F
Frances Flinter
Researcher at Guy's and St Thomas' NHS Foundation Trust
Publications - 145
Citations - 8525
Frances Flinter is an academic researcher from Guy's and St Thomas' NHS Foundation Trust. The author has contributed to research in topics: Alport syndrome & Medical genetics. The author has an hindex of 43, co-authored 143 publications receiving 7521 citations. Previous affiliations of Frances Flinter include Boston Children's Hospital & King's College London.
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Journal ArticleDOI
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
David Vetrie,Vorechovský I,Paschalis Sideras,Paschalis Sideras,Jill Holland,Angela F. Davies,Frances Flinter,Lennart Hammarström,Christine Kinnon,Roland J. Levinsky,Martin Bobrow +10 more
TL;DR: A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder, the first evidence that mutations in a src-related gene are involved in human genetic disease.
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
TL;DR: This study identified some novel clinical features of Bardet-Biedl syndrome, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies, and proposes a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder.
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X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males
Jean-Philippe Jais,Bertrand Knebelmann,Iannis Giatras,Mario De Marchi,Gianfranco Rizzoni,Alessandra Renieri,Manfred Weber,Oliver Gross,Kai-Olaf Netzer,Frances Flinter,Yves Pirson,Christine Verellen,Jörgen Wieslander,Ulf Persson,Karl Tryggvason,Paula Martin,Jens Michael Hertz,Cornelis H. Schröder,Marek Sanak,Sarka Krejcova,Maria Fernanda Carvalho,Juan Saus,Corinne Antignac,Hubert J.M. Smeets,Marie Claire Gubler +24 more
TL;DR: The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients and these data could be used for further evaluation of therapeutic approaches.
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X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study
Jean-Philippe Jais,Bertrand Knebelmann,Iannis Giatras,Mario De Marchi,Gianfranco Rizzoni,Alessandra Renieri,Manfred Weber,Oliver Gross,Kai-Olaf Netzer,Frances Flinter,Yves Pirson,Karin Dahan,Jörgen Wieslander,Ulf Persson,Karl Tryggvason,Paula Martin,Jens Michael Hertz,Cornelis H. Schröder,Marek Sanak,Maria Fernanda Carvalho,Juan Saus,Corinne Antignac,Hubert J.M. Smeets,Marie Claire Gubler +23 more
TL;DR: Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot.
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Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy
TL;DR: The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance.