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Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

Gene, 2013-05, Vol.520 (2), p.194-197

2013

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FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

Human mutation, 2009-02, Vol.30 (2), p.181-190

2009

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Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

World journal of pediatrics : WJP, 2016-11, Vol.12 (4), p.501-503

2016

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Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report

Nephron (2015), 2017, Vol.135 (1), p.72-76

2017

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Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

PloS one, 2008-12, Vol.3 (12), p.e4003-e4003

2008

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Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy

Pediatric nephrology (Berlin, West), 2016-06, Vol.31 (6), p.941-955

2016

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Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

Gene, 2013-09, Vol.526 (2), p.474-477

2013

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Development and clinical validation of a novel algorithmic score (GAAD) for detecting HCC in prospective cohort studies

Hepatology communications, 2023-11, Vol.7 (11)

2023

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Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Nephrology, dialysis, transplantation, 2011-07, Vol.26 (7), p.2181-2188

2011

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Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers

Clinical and applied thrombosis/hemostasis, 2017-01, Vol.23 (1), p.27-33

2017

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Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

Pediatric nephrology (Berlin, West), 2016-01, Vol.31 (1), p.73-81

2016

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Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

Croatian medical journal, 2017-12, Vol.58 (6), p.416-423

2017

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A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

European journal of medical genetics, 2012-03, Vol.55 (3), p.211-215

2012

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Overexpression of Human Lecithin Cholesterol Acyltransferase Leads to Hyperalphalipoproteinemia in Transgenic Mice

The Journal of biological chemistry, 1995-05, Vol.270 (20), p.12269-12275

1995

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Left Ventricular Non-Compaction Associated with a Genetic Variant of the CYP2C9 Gene

Heart, lung & circulation, 2006-08, Vol.15 (4), p.269-271

2006

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Marfan Database (third edition): new mutations and new routines for the software

Nucleic acids research, 1998-01, Vol.26 (1), p.229

1998

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In Vitro Expression of Structural Defects in the Lecithin-Cholesterol Acyltransferase Gene

The Journal of biological chemistry, 1995-04, Vol.270 (16), p.9443-9447

1995

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Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome

European journal of cardio-thoracic surgery, 1998-04, Vol.13 (4), p.416-423

1998

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Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis

The Journal of clinical investigation, 1993-07, Vol.92 (1), p.479-485

1993

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Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome : lecithin-cholesterol acyltransferase (Thr123 → Ile) and lecithin-cholesterol acyltransferase (Trh347 → Met)

The Journal of clinical investigation, 1992-02, Vol.89 (2), p.499-506

1992

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Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

Development and clinical validation of a novel algorithmic score (GAAD) for detecting HCC in prospective cohort studies

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

Overexpression of Human Lecithin Cholesterol Acyltransferase Leads to Hyperalphalipoproteinemia in Transgenic Mice

Left Ventricular Non-Compaction Associated with a Genetic Variant of the CYP2C9 Gene

Marfan Database (third edition): new mutations and new routines for the software

In Vitro Expression of Structural Defects in the Lecithin-Cholesterol Acyltransferase Gene

Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome

Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome : lecithin-cholesterol acyltransferase (Thr123 → Ile) and lecithin-cholesterol acyltransferase (Trh347 → Met)

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