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P1264 CLINICAL HETEROGENEITY IN POLYCYSTIC LIVER DISEASE FAMILIES

Journal of hepatology, 2014-04, Vol.60 (1), p.S510-S510

2014

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1394 COPY NUMBER ASSAY IN POLYCYSTIC LIVER DISEASE BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION

Journal of hepatology, 2013-04, Vol.58, p.S560-S560

2013

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346 SOMATIC INACTIVATION IN POLYCYSTIC LIVER SEC63 GERMLINE CARRIERS OCCURS THROUGH LOSS OF HETEROZYGOSITY

Journal of hepatology, 2012-04, Vol.56, p.S140-S141

2012

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438 SECONDARY AND TERTIARY STRUCTURE MODELING REVEALS EFFECTS OF NOVEL MUTATIONS IN POLYCYSTIC LIVER DISEASE GENES PRKCSH AND SEC63

Journal of hepatology, 2009, Vol.50, p.S164-S165

2009

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Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk

Carcinogenesis (New York), 2004-12, Vol.25 (12), p.2407-2415

2004

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Long-term olive oil-based parenteral nutrition sustains innate immune function in home patients without active underlying disease

Clinical nutrition (Edinburgh, Scotland), 2013-08, Vol.32 (4), p.643-649

2013

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696 LOSS OF HETEROZYGOSITY IN LIVER CYSTS OF AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) DEPENDS ON GERMLINE MUTATION OF THE PATIENT

Journal of hepatology, 2011-03, Vol.54, p.S279-S279

2011

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1387 IDENTIFICATION OF A NOVEL GENE ASSOCIATED WITH POLYCYSTIC LIVER AND KIDNEY DISEASES

Journal of hepatology, 2013-04, Vol.58, p.S557-S558

2013

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46 IN AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) CYSTS DEVELOP THROUGH A CELLULAR RECESSIVE MECHANISM INVOLVING LOSS OF HETEROZYGOSITY AND SOMATIC MUTATIONS

Journal of hepatology, 2010, Vol.52, p.S20-S20

2010

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Compound library screening for the identification of a new treatment for polycystic liver disease

Journal of hepatology, 2018-04, Vol.68, p.S627-S628

2018

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SAT-050 - Compound library screening for the identification of a new treatment for polycystic liver disease

Journal of hepatology, 2018-04, Vol.68, p.S627-S628

2018

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884 POLYCYSTIC LIVER DISEASE: A CLINICAL ANALYSIS OF 116 PATIENTS

Journal of hepatology, 2008, Vol.48, p.S332-S332

2008

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Droplet Digital Polymerase Chain Reaction Enables Rapid Detection And Characterisation Of Bacteraemia In Chronic Parenteral Nutrition Patients

Clinical nutrition ESPEN, 2023-04, Vol.54, p.490-490

2023

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Na v 1.7-related small fiber neuropathy: Impaired slow-inactivation and DRG neuron hyperexcitability

Neurology, 2012-05, Vol.78 (21), p.1635-1643

2012

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Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia

British journal of dermatology (1951), 2005-07, Vol.153 (1), p.174-177

2005

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NaV1.7 Gain-of-function Mutations As A Continuum: A1632E Displays Physiological Changes Associated With Erythromelalgia And Paroxysmal Extreme Pain Disorder Mutations And Produces Symptoms Of Both Disorders

Biophysical journal, 2009-02, Vol.96 (3), p.12a-12a

2009

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UGT1A7 polymorphisms in chronic pancreatitis: an example of genotyping pitfalls

The pharmacogenomics journal, 2008-02, Vol.8 (1), p.34-41

2008

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P1264 CLINICAL HETEROGENEITY IN POLYCYSTIC LIVER DISEASE FAMILIES

1394 COPY NUMBER ASSAY IN POLYCYSTIC LIVER DISEASE BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION

346 SOMATIC INACTIVATION IN POLYCYSTIC LIVER SEC63 GERMLINE CARRIERS OCCURS THROUGH LOSS OF HETEROZYGOSITY

438 SECONDARY AND TERTIARY STRUCTURE MODELING REVEALS EFFECTS OF NOVEL MUTATIONS IN POLYCYSTIC LIVER DISEASE GENES PRKCSH AND SEC63

Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk

Long-term olive oil-based parenteral nutrition sustains innate immune function in home patients without active underlying disease

696 LOSS OF HETEROZYGOSITY IN LIVER CYSTS OF AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) DEPENDS ON GERMLINE MUTATION OF THE PATIENT

1387 IDENTIFICATION OF A NOVEL GENE ASSOCIATED WITH POLYCYSTIC LIVER AND KIDNEY DISEASES

46 IN AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) CYSTS DEVELOP THROUGH A CELLULAR RECESSIVE MECHANISM INVOLVING LOSS OF HETEROZYGOSITY AND SOMATIC MUTATIONS

Compound library screening for the identification of a new treatment for polycystic liver disease

SAT-050 - Compound library screening for the identification of a new treatment for polycystic liver disease

884 POLYCYSTIC LIVER DISEASE: A CLINICAL ANALYSIS OF 116 PATIENTS

Droplet Digital Polymerase Chain Reaction Enables Rapid Detection And Characterisation Of Bacteraemia In Chronic Parenteral Nutrition Patients

Na v 1.7-related small fiber neuropathy: Impaired slow-inactivation and DRG neuron hyperexcitability

Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia

NaV1.7 Gain-of-function Mutations As A Continuum: A1632E Displays Physiological Changes Associated With Erythromelalgia And Paroxysmal Extreme Pain Disorder Mutations And Produces Symptoms Of Both Disorders

UGT1A7 polymorphisms in chronic pancreatitis: an example of genotyping pitfalls

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