User profiles for "author:FRANCES FLINTER"

Frances Flinter

Emeritus Professor of Clinical Genetics, Guy's & St Thomas' NHS Foundation Trust
Verified email at gstt.nhs.uk
Cited by 14865

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy

J Savige, M Gregory, O Gross, C Kashtan… - Journal of the …, 2013 - journals.lww.com
Few prospective, randomized controlled clinical trials address the diagnosis and
management of patients with Alport syndrome or thin basement membrane nephropathy …

Preimplantation genetic diagnosis

P Braude, S Pickering, F Flinter, CM Ogilvie - Nature Reviews Genetics, 2002 - nature.com
Preimplantation genetic diagnosis (PGD) is an evolving technique that provides a practical
alternative to prenatal diagnosis and termination of pregnancy for couples who are at …

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

J Savige, F Ariani, F Mari, M Bruttini, A Renieri… - Pediatric …, 2019 - Springer
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome.
Here, we describe current best practice and likely future developments. In individuals with …

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

D Vetrie, I Vořechovský, P Sideras, J Holland, A Davies… - Nature, 1993 - nature.com
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of
pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has …

X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males

JP Jais, B Knebelmann, I Giatras… - Journal of the …, 2000 - journals.lww.com
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the
association of progressive hematuric nephritis, hearing loss, and, frequently, ocular …

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport …

JP Jais, B Knebelmann, I Giatras… - Journal of the …, 2003 - journals.lww.com
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive
hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen …

[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

KJ Carss, G Arno, M Erwood, J Stephens… - The American Journal of …, 2017 - cell.com
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney …

V Karamatic Crew, N Burton, A Kagan, CA Green… - Blood, 2004 - ashpublications.org
Tetraspanins are thought to facilitate the formation of multiprotein complexes at cell surfaces,
but evidence illuminating the biologic importance of this role is sparse. Tetraspanin CD151 …

[PDF][PDF] Histone lysine methylases and demethylases in the landscape of human developmental disorders

V Faundes, WG Newman, L Bernardini… - The American Journal of …, 2018 - cell.com
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …

Germline selection shapes human mitochondrial DNA diversity

W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman… - Science, 2019 - science.org
INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows
homoplasmic variation at> 1% frequency in humans. Migration patterns have contributed to …