek, Milan;
Matthijs, Gert;
Bakker, Egbert

Publication type:

Article

Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 1023, doi. 10.1002/humu.21048

By:

Danielsen, Stine A.;
Lind, Guro E.;
Bjørnslett, Merete;
Meling, Gunn I.;
Rognum, Torleiv O.;
Heim, Sverre;
Lothe, Ragnhild A.

Publication type:

Article

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 1003, doi. 10.1002/humu.20996

By:

Voss, Katrin;
Stahl, Sonja;
Hogan, Benjamin M.;
Reinders, Joerg;
Schleider, Elisa;
Schulte-Merker, Stefan;
Felbor, Ute

Publication type:

Article

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 867, doi. 10.1002/humu.20947

By:

Rouleau, Etienne;
Lefol, Cédrick;
Bourdon, Violaine;
Coulet, Florence;
Noguchi, Tetsuro;
Soubrier, Florent;
Bièche, Ivan;
Olschwang, Sylviane;
Sobol, Hagay;
Lidereau, Rosette

Publication type:

Article

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Published in:

2009

By:

Williams, Emma L.;
Acquaviva, Cecile;
Amoroso, Antonio;
Chevalier, Francoise;
Coulter-Mackie, Marion;
Monico, Carla G.;
Giachino, Daniela;
Owen, Tricia;
Robbiano, Angela;
Salido, Eduardo;
Waterham, Hans;
Rumsby, Gill

Publication type:

Other

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 891, doi. 10.1002/humu.21003

By:

Dobrowolski, Steven F.;
Gray, Jesse;
Miller, Trent;
Sears, Mitch

Publication type:

Article

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

Published in:

2009

By:

Frédéric, Mélissa Yana;
Lalande, Marine;
Boileau, Catherine;
Hamroun, Dalil;
Claustres, Mireille;
Béroud, Christophe;
Collod-Béroud, Gwenaëlle

Publication type:

Other

IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Published in:

2009

By:

Carr, Ian M.;
Sheridan, Eamonn;
Hayward, Bruce E.;
Markham, Alexander F.;
Bonthron, David T.

Publication type:

Other

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase ( HGSNAT) gene.

Published in:

2009

By:

Feldhammer, Matthew;
Durand, Stéphanie;
Mrázová, Lenka;
Boucher, Renée-Myriam;
Laframboise, Rachel;
Steinfeld, Robert;
Wraith, James E.;
Michelakakis, Helen;
van Diggelen, Otto P.;
Hřebíček, Martin;
Kmoch, Stanislav;
Pshezhetsky, Alexey V.

Publication type:

Other

A novel mutation in CD40 and its functional characterization.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 985, doi. 10.1002/humu.20967

By:

Qi, Chun-Jian;
Zheng, Lu;
Ma, Hong-Bing;
Fei, Min;
Qian, Ke-Qing;
Shen, Bai-Rong;
Wu, Chang-Ping;
Vihinen, Mauno;
Zhang, Xue-Guang

Publication type:

Article

COLdb, a database linking genetic data to molecular function in fibrillar collagens.

Published in:

2009

By:

Bodian, Dale L.;
Klein, Teri E.

Publication type:

Other

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 884, doi. 10.1002/humu.20949

By:

Nguyen-Dumont, Tú;
Calvez-Kelm, Florence Le;
Forey, Nathalie;
McKay-Chopin, Sandrine;
Garritano, Sonia;
Gioia-Patricola, Lydie;
De Silva, Deepika;
Weigel, Ron;
Sangrajrang, Suleeporn;
Lesueur, Fabienne;
Tavtigian, Sean V.

Publication type:

Article

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Published in:

2009

By:

Schmitt, Sébastien;
Küry, Sébastien;
Giraud, Mathilde;
Dréno, Brigitte;
Kharfi, Monia;
Bézieau, Stéphane

Publication type:

Other

Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 876, doi. 10.1002/humu.20919

By:

Tindall, Elizabeth A.;
Petersen, Desiree C.;
Woodbridge, Paula;
Schipany, Katharina;
Hayes, Vanessa M.

Publication type:

Article

Mosaic mutation detection: finding the rare ones.

Published in:

2009

By:

Nilsson, Mats

Publication type:

Other

Fishing for domains of the CCM3 protein.

Published in:

2009

By:

Oefner, Peter

Publication type:

Other

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 978, doi. 10.1002/humu.20959

By:

Persichetti, Emanuele;
Chuzhanova, Nadia A.;
Dardis, Andrea;
Tappino, Barbara;
Pohl, Sandra;
Thomas, Nick S.T.;
Rosano, Camillo;
Balducci, Chiara;
Paciotti, Silvia;
Dominissini, Silvia;
Montalvo, Anna Lisa;
Sibilio, Michela;
Parini, Rossella;
Rigoldi, Miriam;
Di Rocco, Maja;
Parenti, Giancarlo;
Orlacchio, Aldo;
Bembi, Bruno;
Cooper, David N.;
Filocamo, Mirella

Publication type:

Article

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 1012, doi. 10.1002/humu.20980

By:

Rohlin, Anna;
Wernersson, Josephine;
Engwall, Yvonne;
Wiklund, Leif;
Björk, Jan;
Nordling, Margareta

Publication type:

Article

High-resolution DNA melting analysis: advancements and limitations.

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 857, doi. 10.1002/humu.20951

By:

Wittwer, Carl T.

Publication type:

Article

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.

Published in:

2009

By:

Brookes, Anthony J.;
Lehvaslaiho, Heikki;
Muilu, Juha;
Shigemoto, Yasumasa;
Oroguchi, Takashige;
Tomiki, Takeshi;
Mukaiyama, Atsuhiro;
Konagaya, Akihiko;
Kojima, Toshio;
Inoue, Ituro;
Kuroda, Masako;
Mizushima, Hiroshi;
Thorisson, Gudmundur A.;
Dash, Debasis;
Rajeevan, Haseena;
Darlison, Matthew W.;
Woon, Mark;
Fredman, David;
Smith, Albert V.;
Senger, Martin

Publication type:

Other