L. Strain

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Is complement factor H a susceptibility factor for IgA nephropathy?

T. Goodship, M. Edey, L. Strain, 2009, Molecular immunology.

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

M. Santibanez-Koref, A. Macleod, P. Barlow, 2014, Journal of the American Society of Nephrology : JASN.

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

W. Fridman, N. Moghal, J. Atkinson, 2008, Blood.

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

G. Remuzzi, P. Zipfel, C. Skerka, 2008, Journal of the American Society of Nephrology : JASN.

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency and affect recognition functions

J. Goodship, P. Zipfel, C. Skerka, 2007 .

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

H. Deng, J. Goodship, T. Goodship, 2005, Journal of Medical Genetics.

hemolytic uremic syndrome Mutations in complement C3 predispose to development of atypical

W. Fridman, N. Moghal, J. Atkinson, 2013 .

Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment.

J. Groothoff, S. Florquin, J. Weening, 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family

H. Budka, I. Szirmai, G. Kovacs, 2001, Journal of neurology, neurosurgery, and psychiatry.

Risk calculation in retinitis pigmentosa.

M. Jay, A. Wright, M. Aldred, 1991, American journal of human genetics.

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

D. Bonthron, Y. Hayashizaki, B. Hayward, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

D. Bonthron, B. Hayward, L. Strain, 1998, Proceedings of the National Academy of Sciences of the United States of America.

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.

J. Goodship, A. Blom, B. Villoutreix, 2008, Journal of immunology.

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

H. Cordell, J. Goodship, B. Shields, 2014, Journal of Medical Genetics.

Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome

J. Groothoff, J. V. van Wijk, J. Davin, 2009, Pediatric Nephrology.

A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.

D. Kavanagh, B. Morgan, C. Harris, 2016, Journal of the American Society of Nephrology : JASN.

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

D. Kavanagh, D. Lappin, T. Goodship, 2016, Immunobiology.

A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBFβ-MYH11 transcript variant

D. Rowe, L. Strain, C. Lowe, 2007, Haematologica.

Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation

J. Davin, T. Goodship, L. Strain, 2008, Pediatric Nephrology.

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.

S. Perkins, R. Saunders, T. Goodship, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Challenges in the management of infantile factor H associated hemolytic uremic syndrome

G. Knoll, G. Filler, T. Goodship, 2004, Pediatric Nephrology.

Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation.

J. Groothoff, J. Davin, T. Goodship, 2010, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Successful Renal Transplantation in Factor H Autoantibody Associated HUS with CFHR1 and 3 Deficiency and CFH Variant G2850T

N. Sebire, Austin Waters, D. Bockenhauer, 2010, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Favorable Long‐Term Outcome after Liver‐Kidney Transplant for Recurrent Hemolytic Uremic Syndrome Associated with a Factor H Mutation

G. Remuzzi, J. Bromberg, S. Emre, 2006, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir.

J. Groothoff, S. Florquin, J. Weening, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Atypical relapse of hemolytic uremic syndrome after transplantation

J. Groothoff, S. Florquin, J. Weening, 2004, Pediatric Nephrology.

Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1)

D. Kavanagh, T. Goodship, L. Strain, 2010, Renal failure.

Triggering of atypical hemolytic uremic syndrome by influenza A ( H 1 N 1 ) Atypical hemolytic uremic syndrome by influenza

Dawn, D. Kavanagh, T. Goodship, 2010 .

A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization.

D. Bonthron, M. Hamilton, L. Strain, 1998, The New England journal of medicine.

Platelet-Density Analysis and Intraplatelet Granule Content in Young Insulin-Dependent Diabetics

B. Clarke, C. Ludlam, A. Collier, 1986, Diabetes.

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

M. Porteous, R. Herd, L. Strain, 1998, Journal of medical genetics.

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

D. Bonthron, A. Wright, L. Strain, 1997, Journal of medical genetics.

retardation syndrome mapping to Xp 22 . Fried syndrome is a distinct X linked mental

D. Bonthron, A. Wright, L. Strain, 2022 .

Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis

A. Curtis, D. Brock, L. Strain, 1988, Human Genetics.

A novel atypical 22q11.2 distal deletion in father and son

M. Porteous, J. Burns, J. Fantes, 2002, Journal of medical genetics.

A novel atypical 22q11.2 distal deletion in father and son

M. Porteous, J. Burns, J. Fantes, 2002, Journal of medical genetics.

Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32

H. Cordell, J. Goodship, D. Kavanagh, 2013, PloS one.

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

J. Goodship, P. Zipfel, C. Skerka, 2007, PLoS genetics.

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WHERE SINGLE AFFECTED CHILD HAS DIED: GUTHRIE SPOTS AND MICROVILLAR ENZYME TESTING

L. Strain, I. Mcintosh, D. Brock, 1988, The Lancet.

A human parthenogenetic chimaera

D. Bonthron, L. Strain, J. Warner, 1995, Nature Genetics.

Reliability of a Single β-Thromboglobulin Measurement in a Diabetic Population : Importance of PGE1 in Anticoagulant Mixture

E. Kohner, C. Ludlam, P. Scarabin, 1987, Thrombosis and Haemostasis.

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.

B. McNicholas, D. Kavanagh, D. Sadlier, 2012, Blood.

HEMOPHILIA-A, F8C, DXS15 AND DXS52 - ESTABLISHMENT OF ORDER AND EVIDENCE FOR A FAMILIAL PREDISPOSITION TO CROSSOVER

H. Watson, C. Ludlam, S. Bhattacharya, 1987 .

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

P. Barlow, D. Kavanagh, T. Goodship, 2010, Blood.

Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene

M. Jackson, J. Goodship, J. Venables, 2006, PLoS medicine.

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Yaobo Xu, M. Santibanez-Koref, I. Roberts, 2017, Journal of the American Society of Nephrology.

Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

G. Kokai, D. Bourn, M. Wright, 2013, Journal of Clinical Immunology.

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.

H. J. Evans, M. Jay, S. Bhattacharya, 1994, American journal of human genetics.

Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13

D. Bonthron, B. Hayward, L. Strain, 2000, Human Genetics.

Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor

A. Ashworth, A. Swain, N. Bown, 2015, Front. Oncol..

Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene

D. Bonthron, F. Speleman, J. Vandesompele, 2000, Human Genetics.

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

D. Bonthron, C. Gosden, D. Brock, 1994, American journal of human genetics.

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS

M. Weale, H. Cordell, N. Sheerin, 2012, Molecular immunology.

Successful simultaneous liver-kidney transplant in an adult with atypical hemolytic uremic syndrome associated with a mutation in complement factor H.

Colin H. Wilson, D. Manas, T. Goodship, 2011, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Factor H autoantibodies in membranoproliferative glomerulonephritis.

P. Barlow, D. Kavanagh, M. Denton, 2012, Molecular immunology.

Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

D. Bonthron, J. Neilson, M. Porteous, 1994, Prenatal diagnosis.

SmaI and HhaI polymorphisms in the 5' region of the human von Willebrand factor gene (F8VWF).

D. Bonthron, D. Brock, L. Strain, 1991, Nucleic acids research.

The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors

J. Goodship, T. Goodship, L. Strain, 2005, Journal of thrombosis and haemostasis : JTH.

Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

D. Fitzpatrick, L. Strain, A. Todd, 1997, Journal of medical genetics.

Complement factor h autoantibodies and age-related macular degeneration.

I. Deary, A. Laude, A. Wright, 2010, Investigative ophthalmology & visual science.

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

D. Bonthron, S. Kenwrick, L. Strain, 1996, Journal of medical genetics.

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

M. Jackson, J. Goodship, P. Zipfel, 2006, Human mutation.

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 Activity1

J. Goodship, A. Blom, B. Villoutreix, 2007, The Journal of Immunology.

from two independent cohorts factor H and membrane cofactor protein: evidence syndrome is influenced by susceptibility factors in The development of atypical haemolytic-uraemic

J. Goodship, V. Frémeaux-Bacchi, C. Loirat, 2005 .

Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?

N. Plant, P. Roversi, D. Kavanagh, 2012, Clinical journal of the American Society of Nephrology : CJASN.

Molecular and Clinical Evaluation of Atypical Hemolytic Uremic Syndrome

J. Goodship, T. Goodship, L. Strain, 2006 .

Fragile X syndrome with FMR1 and FMR2 deletion

Z. Miedzybrodzka, J. Dean, K. Kelly, 1999, Journal of medical genetics.

First‐trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes

G. Besley, A. Curtis, J. Raeburn, 1988, Prenatal diagnosis.

Genotyping of cystic fibrosis families with linked DNA probes

A. Curtis, L. Strain, D. Brock, 1988, Clinical genetics.

Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues.

A. Curtis, D. Brock, L. Strain, 1988, Journal of medical genetics.

Heterogeneity Analysis in40X-LinkedRetinitis Pigmentosa Families

M. Jay, M. Dempster, A. Carothers, 1994 .

Deletion of Complement Factor H Related Genes CFHR1 and CFHR3 is Associated with an Increased Risk of Atypical Hemolytic Uremic Syndrome

J. Goodship, P. Zipfel, C. Skerka, 2005 .

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

P. Barlow, D. Kavanagh, T. Goodship, 2010, Blood.

Postpartum aHUS Secondary to a Genetic Abnormality in Factor H Acquired Through Liver Transplantation

N. Sheerin, J. O'grady, N. Mcdougall, 2012, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Population screening for fragile-X syndrome

D. Bonthron, Joseph Schulman, S. Black, 1993, The Lancet.

POPULATION SCREENING FOR FRAGILE-X SYNDROME. AUTHOR'S REPLY

D. Bonthron, Joseph Schulman, S. Black, 1993 .