User profiles for "author:FRANCES FLINTER"
Frances FlinterEmeritus 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
Few prospective, randomized controlled clinical trials address the diagnosis and
management of patients with Alport syndrome or thin basement membrane nephropathy …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …
Germline selection shapes human mitochondrial DNA diversity
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 …
homoplasmic variation at> 1% frequency in humans. Migration patterns have contributed to …