S. Feather

发表

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

M. Ognjanović, R. Gilbert, M. Saleem, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Graham M Lord, M. Simpson, M. Ognjanović, 2017, Kidney international.

Mineral metabolism and vascular damage in children on dialysis.

D. Milford, J. Deanfield, R. Shroff, 2007, Journal of the American Society of Nephrology : JASN.

Toll-like receptor responses of normal human urothelial cells to bacterial flagellin and lipopolysaccharide.

J. Southgate, C. Varley, I. Eardley, 2011, The Journal of urology.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

M. Nowaczyk, S. Zeesman, S. Feather, 2003, American journal of medical genetics. Part A.

EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy)

R. Kleta, A. Zdebik, R. Warth, 2009, Archives of Disease in Childhood.

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

R. Winter, A. Woolf, S. Malcolm, 1997, Human molecular genetics.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Richard S. Lee, Amita Sharma, E. Mancini, 2015, American journal of human genetics.

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

A. Woolf, P. Winyard, S. Dodd, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutation analyses of Uroplakin II in children with renal tract malformations.

M. Bitner-Glindzicz, J. Southgate, A. Woolf, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The long‐term outcome of prenatally detected posterior urethral valves: a 10 to 23‐year follow‐up study

R. Subramaniam, S. Feather, N. Haider, 2008, BJU international.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Dorothy A. Thompson, M. Hubank, J. Cross, 2009, The New England journal of medicine.

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.

H. Cordell, J. Goodship, A. Woolf, 2010, Journal of the American Society of Nephrology : JASN.

Urinary tract effects of HPSE2 mutations.

H. Cordell, D. Barton, W. Newman, 2015, Journal of the American Society of Nephrology : JASN.

The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.

A. Ashworth, J. Perry, S. Feather, 1998, Human molecular genetics.

Expression and localisation of aquaporin water channels in human urothelium in situ and in vitro.

Jennifer Southgate, Sally Feather, J. Southgate, 2009, European urology.

Vesicoureteric reflux: all in the genes?

A. Aynsley-Green, I. Gordon, R. Risdon, 1996, The Lancet.

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity.

H. Ostrer, A. Atala, S. Bauer, 2004, Kidney international.

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.

K. Devriendt, J. Goodship, A. Woolf, 2000, American journal of human genetics.

Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank.

H. Cordell, J. Goodship, A. Woolf, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

Identification of the gene for oral-facial-digital type I syndrome.

A. Ballabio, R. Winter, A. Woolf, 2001, American journal of human genetics.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

A. Zinn, M. Bitner-Glindzicz, S. Ellard, 2007, Journal of pediatric urology.

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

M. Bitner-Glindzicz, T. Sun, A. Woolf, 2005, Journal of the American Society of Nephrology : JASN.

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

A. Woolf, M. Porteous, P. Winyard, 2003, Journal of the American Society of Nephrology : JASN.

Recent insights into kidney diseases associated with glomerular cysts

A. Woolf, C. Bingham, S. Feather, 2002, Pediatric Nephrology.

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

A. Woolf, P. Winyard, S. Malcolm, 2004, Journal of the American Society of Nephrology : JASN.

Genetics of human kidney malformations.

P. Winyard, S. Feather, 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Rolf A Heckemann, Alexander Hammers, Torsten Baldeweg, 2013, Developmental medicine and child neurology.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

R. Kleta, A. Zdebik, S. Hulton, 2011, The Journal of physiology.

PALML, a novel paralemmin-related gene mapping on human chromosome 1p21.

X. Estivill, K. Devriendt, L. Sumoy, 2001, Gene.

Rare but Relevant Kidney Disorders

Knepper, Dorothy A. Thompson, M. Hubank, 2009, Clinical Journal of the American Society of Nephrology.

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Laura A. Crinnion, D. Bonthron, C. Inglehearn, 2015, Molecular genetics & genomic medicine.