Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 4

Results: 25

Actin out with filamin: Two sides of the story.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 5, doi. 10.1002/humu.22572

By:

Hu, Jianjun;
Sheen, Volney

Publication type:

Article

Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 655, doi. 10.1002/humu.22040

By:

Ryu, Jihye;
Lee, Chaeyoung

Publication type:

Article

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 728, doi. 10.1002/humu.22037

By:

Lamb, Allen N.;
Rosenfeld, Jill A.;
Neill, Nicholas J.;
Talkowski, Michael E.;
Blumenthal, Ian;
Girirajan, Santhosh;
Keelean-Fuller, Debra;
Fan, Zheng;
Pouncey, Jill;
Stevens, Cathy;
Mackay-Loder, Loren;
Terespolsky, Deborah;
Bader, Patricia I.;
Rosenbaum, Kenneth;
Vallee, Stephanie E.;
Moeschler, John B.;
Ladda, Roger;
Sell, Susan;
Martin, Judith;
Ryan, Shawnia

Publication type:

Article

Detecting false-positive signals in exome sequencing.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033

By:

Fuentes Fajardo, Karin V.;
Adams, David;
Mason, Christopher E.;
Sincan, Murat;
Tifft, Cynthia;
Toro, Camilo;
Boerkoel, Cornelius F;
Gahl, William;
Markello, Thomas

Publication type:

Article

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 763, doi. 10.1002/humu.22044

By:

Upadhyaya, Meena;
Spurlock, Gill;
Thomas, Laura;
Thomas, Nick S. T.;
Richards, Mark;
Mautner, Viktor-Felix;
Cooper, David N.;
Guha, Abhijit;
Yan, Jim

Publication type:

Article

Exome and whole-genome sequencing for gene discovery: The future is now!

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 591, doi. 10.1002/humu.22055

By:

Majewski, Jacek;
Rosenblatt, David S.

Publication type:

Article

Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 703, doi. 10.1002/humu.22026

By:

Ferrero, Giovanni Battista;
Picco, Gabriele;
Baldassarre, Giuseppina;
Flex, Elisabetta;
Isella, Claudio;
Cantarella, Daniela;
Corà, Davide;
Chiesa, Nicoletta;
Crescenzio, Nicoletta;
Timeus, Fabio;
Merla, Giuseppe;
Mazzanti, Laura;
Zampino, Giuseppe;
Rossi, Cesare;
Silengo, Margherita;
Tartaglia, Marco;
Medico, Enzo

Publication type:

Article

Rare germline mutations in PALB2 and breast cancer risk: A population-based study.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 674, doi. 10.1002/humu.22022

By:

Tischkowitz, Marc;
Capanu, Marinela;
Sabbaghian, Nelly;
Li, Lili;
Liang, Xiaolin;
Vallée, Maxime P.;
Tavtigian, Sean V.;
Concannon, Patrick;
Foulkes, William D.;
Bernstein, Leslie;
Bernstein, Jonine L.;
Begg, Colin B.

Publication type:

Article

Analysis of DNA sequence variants detected by high-throughput sequencing.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035

By:

Adams, David R.;
Sincan, Murat;
Fuentes Fajardo, Karin;
Mullikin, James C.;
Pierson, Tyler M.;
Toro, Camilo;
Boerkoel, Cornelius F.;
Tifft, Cynthia J.;
Gahl, William A.;
Markello, Tom C.

Publication type:

Article

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 614, doi. 10.1002/humu.22032

By:

Dias, Cristina;
Sincan, Murat;
Cherukuri, Praveen F.;
Rupps, Rosemarie;
Huang, Yan;
Briemberg, Hannah;
Selby, Kathryn;
Mullikin, James C.;
Markello, Thomas C.;
Adams, David R.;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

Assessing the Enrichment Performance in Targeted Resequencing Experiments.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 635, doi. 10.1002/humu.22036

By:

Frommolt, Peter;
Abdallah, Ali T.;
Altmüller, Janine;
Motameny, Susanne;
Thiele, Holger;
Becker, Christian;
Stemshorn, Kathryn;
Fischer, Matthias;
Freilinger, Tobias;
Nürnberg, Peter

Publication type:

Article

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 627, doi. 10.1002/humu.22029

By:

Depienne, Christel;
LeGuern, Eric

Publication type:

Article

Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 741, doi. 10.1002/humu.22031

By:

Robinson, James I.;
Carr, Ian M.;
Cooper, Dawn L.;
Rashid, Lubna H.;
Martin, Stephen G.;
Emery, Paul;
Isaacs, John D.;
Barton, Anne;
Wilson, Anthony G.;
Barrett, Jennifer H;
Morgan, Ann W.

Publication type:

Article

Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 660, doi. 10.1002/humu.22042

By:

Seifert, Wenke;
Kühnisch, Jirko;
Tüysüz, Beyhan;
Specker, Christof;
Brouwers, Ad;
Horn, Denise

Publication type:

Article

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 690, doi. 10.1002/humu.22025

By:

Ramus, Susan J.;
Antoniou, Antonis C;
Kuchenbaecker, Karoline B.;
Soucy, Penny;
Beesley, Jonathan;
Chen, Xiaoqing;
McGuffog, Lesley;
Sinilnikova, Olga M.;
Healey, Sue;
Barrowdale, Daniel;
Lee, Andrew;
Thomassen, Mads

Publication type:

Article

SEPT12 mutations cause male infertility with defective sperm annulus.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 710, doi. 10.1002/humu.22028

By:

Kuo, Yung-Che;
Lin, Ying-Hung;
Chen, Hau-Inh;
Wang, Ya-Yun;
Chiou, Yu-Wei;
Lin, Hsi-Hui;
Pan, Hsien-An;
Wu, Ching-Ming;
Su, Shih-Ming;
Hsu, Chao-Chin;
Kuo, Pao-Lin

Publication type:

Article

KMD: Korean mutation database for genes related to diseases.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. E2332, doi. 10.1002/humu.22039

By:

Park, Mi-Hyun;
Koo, Soo Kyung;
Lee, Jin-Sung;
Yoo, Han-Wook;
Kim, Jong-Won;
Cheong, Hae Il;
Park, Hyun-Young

Publication type:

Article

KMD: A country-specific genetic variation resource for Korea.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 5, doi. 10.1002/humu.22573

By:

Smith,, Timothy David

Publication type:

Article

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 720, doi. 10.1002/humu.22030

By:

Tan, Huay L.;
Glen, Elise;
Töpf, Ana;
Hall, Darroch;
O'Sullivan, John J;
Sneddon, Linda;
Wren, Christopher;
Avery, Peter;
Lewis, Richard J.;
ten Dijke, Peter;
Arthur, Helen M.;
Goodship, Judith A.;
Keavney, Bernard D.

Publication type:

Article

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 750, doi. 10.1002/humu.22041

By:

Arlanov, Rudolf;
Porter, Andrew;
Strand, Dennis;
Brough, Rachel;
Karpova, Darja;
Kerb, Reinhold;
Wojnowski, Leszek;
Schwab, Matthias;
Lang, Thomas

Publication type:

Article

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012

By:

Daniel, Philip B.;
Morgan, Tim;
Alanay, Yasemin;
Bijlsma, Emilia;
Cho, Tae-Joon;
Cole, Trevor;
Collins, Felicity;
David, Albert;
Devriendt, Koen;
Faivre, Laurence;
Ikegawa, Shiro;
Jacquemont, Sebastien;
Jesic, Milos;
Krakow, Deborah;
Liebrecht, Daniela;
Maitz, Silvia;
Marlin, Sandrine;
Morin, Gilles;
Nishikubo, Toshiya;
Nishimura, Gen

Publication type:

Article

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 681, doi. 10.1002/humu.22023

By:

Gutiérrez Cortés, Nicolás;
Pertuiset, Claire;
Dumon, Elodie;
Börlin, Marine;
Hebert-Chatelain, Etienne;
Pierron, Denis;
Feldmann, Delphine;
Jonard, Laurence;
Marlin, Sandrine;
Letellier, Thierry;
Rocher, Christophe

Publication type:

Article

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 593, doi. 10.1002/humu.22034

By:

Sincan, Murat;
Simeonov, Dimitre R;
Adams, David;
Markello, Thomas C.;
Pierson, Tyler M.;
Toro, Camilo;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 651, doi. 10.1002/humu.22027

By:

Kitazawa, Sohei;
Kondo, Takeshi;
Mori, Kiyoshi;
Yokoyama, Naoki;
Matsuo, Masafumi;
Kitazawa, Riko

Publication type:

Article

Classification of mismatch repair gene missense variants with PON-MMR.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 642, doi. 10.1002/humu.22038

By:

Ali, Heidi;
Olatubosun, Ayodeji;
Vihinen, Mauno

Publication type:

Article