Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 9

Results: 20

Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1289, doi. 10.1002/humu.22363

By:

Chen, Holly Y.;
Huang, Wei;
Leung, Vincent H. K.;
Fung, Simon L. M.;
Ma, Suk Ling;
Jiang, Hongling;
Tang, Nelson L. S.

Publication type:

Article

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ( MMCAT) Is Caused by Mutations in ADAMTS18.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1195, doi. 10.1002/humu.22374

By:

Aldahmesh, Mohammed A.;
Alshammari, Muneera J.;
Khan, Arif O.;
Mohamed, Jawahir Y.;
Alhabib, Fatimah A.;
Alkuraya, Fowzan S.

Publication type:

Article

HAPLOFIND: A New Method for High-Throughput mt DNA Haplogroup Assignment.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1189, doi. 10.1002/humu.22356

By:

Vianello, Dario;
Sevini, Federica;
Castellani, Gastone;
Lomartire, Laura;
Capri, Miriam;
Franceschi, Claudio

Publication type:

Article

Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. iv, doi. 10.1002/humu.22194

By:

Friedlander, Terence

Publication type:

Article

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1279, doi. 10.1002/humu.22362

By:

Barnes, Aileen M.;
Duncan, Geraldine;
Weis, MaryAnn;
Paton, William;
Cabral, Wayne A.;
Mertz, Edward L.;
Makareeva, Elena;
Gambello, Michael J.;
Lacbawan, Felicitas L.;
Leikin, Sergey;
Fertala, Andrzej;
Eyre, David R.;
Bale, Sherri J.;
Marini, Joan C.

Publication type:

Article

Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1208, doi. 10.1002/humu.22373

By:

Quadri, Marialuisa;
Fang, Mingyan;
Picillo, Marina;
Olgiati, Simone;
Breedveld, Guido J.;
Graafland, Josja;
Wu, Bin;
Xu, Fengping;
Erro, Roberto;
Amboni, Marianna;
Pappatà, Sabina;
Quarantelli, Mario;
Annesi, Grazia;
Quattrone, Aldo;
Chien, Hsin F.;
Barbosa, Egberto R.;
Oostra, Ben A.;
Barone, Paolo;
Wang, Jun;
Bonifati, Vincenzo

Publication type:

Article

0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1298, doi. 10.1002/humu.22355

By:

Srebniak, Malgorzata I.;
Mout, Lisanne;
Van Opstal, Diane;
Galjaard, Robert‐Jan H.

Publication type:

Article

Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1226, doi. 10.1002/humu.22366

By:

Chang, Sheng‐Wei;
Mislankar, Mona;
Misra, Chaitali;
Huang, Nianyuan;
DaJusta, Daniel G.;
Harrison, Steven M.;
McBride, Kim L.;
Baker, Linda A.;
Garg, Vidu

Publication type:

Article

Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358

By:

Blakely, Emma L.;
Yarham, John W.;
Alston, Charlotte L.;
Craig, Kate;
Poulton, Joanna;
Brierley, Charlotte;
Park, Soo‐Mi;
Dean, Andrew;
Xuereb, John H.;
Anderson, Kirstie N.;
Compston, Alistair;
Allen, Chris;
Sharif, Saba;
Enevoldson, Peter;
Wilson, Martin;
Hammans, Simon R.;
Turnbull, Douglass M.;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1304, doi. 10.1002/humu.22359

By:

Guilmatre, Audrey;
Highnam, Gareth;
Borel, Christelle;
Mittelman, David;
Sharp, Andrew J.

Publication type:

Article

Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1269, doi. 10.1002/humu.22361

By:

Keck, Mathilde;
Andrini, Olga;
Lahuna, Olivier;
Burgos, Johanna;
Cid, L. Pablo;
Sepúlveda, Francisco V.;
L‘Hoste, Sébastien;
Blanchard, Anne;
Vargas‐Poussou, Rosa;
Lourdel, Stéphane;
Teulon, Jacques

Publication type:

Article

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1183, doi. 10.1002/humu.22364

By:

Bean, Lora J.H.;
Tinker, Stuart W.;
Silva, Cristina;
Hegde, Madhuri R.

Publication type:

Article

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1216, doi. 10.1002/humu.22375

By:

Cassa, Christopher A.;
Tong, Mark Y.;
Jordan, Daniel M.

Publication type:

Article

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. E2393, doi. 10.1002/humu.22376

By:

Liu, Xiaoming;
Jian, Xueqiu;
Boerwinkle, Eric

Publication type:

Article

Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser- Winter Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1242, doi. 10.1002/humu.22350

By:

Johnston, Jennifer J.;
Wen, Kuo‐Kuang;
Keppler‐Noreuil, Kim;
McKane, Melissa;
Maiers, Jessica L.;
Greiner, Alexander;
Sapp, Julie C.;
DeMali, Kris A.;
Rubenstein, Peter A.;
Biesecker, Leslie G.

Publication type:

Article

Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1221, doi. 10.1002/humu.22360

By:

Singh, Rajvir;
Smith, Emily;
Fathzadeh, Mohsen;
Liu, Wenzhong;
Go, Gwang‐Woong;
Subrahmanyan, Lakshman;
Faramarzi, Saeed;
McKenna, William;
Mani, Arya

Publication type:

Article

The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1200, doi. 10.1002/humu.22372

By:

Krebs, Catharine E.;
Karkheiran, Siamak;
Powell, James C.;
Cao, Mian;
Makarov, Vladimir;
Darvish, Hossein;
Di Paolo, Gilbert;
Walker, Ruth H.;
Shahidi, Gholam Ali;
Buxbaum, Joseph D.;
De Camilli, Pietro;
Yue, Zhenyu;
Paisán‐Ruiz, Coro

Publication type:

Article

Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1250, doi. 10.1002/humu.22354

By:

Tan, Xiaohui;
Anzick, Sarah L.;
Khan, Sikandar G.;
Ueda, Takahiro;
Stone, Gary;
DiGiovanna, John J.;
Tamura, Deborah;
Wattendorf, Daniel;
Busch, David;
Brewer, Carmen C.;
Zalewski, Christopher;
Butman, John A.;
Griffith, Andrew J.;
Meltzer, Paul S.;
Kraemer, Kenneth H.

Publication type:

Article

Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1231, doi. 10.1002/humu.22346

By:

Nickerson, Michael L.;
Im, Kate M.;
Misner, Kevin J.;
Tan, Wei;
Lou, Hong;
Gold, Bert;
Wells, David W.;
Bravo, Hector C.;
Fredrikson, Karin M.;
Harkins, Timothy T.;
Milos, Patrice;
Zbar, Berton;
Linehan, W. Marston;
Yeager, Meredith;
Andresson, Thorkell;
Dean, Michael;
Bova, G. Steven

Publication type:

Article

A Disruptive Paradigm of Genetic Data Sharing and Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. iv, doi. 10.1002/humu.22195

By:

Cotton, Richard

Publication type:

Article