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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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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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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Genetics in medicine, 2016-05, Vol.18 (5), p.483-493

2016

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Functionally significant, rare transcription factor variants in tetralogy of Fallot

PloS one, 2014-08, Vol.9 (8), p.e95453

2014

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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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Mutations in complement factor i predispose to development of atypical hemolytic uremic syndrome

Journal of the American Society of Nephrology, 2005-07, Vol.16 (7), p.2150-2155

2005

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Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome

Proceedings of the National Academy of Sciences - PNAS, 2003-10, Vol.100 (22), p.12966-12971

2003

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Nature genetics, 2003-04, Vol.33 (4), p.497-501

2003

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Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.341-351

2009

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

American journal of human genetics, 2015-09, Vol.97 (3), p.419-434

2015

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Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Development (Cambridge), 2007-08, Vol.134 (16), p.2903-2912

2007

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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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Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux

Journal of the American Society of Nephrology, 2010, Vol.21 (1), p.113-123

2010

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Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

BMC biology, 2011-02, Vol.9 (1), p.14-14, Article 14

2011

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Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy

American journal of kidney diseases, 2013-11, Vol.62 (5), p.978-983

2013

Volltextzugriff (PDF)

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

American journal of human genetics, 2001-02, Vol.68 (2), p.485-490

2001

Volltextzugriff (PDF)

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

Bone (New York, N.Y.), 2012-01, Vol.50 (1), p.28-41

2012

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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti

PloS one, 2013-12, Vol.8 (12), p.e81625-e81625

2013

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Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

BMC medical genetics, 2015-06, Vol.16 (1), p.35-35, Article 35

2015

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients

Human genetics, 2007-01, Vol.120 (5), p.663-670

2007

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Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

American journal of human genetics, 2003-03, Vol.72 (3), p.728-732

2003

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Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank

Clinical journal of the American Society of Nephrology, 2011-04, Vol.6 (4), p.760-766

2011

Volltextzugriff (PDF)

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

American journal of human genetics, 2015-08, Vol.97 (2), p.291-301

2015

Volltextzugriff (PDF)

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Nature communications, 2017-05, Vol.8 (1), p.15481-10, Article 15481

2017

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

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

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Functionally significant, rare transcription factor variants in tetralogy of Fallot

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

Mutations in complement factor i predispose to development of atypical hemolytic uremic syndrome

Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank

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

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

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