Publications by Dr Anne Lampe - ePrints

Browsing publications by Dr Anne Lampe.

Newcastle Authors	Title	Year
Dr Marta Bertoli Dr Anne Lampe Professor Volker Straub	Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders	2017
Dr Anne Lampe Emerita Professor Katherine Bushby Dr Debbie Hicks	Collagen Type VI-related disorders	2012
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue	2009
Dr Debbie Hicks Dr Anna Sarkozy Dr Anne Lampe Dr Fiona Norwood Professor Volker Straub et al.	EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity	2009
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Response to letter from Bernardi	2009
Dr Matthew Edey Professor David Kavanagh Dr Anne Lampe Professor Judith Goodship Dr Lisa Turnbull et al.	A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity	2008
Dr Debbie Hicks Dr Anne Lampe Dr Rita Barresi Dr Richard Charlton Professor Hanns Lochmuller et al.	A refined diagnostic algorithm for Bethlem myopathy	2008
Dr Anne Lampe Dr Debbie Hicks Dr Steven Laval Dr Richard Charlton Professor Volker Straub et al.	Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance	2008
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Testing therapies in neuromuscular disease: Oral presentations	2008
Professor David Kavanagh Dr Matthew Edey Dr Lisa Turnbull Professor Judith Goodship Dr Anne Lampe et al.	A non-synonymous polymorphism (arg240his) in C4b-binding protein is associated with atypical haemolytic uraemic syndrome and leads to impaired alternative pathway cofactor activity	2007
Dr Anne Lampe Emerita Professor Katherine Bushby Dr Debbie Hicks	A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations	2006
Dr Anne Lampe Dr Debbie Hicks Dr John Hudson Dr Steven Laval Dr Richard Charlton et al.	Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype	2006
Dr Anne Lampe	Pronounced phenotypic variability of heterozygote deletion mutations in collagen VI - Evidence for a UCMD-BM spectrum	2006
Dr Anne Lampe Dr Steven Laval Katarzyna Swoboda Emerita Professor Katherine Bushby	Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy	2005
Dr Anne Lampe Dr Michelle Eagle Dr Mark Buddles Professor Volker Straub Emerita Professor Katherine Bushby et al.	Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes	2005
Dr Anne Lampe Emerita Professor Katherine Bushby	Collagen VI related muscle disorders	2005
Dr Anne Lampe Emerita Professor Katherine Bushby	Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy	2005
Dr Anne Lampe Emerita Professor Katherine Bushby	Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes	2005
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3	2004
Dr Anne Lampe Professor Volker Straub Dr Michael Wright Dr Sara Brown Emerita Professor Katherine Bushby et al.	Congenital muscular dystrophy with short stature, proximal contractures and distal laxity	2004
Dr Anne Lampe Emerita Professor Katherine Bushby	Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations	2004
Dr Anne Lampe Emerita Professor Katherine Bushby	Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry	2004
Dr Anne Lampe	The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations	2004
Dr Anne Lampe Professor Timothy Cheetham	Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency	2003
Professor Judith Goodship Dr Anne Lampe Professor Tim Goodship	Familial hemolytic uremic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system	2003
Dr Anne Lampe Dr Clifford Lawrence	Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome	2003
Dr Anna Richards Professor Judith Goodship Dr Anne Lampe Professor Tim Goodship	Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
Dr Anne Lampe Dr Niamh Leonard Emerita Professor Katherine Bushby	A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes	2002
Dr Anne Lampe Dr Sally Lynch	Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma	2002
Dr Anne Lampe	Mutations in a novel PHD finger gene, PHF6, cause Borjeson-Forssman-Lehmann Syndrome	2002
Dr Anne Lampe	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome	2002
Dr Anne Lampe Dr Niamh Leonard Mary Johnson Emerita Professor Katherine Bushby	Ullrich-like congenital muscular dystrophy without linkage to collagen VI	2002
Dr Anne Lampe Dr Sally Lynch	Rhabdomyosarcoma in familial Neurofibromatosis type 1 secondary to deletion of the gene	2001