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

Results: 27

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
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
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
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
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