Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 1

Results: 19

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 62, doi. 10.1002/humu.20274

By:

Stadt, Udo Zur;
Beutel, Karin;
Kolberg, Susanne;
Schneppenheim, Reinhard;
Kabisch, Hartmut;
Janka, Gritta;
Hennies, Hans Christian

Publication type:

Article

Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 110, doi. 10.1002/humu.20277

By:

Zhang, Xuemei;
Miao, Xiaoping;
Guo, Yongli;
Tan, Wen;
Zhou, Yifeng;
Sun, Tong;
Wang, Yonggang;
Lin, Dongxin

Publication type:

Article

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9391

By:

Dominissini, Silvia;
Buratti, Emanuele;
Bembi, Bruno;
Baralle, Marco;
Pittis, Maria Gabriela

Publication type:

Article

Functional polymorphisms in dopamine and serotonin pathway genes.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 1, doi. 10.1002/humu.20278

By:

D'Souza, Ursula M.;
Craig, Ian W.

Publication type:

Article

The UMD TP53 database and website: update and revisions.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 14, doi. 10.1002/humu.20269

By:

Hamroun, Dalil;
Kato, Shunsuke;
Ishioka, Chikashi;
Claustres, Mireille;
Béroud, Christophe;
Soussi, Thierry

Publication type:

Article

Characterization of simple sequence repeat variants linked to candidate genes for behavioral phenotypes.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 120, doi. 10.1002/humu.9394

By:

Prichard, Zoë;
Easteal, Simon

Publication type:

Article

HEY2 mutations in malformed hearts.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 118, doi. 10.1002/humu.9390

By:

Reamon-Buettner, Stella Marie;
Borlak, Juergen

Publication type:

Article

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 69, doi. 10.1002/humu.20276

By:

Hobson, Grace M.;
Huang, Zhong;
Sperle, Karen;
Sistermans, Erik;
Rogan, Peter K.;
Garbern, James Y.;
Kolodny, Edwin;
Naidu, Sakkubai;
Cambi, Franca

Publication type:

Article

Functional polymorphism in ALOX15 results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 78, doi. 10.1002/humu.20273

By:

Wittwer, Jonas;
Marti-Jaun, Jacqueline;
Hersberger, Martin

Publication type:

Article

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 31, doi. 10.1002/humu.20258

By:

Worgan, Lisa C.;
Niles, Kirsten;
Tirone, Jamie C.;
Hofmann, Adam;
Verner, Andrei;
Sammak, Alya'a;
Kucic, Terrence;
Lepage, Pierre;
Rosenblatt, David S.

Publication type:

Article

Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 88, doi. 10.1002/humu.20266

By:

Yonezawa, Satoshi;
Yoshizaki, Norio;
Kageyama, Takashi;
Takahashi, Takayuki;
Sano, Mamoru;
Tokita, Yoshihito;
Masaki, Shigeo;
Inaguma, Yutaka;
Hanai, Atsuko;
Sakurai, Nobuhiko;
Yoshiki, Atsushi;
Kusakabe, Moriaki;
Moriyama, Akihiko;
Nakayama, Atsuo

Publication type:

Article

Preferential occurrence of 1-2 microindels.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 55, doi. 10.1002/humu.20260

By:

Hill, Kathleen A.;
Gonzalez, Kelly D.;
Scaringe, William A.;
Wang, Ji-Cheng;
Sommer, Steve S.

Publication type:

Article

ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9393

By:

Röcken, Christoph;
Becker, Konrad;
Fändrich, Marcus;
Schroeckh, Volker;
Stix, Barbara;
Rath, Thomas;
Kähne, Thilo;
Dierkes, Jutta;
Roessner, Albert;
Albert, Franz Werner

Publication type:

Article

Germline mutations of the MSR1 gene in prostate cancer families from Germany.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 98, doi. 10.1002/humu.20271

By:

Maier, Christiane;
Vesovic, Zorica;
Bachmann, Natascha;
Herkommer, Kathleen;
Braun, Anja K.;
Surowy, Harald M.;
Assum, Guenter;
Paiss, Thomas;
Vogel, Walther

Publication type:

Article

Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 44, doi. 10.1002/humu.20264

By:

King, Kathy;
Sheikh, Mohammed F.;
Cuthbert, Andrew P.;
Fisher, Sheila A.;
Onnie, Clive M.;
Mirza, Muddassar M.;
Pattni, Reenal C.;
Sanderson, Jeremy;
Forbes, Alastair;
Mansfield, John;
Lewis, Cathryn M.;
Roberts, Roland G.;
Mathew, Christopher G.

Publication type:

Article

Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 103, doi. 10.1002/humu.20275

By:

Chappell, Sally;
Daly, Leslie;
Morgan, Kevin;
Guetta Baranes, Tamar;
Roca, Josep;
Rabinovich, Roberto;
Millar, Ann;
Donnelly, Seamas C.;
Keatings, Vera;
MacNee, William;
Stolk, Jan;
Hiemstra, Pieter;
Miniati, Massimo;
Monti, Simonetta;
O'Connor, Clare M.;
Kalsheker, Noor

Publication type:

Article

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 21, doi. 10.1002/humu.20268

By:

Saunders, Rebecca E.;
Goodship, Timothy H.J.;
Zipfel, Peter F.;
Perkins, Stephen J.

Publication type:

Article

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 118, doi. 10.1002/humu.9389

By:

Liquori, Christina L.;
Berg, Michel J.;
Squitieri, Ferdinando;
Ottenbacher, Monica;
Sorlie, Marielle;
Leedom, Tracey P.;
Cannella, Milena;
Maglione, Vittorio;
Ptacek, Louis;
Johnson, Eric W.;
Marchuk, Douglas A.

Publication type:

Article

Novel mutations in the human sucrase-isomaltase gene ( SI) that cause congenital carbohydrate malabsorption.

Published in:

Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9392

By:

Sander, Petra;
Alfalah, Marwan;
Keiser, Markus;
Korponay-Szabo, Ilma;
Kovács, Judit B.;
Leeb, Tosso;
Naim, Hassan Y.

Publication type:

Article