Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 8

Results: 19

Mutations in the COPII Vesicle Component Gene SEC24B are Associated with Human Neural Tube Defects.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1094, doi. 10.1002/humu.22338
By:
- Yang, Xue‐Yan;
- Zhou, Xiang‐Yu;
- Wang, Qing Qing;
- Li, Hong;
- Chen, Ying;
- Lei, Yun‐Ping;
- Ma, Xiao‐Hang;
- Kong, Pan;
- Shi, Yan;
- Jin, Li;
- Zhang, Ting;
- Wang, Hong‐Yan
Publication type:
Article
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342
By:
- Sarkozy, Anna;
- Hicks, Debbie;
- Hudson, Judith;
- Laval, Steve H.;
- Barresi, Rita;
- Hilton‐Jones, David;
- Deschauer, Marcus;
- Harris, Elizabeth;
- Rufibach, Laura;
- Hwang, Esther;
- Bashir, Rumaisa;
- Walter, Maggie C.;
- Krause, Sabine;
- Bergh, Peter;
- Illa, Isabel;
- Pénisson‐Besnier, Isabelle;
- Waele, Liesbeth;
- Turnbull, Doug;
- Guglieri, Michela;
- Schrank, Bertold
Publication type:
Article
Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1080, doi. 10.1002/humu.22353
By:
- Ishmukhametova, Aliya;
- Chen, Jian‐Min;
- Bernard, Rafaëlle;
- Massy, Bernard;
- Baudat, Frédéric;
- Boyer, Amandine;
- Méchin, Déborah;
- Thorel, Delphine;
- Chabrol, Brigitte;
- Vincent, Marie‐Claire;
- Khau Van Kien, Philippe;
- Claustres, Mireille;
- Tuffery‐Giraud, Sylvie
Publication type:
Article
Molecular Characterization of Carbamoyl-Phosphate Synthetase ( CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1149, doi. 10.1002/humu.22349
By:
- Diez‐Fernandez, Carmen;
- Martínez, Ana I.;
- Pekkala, Satu;
- Barcelona, Belén;
- Pérez‐Arellano, Isabel;
- Guadalajara, Ana María;
- Summar, Marshall;
- Cervera, Javier;
- Rubio, Vicente
Publication type:
Article
High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1071, doi. 10.1002/humu.22344
By:
- Wang, Liyong;
- Nuytemans, Karen;
- Bademci, Guney;
- Jauregui, Cherylyn;
- Martin, Eden R.;
- Scott, William K.;
- Vance, Jeffery M.;
- Zuchner, Stephan
Publication type:
Article
Prioritization of Genetic Variants in the micro RNA Regulome as Functional Candidates in Genome-Wide Association Studies.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1049, doi. 10.1002/humu.22337
By:
- Bulik‐Sullivan, Brendan;
- Selitsky, Sara;
- Sethupathy, Praveen
Publication type:
Article
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1160, doi. 10.1002/humu.22348
By:
- Giorgio, Elisa;
- Rolyan, Harshvardhan;
- Kropp, Laura;
- Chakka, Anish Baswanth;
- Yatsenko, Svetlana;
- Gregorio, Eleonora Di;
- Lacerenza, Daniela;
- Vaula, Giovanna;
- Talarico, Flavia;
- Mandich, Paola;
- Toro, Camilo;
- Pierre, Eleonore Eymard;
- Labauge, Pierre;
- Capellari, Sabina;
- Cortelli, Pietro;
- Vairo, Filippo Pinto;
- Miguel, Diego;
- Stubbolo, Danielle;
- Marques, Lourenco Charles;
- Gahl, William
Publication type:
Article
A Polymorphism Affecting MYB Binding within the Promoter of the PDCD4 Gene is Associated with Severe Asthma in Children.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1131, doi. 10.1002/humu.22340
By:
- Binia, Aristea;
- Van Stiphout, Nicole;
- Liang, Liming;
- Michel, Sven;
- Bhavsar, Pankaj K.;
- Fan Chung, K.;
- Brightling, Chris E.;
- Barnes, Peter J.;
- Kabesch, Michael;
- Bush, Andrew;
- Cookson, William O.C.;
- Moffatt, Miriam F.
Publication type:
Article
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy- Walker Malformation and Occipital Cephaloceles.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1075, doi. 10.1002/humu.22351
By:
- Darbro, Benjamin W.;
- Mahajan, Vinit B.;
- Gakhar, Lokesh;
- Skeie, Jessica M.;
- Campbell, Elizabeth;
- Wu, Shu;
- Bing, Xinyu;
- Millen, Kathleen J.;
- Dobyns, William B.;
- Kessler, John A.;
- Jalali, Ali;
- Cremer, James;
- Segre, Alberto;
- Manak, J. Robert;
- Aldinger, Kimerbly A.;
- Suzuki, Satoshi;
- Natsume, Nagato;
- Ono, Maya;
- Hai, Huynh Dai;
- Viet, Le Thi
Publication type:
Article
Correction of Cystathionine β-Synthase Deficiency in Mice by Treatment with Proteasome Inhibitors.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1085, doi. 10.1002/humu.22335
By:
- Gupta, Sapna;
- Wang, Liqun;
- Anderl, Janet;
- Slifker, Michael J.;
- Kirk, Christopher;
- Kruger, Warren D.
Publication type:
Article
Non-Coding Sequence Variation Effects on Tissue-Specific Gene Expression.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. v, doi. 10.1002/humu.22193
By:
- Heyningen, Veronica
Publication type:
Article
Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi- Goutières Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1066, doi. 10.1002/humu.22336
By:
- Rice, Gillian I.;
- Reijns, Martin A.M.;
- Coffin, Stephanie R.;
- Forte, Gabriella M.A.;
- Anderson, Beverley H.;
- Szynkiewicz, Marcin;
- Gornall, Hannah;
- Gent, David;
- Leitch, Andrea;
- Botella, Maria P.;
- Fazzi, Elisa;
- Gener, Blanca;
- Lagae, Lieven;
- Olivieri, Ivana;
- Orcesi, Simona;
- Swoboda, Kathryn J.;
- Perrino, Fred W.;
- Jackson, Andrew P.;
- Crow, Yanick J.
Publication type:
Article
Next Generation Genetic Testing for Retinitis Pigmentosa.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1181, doi. 10.1002/humu.22357
By:
- Neveling, Kornelia;
- Collin, Rob W.J.;
- Gilissen, Christian;
- Huet, Ramon A.C.;
- Visser, Linda;
- Kwint, Michael P.;
- Gijsen, Sabine J.;
- Zonneveld, Marijke N.;
- Wieskamp, Nienke;
- Ligt, Joep;
- Siemiatkowska, Anna M.;
- Hoefsloot, Lies H.;
- Buckley, Michael F.;
- Kellner, Ulrich;
- Branham, Kari E.;
- den Hollander, Anneke I.;
- Hoischen, Alexander;
- Hoyng, Carel;
- Klevering, B. Jeroen;
- Born, L. Ingeborgh
Publication type:
Article
Analysis of Sequence Variation Underlying Tissue-specific Transcription Factor Binding and Gene Expression.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1140, doi. 10.1002/humu.22343
By:
- Lower, Karen M.;
- De Gobbi, Marco;
- Hughes, Jim R.;
- Derry, Christopher J.;
- Ayyub, Helena;
- Sloane‐Stanley, Jacqueline A.;
- Vernimmen, Douglas;
- Garrick, David;
- Gibbons, Richard J.;
- Higgs, Douglas R.
Publication type:
Article
Understanding Tandem Base Substitutions.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. v, doi. 10.1002/humu.22192
By:
- Patrinos, George P.
Publication type:
Article
Pheno Tips: Patient Phenotyping Software for Clinical and Research Use.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1057, doi. 10.1002/humu.22347
By:
- Girdea, Marta;
- Dumitriu, Sergiu;
- Fiume, Marc;
- Bowdin, Sarah;
- Boycott, Kym M.;
- Chénier, Sébastien;
- Chitayat, David;
- Faghfoury, Hanna;
- Meyn, M. Stephen;
- Ray, Peter N.;
- So, Joyce;
- Stavropoulos, Dimitri J.;
- Brudno, Michael
Publication type:
Article
Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1119, doi. 10.1002/humu.22341
By:
- Chen, Jian‐Min;
- Férec, Claude;
- Cooper, David N.
Publication type:
Article
Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1172, doi. 10.1002/humu.22352
By:
- Maupetit‐Méhouas, Stéphanie;
- Azzi, Salah;
- Steunou, Virginie;
- Sakakini, Nathalie;
- Silve, Caroline;
- Reynes, Christelle;
- Perez de Nanclares, Guiomar;
- Keren, Boris;
- Chantot, Sandra;
- Barlier, Anne;
- Linglart, Agnès;
- Netchine, Irène
Publication type:
Article
Cytoplasmic Mislocalization of POU3 F4 Due to Novel Mutations Leads to Deafness in Humans and Mice.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1102, doi. 10.1002/humu.22339
By:
- Parzefall, Thomas;
- Shivatzki, Shaked;
- Lenz, Danielle R.;
- Rathkolb, Birgit;
- Ushakov, Kathy;
- Karfunkel, Daphne;
- Shapira, Yisgav;
- Wolf, Michael;
- Mohr, Manuela;
- Wolf, Eckhard;
- Sabrautzki, Sibylle;
- de Angelis, Martin Hrabé;
- Frydman, Moshe;
- Brownstein, Zippora;
- Avraham, Karen B.
Publication type:
Article