Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Parisa Razaz"'
Autor:
Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)
Abstract Background MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies ha
Externí odkaz:
https://doaj.org/article/b709c64d351049a6a80897cdee6396b8
Autor:
Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. de Esch, Ryan L. Collins, Benjamin B. Currall, Kathryn O’Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendran, Alexei Stortchevoi, Elisabetta Morini, Weiyuan Ma, Diane Lucente, Alex Hastie, Raymond J. Kelleher, Roy H. Perlis, Michael E. Talkowski, James F. Gusella
Publikováno v:
Am J Hum Genet
Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically d
Autor:
Thomas Arbogast, Christelle Golzio, R. M. Henkelman, William C. Wetsel, Parisa Razaz, Benjamin Currall, Jacob Ellegood, Serkan Erdin, Lily R. Qiu, Ramona M. Rodriguiz, Spencer U. McKinstry, Jason P. Lerch, Michael E. Talkowski, Tanya Aneichyk, Nicholas Katsanis
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2019, 28 (9), pp.1474-1486. ⟨10.1093/hmg/ddy436⟩
Hum Mol Genet
Human Molecular Genetics, 2019, 28 (9), pp.1474-1486. ⟨10.1093/hmg/ddy436⟩
Hum Mol Genet
The 16p11.2 BP4-BP5 deletion and duplication syndromes are associated with a complex spectrum of neurodevelopmental phenotypes that includes developmental delay and autism spectrum disorder, with a reciprocal effect on head circumference, brain struc
Autor:
Joseph E, Tym, Costas, Mitsopoulos, Elizabeth A, Coker, Parisa, Razaz, Amanda C, Schierz, Albert A, Antolin, Bissan, Al-Lazikani
Publikováno v:
Nucleic Acids Research
canSAR (http://cansar.icr.ac.uk) is a publicly available, multidisciplinary, cancer-focused knowledgebase developed to support cancer translational research and drug discovery. canSAR integrates genomic, protein, pharmacological, drug and chemical da
Publikováno v:
Cancer Research. 74:4164-4164
Cancer drug attrition rates in the clinic continue to be unacceptably high (1). As most failures are due to lack of observed efficacy, greater focus is being placed on target validation (1), which in turn is driving drug discovery efforts towards saf
Autor:
Clemer Abad, Derek J. C. Tai, Yu An, Serkan Erdin, Catarina M. Seabra, Parisa Razaz, Ashok Ragavendran, Patrícia Maciel, Poornima Manavalan, Celine E. F. De Esch, James F. Gusella, Tatsiana Aneichyk, Alexei Stortchevoi, Michael E. Talkowski, Juan I. Young
Publikováno v:
Molecular Autism
Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)
Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)
Background MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies have direct