Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 4

Results: 22

Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 595, doi. 10.1002/humu.22276
By:
- Court, Franck;
- Martin‐Trujillo, Alex;
- Romanelli, Valeria;
- Garin, Intza;
- Iglesias‐Platas, Isabel;
- Salafsky, Ira;
- Guitart, Miriam;
- Perez de Nanclares, Guiomar;
- Lapunzina, Pablo;
- Monk, David
Publication type:
Article
Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 610, doi. 10.1002/humu.22287
By:
- Gottlieb, Bruce;
- Alvarado, Carlos;
- Wang, Chunlin;
- Gharizadeh, Baback;
- Babrzadeh, Farbod;
- Richards, Brent;
- Batist, Gerald;
- Basik, Mark;
- Beitel, Lenore K.;
- Trifiro, Mark
Publication type:
Article
A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 578, doi. 10.1002/humu.22271
By:
- Farooq, Muhammad;
- Kurban, Mazen;
- Fujimoto, Atsushi;
- Fujikawa, Hiroki;
- Abbas, Ossama;
- Nemer, Georges;
- Saliba, Jessica;
- Sleiman, Rima;
- Tofaili, Mona;
- Kibbi, Abdul‐Ghani;
- Ito, Masaaki;
- Shimomura, Yutaka
Publication type:
Article
Novel Germline GJA5/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 603, doi. 10.1002/humu.22278
By:
- Sun, Yiguo;
- Yang, Yi‐Qing;
- Gong, Xiang‐Qun;
- Wang, Xin‐Hua;
- Li, Ruo‐Gu;
- Tan, Hong‐Wei;
- Liu, Xu;
- Fang, Wei‐Yi;
- Bai, Donglin
Publication type:
Article
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282
By:
- Klar, Joakim;
- Sobol, Maria;
- Melberg, Atle;
- Mäbert, Katrin;
- Ameur, Adam;
- Johansson, Anna C.V.;
- Feuk, Lars;
- Entesarian, Miriam;
- Örlén, Hanna;
- Casar‐Borota, Olivera;
- Dahl, Niklas
Publication type:
Article
Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 587, doi. 10.1002/humu.22275
By:
- Bornholdt, Dorothea;
- Atkinson, T. Prescott;
- Bouadjar, Bakar;
- Catteau, Benoit;
- Cox, Helen;
- Silva, Deepthi;
- Fischer, Judith;
- Gunasekera, Chalukya N.;
- Hadj‐Rabia, Smaïl;
- Happle, Rudolf;
- Holder‐Espinasse, Muriel;
- Kaminski, Elke;
- König, Arne;
- Mégarbané, André;
- Mégarbané, Hala;
- Neidel, Ulrike;
- Oeffner, Frank;
- Oji, Vinzenz;
- Theos, Amy;
- Traupe, Heiko
Publication type:
Article
A Deletion Mutation in TMEM38 B Associated with Autosomal Recessive Osteogenesis Imperfecta.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 582, doi. 10.1002/humu.22274
By:
- Volodarsky, Michael;
- Markus, Barak;
- Cohen, Idan;
- Staretz‐Chacham, Orna;
- Flusser, Hagit;
- Landau, Daniella;
- Shelef, Ilan;
- Langer, Yshaia;
- Birk, Ohad S.
Publication type:
Article
In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. v, doi. 10.1002/humu.22183
By:
- Yu, Bing
Publication type:
Article
Audio Gene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 539, doi. 10.1002/humu.22268
By:
- Taylor, Kyle R.;
- DeLuca, Adam P.;
- Shearer, A. Eliot;
- Hildebrand, Michael S.;
- Black‐Ziegelbein, E. Ann;
- Anand, V. Nikhil;
- Sloan, Christina M.;
- Eppsteiner, Robert W.;
- Scheetz, Todd E.;
- Huygen, Patrick L. M.;
- Smith, Richard J. H.;
- Braun, Terry A.;
- Casavant, Thomas L.
Publication type:
Article
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 661, doi. 10.1002/humu.22293
By:
- Oetting, William S.;
- Robinson, Peter N.;
- Greenblatt, Marc S.;
- Cotton, Richard G.;
- Beck, Tim;
- Carey, John C.;
- Doelken, Sandra C.;
- Girdea, Marta;
- Groza, Tudor;
- Hamilton, Carol M.;
- Hamosh, Ada;
- Kerner, Berit;
- MacArthur, Jacqueline A. L.;
- Maglott, Donna R.;
- Mons, Barend;
- Rehm, Heidi L.;
- Schofield, Paul N.;
- Searle, Beverly A.;
- Smedley, Damian;
- Smith, Cynthia L.
Publication type:
Article
Genotyping by Induced Förster Resonance Energy Transfer (i FRET) Mechanism and Simultaneous Mutation Scanning.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 636, doi. 10.1002/humu.22281
By:
- Masojć, Bartłomiej;
- Górski, Bohdan;
- van de Wetering, Thierry;
- Dębniak, Tadeusz;
- Cybulski, Cezary;
- Jakubowska, Anna;
- Mędrek, Krzysztof;
- Rudnicka, Helena;
- Dwight, Zachary Lawrence;
- Lubiński, Jan
Publication type:
Article
Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 655, doi. 10.1002/humu.22286
By:
- Chen, Yi‐Chen;
- Chien, Yin‐Hsiu;
- Chen, Pin‐Wen;
- Leung‐Sang Tang, Nelson;
- Chiu, Pao‐Chin;
- Hwu, Wuh‐Liang;
- Lee, Ni‐Chung
Publication type:
Article
Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 656, doi. 10.1002/humu.22285
By:
- Pasquali, Marzia;
- Longo, Nicola
Publication type:
Article
From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. v, doi. 10.1002/humu.22182
By:
- Mooney, Sean
Publication type:
Article
HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 657, doi. 10.1002/humu.22270
By:
- Gonzaludo, Nina;
- Zheng, Hong‐Xiang;
- Wang, Jiucun;
- Chanock, Stephen J.;
- Jin, Li;
- Scherer, Stephen;
- Wijmenga, Cisca;
- Kwok, Pui‐Yan;
- Brookes, Anthony J.
Publication type:
Article
DIP- STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 644, doi. 10.1002/humu.22280
By:
- Castella, Vincent;
- Gervaix, Joëlle;
- Hall, Diana
Publication type:
Article
RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 546, doi. 10.1002/humu.22273
By:
- Sabarinathan, Radhakrishnan;
- Tafer, Hakim;
- Seemann, Stefan E.;
- Hofacker, Ivo L.;
- Stadler, Peter F.;
- Gorodkin, Jan
Publication type:
Article
Heterozygous Genetic Variations of FOXP3 in Xp11.23 Elevate Breast Cancer Risk in Chinese Population via Skewed X-Chromosome Inactivation.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 619, doi. 10.1002/humu.22284
By:
- Zheng, Jian;
- Deng, Jieqiong;
- Jiang, Lan;
- Yang, Lei;
- You, Yonghe;
- Hu, Min;
- Li, Na;
- Wu, Hongchun;
- Li, Wei;
- Li, Hongbin;
- Lu, Jiachun;
- Zhou, Yifeng
Publication type:
Article
Prediction of Mutant m RNA Splice Isoforms by Information Theory-Based Exon Definition.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 557, doi. 10.1002/humu.22277
By:
- Mucaki, Eliseos J.;
- Shirley, Ben C.;
- Rogan, Peter K.
Publication type:
Article
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290
By:
- Lynch, Danielle C.;
- Dyment, David A.;
- Huang, Lijia;
- Nikkel, Sarah M.;
- Lacombe, Didier;
- Campeau, Philippe M.;
- Lee, Brendan;
- Bacino, Carlos A.;
- Michaud, Jacques L.;
- Bernier, Francois P.;
- Consortium, FORGE Canada;
- Parboosingh, Jillian S.;
- Innes, A. Micheil
Publication type:
Article
Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 629, doi. 10.1002/humu.22272
By:
- Costa, José Luis;
- Sousa, Sónia;
- Justino, Ana;
- Kay, Teresa;
- Fernandes, Susana;
- Cirnes, Luis;
- Schmitt, Fernando;
- Machado, José Carlos
Publication type:
Article
Pheno DB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 566, doi. 10.1002/humu.22283
By:
- Hamosh, Ada;
- Sobreira, Nara;
- Hoover‐Fong, Julie;
- Sutton, V. Reid;
- Boehm, Corinne;
- Schiettecatte, François;
- Valle, David
Publication type:
Article