Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 5

Results: 19

Mutants TP53 p.R273H and p.R273C but not p.R273G Enhance Cancer Cell Malignancy.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 575, doi. 10.1002/humu.22528

By:

Li, Jie;
Yang, Lixin;
Gaur, Shikha;
Zhang, Keqiang;
Wu, Xiwei;
Yuan, Yate ‐ Ching;
Li, Hongzhi;
Hu, Shuya;
Weng, Yaguang;
Yen, Yun

Publication type:

Article

Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 537, doi. 10.1002/humu.22520

By:

Lee, In ‐ Hee;
Lee, Kyungjoon;
Hsing, Michael;
Choe, Yongjoon;
Park, Jin ‐ Ho;
Kim, Shu Hee;
Bohn, Justin M.;
Neu, Matthew B.;
Hwang, Kyu ‐ Baek;
Green, Robert C.;
Kohane, Isaac S.;
Kong, Sek Won

Publication type:

Article

Jannovar: A Java Library for Exome Annotation.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 548, doi. 10.1002/humu.22531

By:

Jäger, Marten;
Wang, Kai;
Bauer, Sebastian;
Smedley, Damian;
Krawitz, Peter;
Robinson, Peter N.

Publication type:

Article

Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 637, doi. 10.1002/humu.22530

By:

Fortina, Paolo;
Khaja, Najib Al;
Ali, Mahmoud Taleb Al;
Hamzeh, Abdul Rezzak;
Nair, Pratibha;
Innocenti, Federico;
Patrinos, George P.;
Kricka, Larry J.

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 571, doi. 10.1002/humu.22540

By:

Gillis, Elisabeth;
Kempers, Marlies;
Salemink, Simone;
Timmermans, Janneke;
Cheriex, Emile C.;
Bekkers, Sebastiaan C.A.M.;
Fransen, Erik;
De Die ‐ Smulders, Christine E.M.;
Loeys, Bart L.;
Laer, Lut Van

Publication type:

Article

Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase ( Mthfr) Deficiency Suggests a Mechanism for Selection of the MTHFR 677 C> T (c.665 C> T) Variant.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 594, doi. 10.1002/humu.22533

By:

Meadows, Danielle N.;
Pyzik, Michal;
Wu, Qing;
Torre, Sabrina;
Gros, Philippe;
Vidal, Silvia M.;
Rozen, Rima

Publication type:

Article

A Dominant STIM1 Mutation Causes Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 556, doi. 10.1002/humu.22544

By:

Misceo, Doriana;
Holmgren, Asbjørn;
Louch, William E.;
Holme, Pål A.;
Mizobuchi, Masahiro;
Morales, Raul J.;
De Paula, André Maues;
Stray ‐ Pedersen, Asbjørg;
Lyle, Robert;
Dalhus, Bjørn;
Christensen, Geir;
Stormorken, Helge;
Tjønnfjord, Geir E.;
Frengen, Eirik

Publication type:

Article

The MTHFR C677T/c.665C>T Polymorphism and Malaria: A Selective Advantage?

Published in:

2014

By:

Miller, Joshua W.

Publication type:

Other

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1 A, the ' DFNA48 Gene', as a Cause of Deafness.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 565, doi. 10.1002/humu.22532

By:

Eisenberger, Tobias;
Di Donato, Nataliya;
Baig, Shahid M.;
Neuhaus, Christine;
Beyer, Anke;
Decker, Eva;
Mürbe, Dirk;
Decker, Christian;
Bergmann, Carsten;
Bolz, Hanno J.

Publication type:

Article

Pathogenic: Light or Dark Skin?

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 520, doi. 10.1002/humu.22543

By:

Dunnen, Johan T.

Publication type:

Article

The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 513, doi. 10.1002/humu.22536

By:

Bowdin, Sarah;
Ray, Peter N.;
Cohn, Ronald D.;
Meyn, M. Stephen

Publication type:

Article

Gene Conversion Violates the Stepwise Mutation Model for Microsatellites in Y-Chromosomal Palindromic Repeats.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 609, doi. 10.1002/humu.22542

By:

Balaresque, Patricia;
King, Turi E.;
Parkin, Emma J.;
Heyer, Evelyne;
Carvalho ‐ Silva, Denise;
Kraaijenbrink, Thirsa;
Knijff, Peter;
Tyler ‐ Smith, Chris;
Jobling, Mark A.

Publication type:

Article

The UMD- APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 532, doi. 10.1002/humu.22539

By:

Grandval, Philippe;
Blayau, Martine;
Buisine, Marie ‐ Pierre;
Coulet, Florence;
Maugard, Christine;
Pinson, Stéphane;
Remenieras, Audrey;
Tinat, Julie;
Uhrhammer, Nancy;
Béroud, Christophe;
Olschwang, Sylviane

Publication type:

Article

The Mechanism by which TATA-Box Polymorphisms Associated with Human Hereditary Diseases Influence Interactions with the TATA-Binding Protein.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 601, doi. 10.1002/humu.22535

By:

Drachkova, Irina;
Savinkova, Ludmila;
Arshinova, Tatyana;
Ponomarenko, Mikhail;
Peltek, Sergey;
Kolchanov, Nikolay

Publication type:

Article

Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 585, doi. 10.1002/humu.22534

By:

Das, Jishnu;
Lee, Hao Ran;
Sagar, Adithya;
Fragoza, Robert;
Liang, Jin;
Wei, Xiaomu;
Wang, Xiujuan;
Mort, Matthew;
Stenson, Peter D.;
Cooper, David N.;
Yu, Haiyuan

Publication type:

Article

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538

By:

Sukalo, Maja;
Fiedler, Ariane;
Guzmán, Celina;
Spranger, Stephanie;
Addor, Marie ‐ Claude;
Mcheik, Jiad N.;
Oltra Benavent, Manuel;
Cobben, Jan M.;
Gillis, Lynette A.;
Shealy, Amy G.;
Deshpande, Charu;
Bozorgmehr, Bita;
Everman, David B.;
Stattin, Eva ‐ Lena;
Liebelt, Jan;
Keller, Klaus ‐ Michael;
Bertola, Débora Romeo;
Karnebeek, Clara D.M.;
Bergmann, Carsten;
Liu, Zhifeng

Publication type:

Article

A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 618, doi. 10.1002/humu.22545

By:

Imtiaz, Ayesha;
Kohrman, David C.;
Naz, Sadaf

Publication type:

Article

A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 625, doi. 10.1002/humu.22541

By:

Dong, Zirui;
Jiang, Lupin;
Yang, Chuanchun;
Hu, Hua;
Wang, Xiuhua;
Chen, Haixiao;
Choy, Kwong Wai;
Hu, Huamei;
Dong, Yanling;
Hu, Bin;
Xu, Juchun;
Long, Yang;
Cao, Sujie;
Chen, Hui;
Wang, Wen ‐ Jing;
Jiang, Hui;
Xu, Fengping;
Yao, Hong;
Xu, Xun;
Liang, Zhiqing

Publication type:

Article