Clinical and molecular characterization of a de novo 19p13.3 microdeletion
暂无分享,去创建一个
M. Carella | L. Zelante | O. Palumbo | R. Stallone | P. Palumbo | M. Leone | T. Palladino
[1] Z. Nawaz,et al. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. , 2015, Cell reports.
[2] Y. Kuroda,et al. Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features , 2015, American journal of medical genetics. Part A.
[3] D. Stephan,et al. Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes , 2015, International journal of molecular sciences.
[4] Juan I. Young,et al. Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome , 2014, EMBO molecular medicine.
[5] P. Stankiewicz,et al. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis , 2013, American journal of medical genetics. Part A.
[6] A. Andriulli,et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. , 2013, Digestive and Liver Disease.
[7] T. Shintani,et al. Directional Neuronal Migration Is Impaired in Mice Lacking Adenomatous Polyposis Coli 2 , 2012, The Journal of Neuroscience.
[8] J. Rosenfeld,et al. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome , 2011, Genetics and molecular biology.
[9] M. Malumbres,et al. Plk5, a Polo Box Domain-Only Protein with Specific Roles in Neuron Differentiation and Glioblastoma Suppression , 2011, Molecular and Cellular Biology.
[10] T. Shintani,et al. APC2 plays an essential role in the axonal projection through the regulation of microtubule stability , 2009, Neuroscience Research.
[11] H. Sakuta,et al. APC2 Plays an Essential Role in Axonal Projections through the Regulation of Microtubule Stability , 2009, The Journal of Neuroscience.
[12] David M. Glover,et al. Polo-like kinases: conservation and divergence in their functions and regulation , 2009, Nature Reviews Molecular Cell Biology.
[13] C. Lese-Martin,et al. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3‐pter , 2005, American journal of medical genetics. Part A.
[14] Terrence S. Furey,et al. The DNA sequence and biology of human chromosome 19 , 2004, Nature.
[15] H. Suemori,et al. Novel nucleolar protein, midnolin, is expressed in the mesencephalon during mouse development. , 2000, Gene.
[16] J. Grosgeorge,et al. Cloning, chromosal mapping, and tissue expression of the gene encoding the human Eph-family kinase ligand ephrin-A2. , 1998, Biochemical and biophysical research communications.
[17] Y. Nakamura,et al. Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin. , 1998, Cancer research.
[18] S. Singh,et al. Gall-bladder polyps in Peutz-Jeghers syndrome. , 1980, Postgraduate medical journal.
[19] D. Chen,et al. Ephrin-A2 and -A3 are negative regulators of the regenerative potential of Möller cells. , 2014, Chinese medical journal.