Robinson PN - Search Results

1

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.

Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S. Hecht J, et al. Among authors: robinson pn. Gene Expr Patterns. 2007 Jan;7(1-2):102-12. doi: 10.1016/j.modgep.2006.05.014. Epub 2006 Jun 6. Gene Expr Patterns. 2007. PMID: 16829211

2

The human phenotype ontology.

Robinson PN, Mundlos S. Robinson PN, et al. Clin Genet. 2010 Jun;77(6):525-34. doi: 10.1111/j.1399-0004.2010.01436.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20412080 Review.

3

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

4

TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.

Dziubianau M, Hecht J, Kuchenbecker L, Sattler A, Stervbo U, Rödelsperger C, Nickel P, Neumann AU, Robinson PN, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N. Dziubianau M, et al. Among authors: robinson pn. Am J Transplant. 2013 Nov;13(11):2842-54. doi: 10.1111/ajt.12431. Epub 2013 Sep 10. Am J Transplant. 2013. PMID: 24020931 Free article.

5

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152

6

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A. Olech EM, et al. Among authors: robinson pn. Pol J Pathol. 2016 Mar;67(1):78-83. doi: 10.5114/pjp.2016.59480. Pol J Pathol. 2016. PMID: 27179278 Free article.

7

Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy.

Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K, Ensminger S, Robinson PN, Wagner AH, Karck M, Kallenbach K. Seppelt PC, et al. Among authors: robinson pn. PLoS One. 2016 Feb 3;11(2):e0148012. doi: 10.1371/journal.pone.0148012. eCollection 2016. PLoS One. 2016. PMID: 26840980 Free PMC article.

8

Genomic data sharing for translational research and diagnostics.

Robinson PN. Robinson PN. Genome Med. 2014 Sep 26;6(9):78. doi: 10.1186/s13073-014-0078-2. eCollection 2014. Genome Med. 2014. PMID: 25473437 Free PMC article.

9

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H. Ghani-Kakhki M, et al. Among authors: robinson pn. Mol Syndromol. 2012 Jun;3(1):6-13. doi: 10.1159/000338975. Epub 2012 Jun 13. Mol Syndromol. 2012. PMID: 22855649 Free PMC article.

10

Pseudoautosomal region 1 length polymorphism in the human population.

Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR. Mensah MA, et al. Among authors: robinson pn. PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25375121 Free PMC article.

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