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Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32

PloS one, 2013-04, Vol.8 (4), p.e60352

2013

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Thrombotic Microangiopathy in Inverted Formin 2 - Mediated Renal Disease

Journal of the American Society of Nephrology, 2017-04, Vol.28 (4), p.1084-1091

2017

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Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

PLoS genetics, 2007-03, Vol.3 (3), p.e41-e41

2007

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

Blood, 2012-01, Vol.119 (2), p.591-601

2012

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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

American journal of kidney diseases, 2010-04, Vol.55 (4), p.708-711

2010

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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

Journal of the American Society of Nephrology, 2016-06, Vol.27 (6), p.1617-1624

2016

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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

PLoS medicine, 2006-10, Vol.3 (10), p.e431-e431

2006

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Factor H autoantibodies in membranoproliferative glomerulonephritis

Molecular immunology, 2012-10, Vol.52 (3-4), p.200-206

2012

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Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Journal of medical genetics, 2014-11, Vol.51 (11), p.756-764

2014

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Factor I Autoantibodies in Patients with Atypical Hemolytic Uremic Syndrome: Disease-Associated or an Epiphenomenon?

Clinical journal of the American Society of Nephrology, 2012-03, Vol.7 (3), p.417-426

2012

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Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor

Frontiers in oncology, 2015-10, Vol.5 (Article 236), p.236

2015

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Bidirectional Imprinting of a Single Gene: GNAS1 Encodes Maternally, Paternally, and Biallelically Derived Proteins

Proceedings of the National Academy of Sciences - PNAS, 1998-12, Vol.95 (26), p.15475-15480

1998

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Successful Simultaneous Liver-Kidney Transplant in an Adult With Atypical Hemolytic Uremic Syndrome Associated With a Mutation in Complement Factor H

American journal of kidney diseases, 2011-07, Vol.58 (1), p.109-112

2011

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The Human GNAS1 Gene is Imprinted and Encodes Distinct Paternally and Biallelically Expressed G Proteins

Proceedings of the National Academy of Sciences - PNAS, 1998-08, Vol.95 (17), p.10038-10043

1998

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Complement factor h autoantibodies and age-related macular degeneration

Investigative ophthalmology & visual science, 2010-11, Vol.51 (11), p.5858-5863

2010

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

Haematologica (Roma), 2007-10, Vol.92 (10), p.1433-1434

2007

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Association of a Factor H Mutation With Hemolytic Uremic Syndrome Following a Diarrheal Illness

American journal of kidney diseases, 2008-03, Vol.51 (3), p.487-490

2008

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

Pediatric nephrology (Berlin, West), 2004-08, Vol.19 (8), p.908-911

2004

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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

Blood, 2010-01, Vol.115 (2), p.379-387

2010

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A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

The New England journal of medicine, 1998-01, Vol.338 (3), p.166-169

1998

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Marine administration and spatial data infrastructure

Marine policy, 2006-07, Vol.30 (4), p.431-441

2006

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

Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2425-2433

2014

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The Complement Factor H R1210C Mutation Is Associated With Atypical Hemolytic Uremic Syndrome

Journal of the American Society of Nephrology, 2008-03, Vol.19 (3), p.639-646

2008

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

Immunobiology (1979), 2016-10, Vol.221 (10), p.1124-1130

2016

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Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32

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

Thrombotic Microangiopathy in Inverted Formin 2 - Mediated Renal Disease

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

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

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

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

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

Factor H autoantibodies in membranoproliferative glomerulonephritis

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Factor I Autoantibodies in Patients with Atypical Hemolytic Uremic Syndrome: Disease-Associated or an Epiphenomenon?

Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor

Bidirectional Imprinting of a Single Gene: GNAS1 Encodes Maternally, Paternally, and Biallelically Derived Proteins

Successful Simultaneous Liver-Kidney Transplant in an Adult With Atypical Hemolytic Uremic Syndrome Associated With a Mutation in Complement Factor H

The Human GNAS1 Gene is Imprinted and Encodes Distinct Paternally and Biallelically Expressed G Proteins

Complement factor h autoantibodies and age-related macular degeneration

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

Association of a Factor H Mutation With Hemolytic Uremic Syndrome Following a Diarrheal Illness

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

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

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

Marine administration and spatial data infrastructure

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

The Complement Factor H R1210C Mutation Is Associated With Atypical Hemolytic Uremic Syndrome

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

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