Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 5

Results: 27

High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 757, doi. 10.1002/humu.20726

By:

Bastien, Roy;
Lewis, Tracey B.;
Hawkes, Jason E.;
Quackenbush, John F.;
Robbins, Thomas C.;
Palazzo, Juan;
Perou, Charles M.;
Bernard, Philip S.

Publication type:

Article

A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 640, doi. 10.1002/humu.20692

By:

Haghighi, Kobra;
Chen, Guoli;
Sato, Yoji;
Fan, Guo-Chang;
He, Suiwen;
Kolokathis, Fotis;
Pater, Luke;
Paraskevaidis, Ioannis;
Jones, W. Keith.;
Dorn II, Gerald W.;
Th. Kremastinos, Dimitrios;
Kranias, Evangelia G.

Publication type:

Article

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696

By:

Monnier, Nicole;
Marty, Isabelle;
Faure, Julien;
Castiglioni, Claudia;
Desnuelle, Claude;
Sacconi, Sabrina;
Estournet, Brigitte;
Ferreiro, Ana;
Romero, Norma;
Laquerriere, Annie;
Lazaro, Leila;
Martin, Jean-Jacques;
Morava, Eva;
Rossi, Annick;
Van der Kooi, Anneke;
de Visser, Marianne;
Verschuuren, Corien;
Lunardi, Joël

Publication type:

Article

CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 623, doi. 10.1002/humu.20667

By:

Tarazona-Santos, Eduardo;
Bernig, Toralf;
Burdett, Laurie;
Magalhaes, Wagner C.S.;
Fabbri, Cristina;
Liao, Jason;
Redondo, Rodrigo A.F.;
Welch, Robert;
Yeager, Meredith;
Chanock, Stephen J.

Publication type:

Article

N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 738, doi. 10.1002/humu.20721

By:

Gené, G.G.;
Llobet, A.;
Larriba, S.;
de Semir, D.;
Martínez, I.;
Escalada, A.;
Solsona, C.;
Casals, T.;
Aran, J.M.

Publication type:

Article

Validation of the performance of a comprehensive genotyping assay panel of single nucleotide polymorphisms in drug metabolism enzyme genes.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 750, doi. 10.1002/humu.20703

By:

Welch, Robert A.;
Lazaruk, Katherine;
Haque, Kashif A.;
Hyland, Fiona;
Xiao, Nianqing;
Wronka, Loni;
Burdett, Laura;
Chanock, Stephen J.;
Ingber, Daniel;
De La Vega, Francisco M.;
Yeager, Meredith

Publication type:

Article

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 769, doi. 10.1002/humu.20725

By:

Bettens, Karolien;
Brouwers, Nathalie;
Engelborghs, Sebastiaan;
De Deyn, Peter P.;
Van Broeckhoven, Christine;
Sleegers, Kristel

Publication type:

Article

Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 609, doi. 10.1002/humu.20707

By:

Marchetti, Antonio;
Felicioni, Lara;
Pelosi, Giuseppe;
Del Grammastro, Maela;
Fumagalli, Caterina;
Sciarrotta, Mariagrazia;
Malatesta, Sara;
Chella, Antonio;
Barassi, Fabio;
Mucilli, Felice;
Camplese, Pierpaolo;
D'Antuono, Tommaso;
Sacco, Rocco;
Buttitta, Fiamma

Publication type:

Article

Large scale DNA sequencing: new challenges emerge-the 2007 Human Genome Variation Society scientific meeting.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 765, doi. 10.1002/humu.20729

By:

Oetting, William S.

Publication type:

Article

A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 648, doi. 10.1002/humu.20695

By:

Halder, Indrani;
Shriver, Mark;
Thomas, Matt;
Fernandez, Jose R;
Frudakis, Tony

Publication type:

Article

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 633, doi. 10.1002/humu.20688

By:

Greene, Elizabeth L.;
Horvath, Anelia D.;
Nesterova, Maria;
Giatzakis, Christoforos;
Bossis, Ioannis;
Stratakis, Constantine A.

Publication type:

Article

K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 689, doi. 10.1002/humu.20702

By:

Do, Ron;
Paré, Guillaume;
Montpetit, Alexandre;
Hudson, Thomas J.;
Gaudet, Daniel;
Engert, James C.

Publication type:

Article

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 769, doi. 10.1002/humu.20724

By:

Gu, Feng;
Luo, Weixiao;
Li, Xin;
Wang, Zhuoqun;
Lu, Shuang;
Zhang, Meng;
Zhao, Baojian;
Zhu, Siquan;
Feng, Shan;
Yan, Yong-bin;
Huang, Shangzhi;
Ma, Xu

Publication type:

Article

MID1 mutations in patients with X-linked Opitz G/BBB syndrome.

Published in:

2008

By:

Fontanella, Bianca;
Russolillo, Giorgio;
Meroni, Germana

Publication type:

Other

Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 718, doi. 10.1002/humu.20717

By:

Yao, Dengbing;
Mizuguchi, Hiroshi;
Yamaguchi, Miyoko;
Yamada, Hiroshi;
Chida, Junji;
Shikata, Koji;
Kido, Hiroshi

Publication type:

Article

6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 659, doi. 10.1002/humu.20694

By:

Janke, Daniel;
Mehralivand, Sherif;
Strand, Dennis;
Gödtel-Armbrust, Ute;
Habermeier, Alice;
Gradhand, Ulrike;
Fischer, Christine;
Toliat, Mohammad R.;
Fritz, Peter;
Zanger, Ulrich M.;
Schwab, Matthias;
Fromm, Martin F.;
Nürnberg, Peter;
Wojnowski, Leszek;
Closs, Ellen I.;
Lang, Thomas

Publication type:

Article

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Published in:

2008

By:

Fusco, Francesca;
Pescatore, Alessandra;
Bal, Elodie;
Ghoul, Aida;
Paciolla, Mariateresa;
Lioi, Maria Brigida;
D'Urso, Michele;
Rabia, Smail Hadj;
Bodemer, Christine;
Bonnefont, Jean Paul;
Munnich, Arnold;
Miano, Maria Giuseppina;
Smahi, Asma;
Ursini, Matilde Valeria

Publication type:

Other

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene ( GBA).

Published in:

2008

By:

Hruska, Kathleen S.;
LaMarca, Mary E.;
Scott, C. Ronald;
Sidransky, Ellen

Publication type:

Other

Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 679, doi. 10.1002/humu.20698

By:

Mwenifumbo, Jill C.;
Al Koudsi, Nael;
Ho, Man Ki;
Zhou, Qian;
Hoffmann, Ewa B.;
Sellers, Edward M.;
Tyndale, Rachel F.

Publication type:

Article

Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 617, doi. 10.1002/humu.20730

By:

Medina, Pedro P.;
Romero, Octavio A.;
Kohno, Takashi;
Montuenga, Luis M.;
Pio, Ruben;
Yokota, Jun;
Sanchez-Cespedes, Montse

Publication type:

Article

Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia ( MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinoma.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 703, doi. 10.1002/humu.20701

By:

Saigo, Kenichi;
Yoshida, Kenichi;
Ikeda, Ryuji;
Sakamoto, Yoshiko;
Murakami, Yoshiki;
Urashima, Tetsuro;
Asano, Takehide;
Kenmochi, Takashi;
Inoue, Ituro

Publication type:

Article

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 709, doi. 10.1002/humu.20712

By:

Stahl, Sonja;
Gaetzner, Sabine;
Voss, Katrin;
Brackertz, Bettina;
Schleider, Elisa;
Sürücü, Oguzkan;
Kunze, Ekkehard;
Netzer, Christian;
Korenke, Christoph;
Finckh, Ulrich;
Habek, Mario;
Poljakovic, Zdravka;
Elbracht, Miriam;
Rudnik-Schöneborn, Sabine;
Bertalanffy, Helmut;
Sure, Ulrich;
Felbor, Ute

Publication type:

Article

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 695, doi. 10.1002/humu.20705

By:

Yang, Yaoming;
Houle, Anne-Marie;
Letendre, Julien;
Richter, Andrea

Publication type:

Article

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 770, doi. 10.1002/humu.20727

By:

Trochet, Delphine;
de Pontual, Loïc;
Estêvao, Maria Helena;
Mathieu, Yves;
Munnich, Arnold;
Feingold, J.;
Goridis, Christo;
Lyonnet, Stanislas;
Amiel, Jeanne

Publication type:

Article

The Mutation p.Ser298Pro in the sulphamidase gene ( SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome).

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 770, doi. 10.1002/humu.20738

By:

Meyer, Ann;
Kossow, Kai;
Gal, Andreas;
Steglich, Cordula;
Mühlhausen, Chris;
Ullrich, Kurt;
Braulke, Thomas;
Muschol, Nicole

Publication type:

Article

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 728, doi. 10.1002/humu.20722

By:

Kesari, Akanchha;
Pirra, Laura N.;
Bremadesam, Lakshmi;
McIntyre, Orinthal;
Gordon, Erynn;
Dubrovsky, Alberto L.;
Viswanathan, V.;
Hoffman, Eric P

Publication type:

Article

The human retinitis pigmentosa GTPase regulator gene variant database.

Published in:

2008

By:

Shu, Xinhua;
McDowall, Ewan;
Brown, Alastair F.;
Wright, Alan F.

Publication type:

Other