Clinical and molecular characterization of a de novo 19p13.3 microdeletion

[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.