Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 6

Results: 14

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.

Published in:

2007

By:

Neerman-Arbez, Marguerite;
de Moerloose, Philippe

Publication type:

Other

Highly sensitive DNA detection and point mutation identification: an electrochemical approach based on the combined use of ligase and reverse molecular beacon.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 630, doi. 10.1002/humu.20487

By:

Wu, Zai-Sheng;
Jiang, Jian-Hui;
Shen, Guo-Li;
Yu, Ru-Qin

Publication type:

Article

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 639, doi. 10.1002/humu.9497

By:

Richards, Allan J.;
Laidlaw, Maureen;
Meredith, Sarah P.;
Shankar, Pallavi;
Poulson, Arabella V.;
Scott, John D.;
Snead, Martin P.

Publication type:

Article

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 599, doi. 10.1002/humu.20493

By:

Wimmer, K.;
Roca, X.;
Beiglböck, H.;
Callens, T.;
Etzler, J.;
Rao, A.R.;
Krainer, A.R.;
Fonatsch, C.;
Messiaen, L.

Publication type:

Article

Progress in understanding the biology of the human mutagen LINE-1.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 527, doi. 10.1002/humu.20486

By:

Babushok, Daria V.;
Kazazian, Haig H.

Publication type:

Article

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496

By:

Frank, Valeska;
Ortiz Brüchle, Nadina;
Mager, Silke;
Frints, Susanna G. M.;
Bohring, Axel;
du Bois, Gabriele;
Debatin, Irmgard;
Seidel, Heide;
Senderek, Jan;
Besbas, Nesrin;
Todt, Unda;
Kubisch, Christian;
Grimm, Tiemo;
Teksen, Fulya;
Balci, Sevim;
Zerres, Klaus;
Bergmann, Carsten

Publication type:

Article

Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 578, doi. 10.1002/humu.20481

By:

Hocker, Thomas;
Tsao, Hensin

Publication type:

Article

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 613, doi. 10.1002/humu.20496

By:

Cascón, Alberto;
Escobar, Beatriz;
Montero-Conde, Cristina;
Rodríguez-Antona, Cristina;
Ruiz-Llorente, Sergio;
Osorio, Ana;
Mercadillo, Fátima;
Letón, Rocío;
Campos, José M.;
García-Sagredo, José M.;
Benítez, Javier;
Malumbres, Marcos;
Robledo, Mercedes

Publication type:

Article

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 571, doi. 10.1002/humu.20478

By:

Ebermann, Inga;
Walger, Martin;
Scholl, Hendrik P.N.;
Issa, Peter Charbel;
Lüke, Christoph;
Nürnberg, Gudrun;
Lang-Roth, Ruth;
Becker, Christian;
Nürnberg, Peter;
Bolz, Hanno J.

Publication type:

Article

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9495

By:

Liskova, Petra;
Tuft, Stephen J.;
Gwilliam, Rhian;
Ebenezer, Neil D.;
Jirsova, Katerina;
Prescott, Quincy;
Martincova, Radka;
Pretorius, Marike;
Sinclair, Neil;
Boase, David L.;
Jeffrey, Margaret J.;
Deloukas, Panos;
Hardcastle, Alison J.;
Filipec, Martin;
Bhattacharya, Shomi S.

Publication type:

Article

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 563, doi. 10.1002/humu.20480

By:

Chhin, Brigitte;
Hatayama, Minoru;
Bozon, Dominique;
Ogawa, Miyuki;
Schön, Patric;
Tohmonda, Takahide;
Sassolas, François;
Aruga, Jun;
Valard, Anna-Gaëlle;
Chen, Su-Chiung;
Bouvagnet, Patrice

Publication type:

Article

PhenCode: connecting ENCODE data with mutations and phenotype.

Published in:

2007

By:

Giardine, Belinda;
Riemer, Cathy;
Hefferon, Tim;
Thomas, Daryl;
Hsu, Fan;
Zielenski, Julian;
Sang, Yunhua;
Elnitski, Laura;
Cutting, Garry;
Trumbower, Heather;
Kern, Andrew;
Kuhn, Robert;
Patrinos, George P.;
Hughes, Jim;
Higgs, Doug;
Chui, David;
Scriver, Charles;
Phommarinh, Manyphong;
Patnaik, Santosh K.;
Blumenfeld, Olga

Publication type:

Other

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 622, doi. 10.1002/humu.20495

By:

Petitjean, Audrey;
Mathe, Ewy;
Kato, Shunsuke;
Ishioka, Chikashi;
Tavtigian, Sean V.;
Hainaut, Pierre;
Olivier, Magali

Publication type:

Article

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 589, doi. 10.1002/humu.20488

By:

Kanda, Atsuhiro;
Friedman, James S.;
Nishiguchi, Koji M.;
Swaroop, Anand

Publication type:

Article