Peter N. Robinson

发表

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis

P. Robinson, P. Nürnberg, P. Booms, 1998, Electrophoresis.

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

P. Robinson, D. Horn, P. Nürnberg, 1996, Electrophoresis.

Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

P. Robinson, R. Neumann, P. Nürnberg, 1996, Human mutation.

The molecular genetics of Marfan syndrome and related disorders

P. Robinson, D. Milewicz, D. Judge, 2006, Journal of Medical Genetics.

Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51)

P. Robinson, M. Jäger, V. Vanita, 2016, Clinical genetics.

TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell–Related Pathology

P. Robinson, S. Mundlos, C. Rödelsperger, 2013, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

The new Ghent criteria for Marfan syndrome: what do they change?

E. Arbustini, U. Francke, C. Béroud, 2012, Clinical genetics.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

E. Arbustini, U. Francke, D. Halliday, 2008, Journal of Medical Genetics.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

P. Robinson, T. Rosenberg, C. Nienaber, 2000, American journal of medical genetics.

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

S. Blankenberg, C. Detter, J. Schmidtke, 2012, Clinical genetics.

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

P. Robinson, S. Blankenberg, A. Bernhardt, 2015, The application of clinical genetics.

Response to Kosaki et al. “Molecular pathology of Shprintzen–Goldberg syndrome”

S. Tinschert, L. Neumann, Peter N. Robinson, 2006 .

A simple clinical model to estimate the probability of Marfan syndrome.

S. Blankenberg, J. Schmidtke, B. Keyser, 2012, QJM : monthly journal of the Association of Physicians.

The molecular genetics of Marfan syndrome and related disorders

D. Milewicz, D. Judge, H. Dietz, 2006, Journal of Medical Genetics.