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Variants in TM6SF2 and PCSK7 are risk factors for the development of cirrhosis in people with genetic haemochromatosis

Journal of hepatology, 2017, Vol.66 (1), p.S179-S180

2017

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Heterologous expression from the human D-Loop in organello

Mitochondrion, 2014-07, Vol.17, p.67-75

2014

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Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

Application of clinical genetics, 2014-01, Vol.7 (default), p.133-146

Gallati, Sabina

2014

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A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

European journal of pediatrics, 2016-04, Vol.175 (4), p.517-525

2016

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Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

Neurology, 2005-08, Vol.65 (4), p.603-605

2005

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ePS01.2 Newborn screening for cystic fibrosis in Switzerland – Evaluation after 5 years

Journal of cystic fibrosis, 2016-06, Vol.15, p.S36-S37

2016

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16 Negative impact of F508del on the effect of the CFTR frameshift mutation 3905insT

Journal of cystic fibrosis, 2011, Vol.10, p.S4-S4

2011

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WS11.3 Newborn screening for cystic fibrosis in Switzerland – performance after 4 years

Journal of cystic fibrosis, 2015-06, Vol.14, p.S22-S22

2015

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WS23.1 Progression of lung disease within specific genotypes of patients with cystic fibrosis (CF) – Which lung function parameter differentiates best?

Journal of cystic fibrosis, 2012-06, Vol.11, p.S51-S51

2012

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WS11.3 Change of algorithm in the CF centers influences the amount of equivocal CF diagnoses in the newborn screening program in Switzerland

Journal of cystic fibrosis, 2014-06, Vol.13, p.S23-S23

2014

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15 National newborn screening for cystic fibrosis in Switzerland – a parents’ perspective

Journal of cystic fibrosis, 2014-06, Vol.13, p.S48-S48

2014

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37 Comparison of two sweat test systems (Macroduct versus Nanoduct) for the diagnosis of cystic fibrosis in the newborn screening program in Switzerland

Journal of cystic fibrosis, 2013-06, Vol.12, p.S57-S57

2013

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WS8.10 Comparative quantitative proteomics of wild-type and CF primary nasal and bronchial epithelial cells

Journal of cystic fibrosis, 2012-06, Vol.11, p.S18-S18

2012

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Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

Journal of medical genetics, 2008-01, Vol.45 (1), p.47-54

2008

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Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

European journal of human genetics : EJHG, 1999-07, Vol.7 (5), p.590-598

1999

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WS21.4 Newborn screening for cystic fibrosis in Switzerland – evaluation after one year

Journal of cystic fibrosis, 2012-06, Vol.11, p.S47-S47

2012

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16 Newborn screening for cystic fibrosis in Switzerland – Consequences after analysis of 4 months pilot study

Journal of cystic fibrosis, 2012-06, Vol.11, p.S59-S59

2012

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Contiguous ~16Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1964-1968

2011

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134 EVALUATION OF GENOME-WIDE LOCI OF IRON METABOLISM IN HEREDITARY HEMOCHROMATOSIS IDENTIFIES PCSK7 AS A PREDICTOR OF LIVER CIRRHOSIS

Journal of hepatology, 2012-04, Vol.56, p.S58-S58

2012

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Prognosis of lung disease in cystic fibrosis children based on genotype modelling and lung function longitudinal data

Journal of cystic fibrosis, 2010, Vol.9, p.S4-S4

2010

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Mitochondrial neurogastrointestinal encephalomyopathy in three siblings : Clinical, genetic and neuroradiological features

Journal of neurology, 2007-02, Vol.254 (2), p.146-153

2007

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Protease-antiprotease imbalance in the lungs of children with cystic fibrosis

American journal of respiratory and critical care medicine, 1994-07, Vol.150 (1), p.207-213

1994

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18 Search for modifier genes in F508del homozygous cystic fibrosis patients

Journal of cystic fibrosis, 2011, Vol.10, p.S5-S5

2011

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Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

Mitochondrion, 2011-05, Vol.11 (3), p.488-496

2011

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Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

Variants in TM6SF2 and PCSK7 are risk factors for the development of cirrhosis in people with genetic haemochromatosis

Heterologous expression from the human D-Loop in organello

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

ePS01.2 Newborn screening for cystic fibrosis in Switzerland – Evaluation after 5 years

16 Negative impact of F508del on the effect of the CFTR frameshift mutation 3905insT

WS11.3 Newborn screening for cystic fibrosis in Switzerland – performance after 4 years

WS23.1 Progression of lung disease within specific genotypes of patients with cystic fibrosis (CF) – Which lung function parameter differentiates best?

WS11.3 Change of algorithm in the CF centers influences the amount of equivocal CF diagnoses in the newborn screening program in Switzerland

15 National newborn screening for cystic fibrosis in Switzerland – a parents’ perspective

37 Comparison of two sweat test systems (Macroduct versus Nanoduct) for the diagnosis of cystic fibrosis in the newborn screening program in Switzerland

WS8.10 Comparative quantitative proteomics of wild-type and CF primary nasal and bronchial epithelial cells

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

WS21.4 Newborn screening for cystic fibrosis in Switzerland – evaluation after one year

16 Newborn screening for cystic fibrosis in Switzerland – Consequences after analysis of 4 months pilot study

Contiguous ~16Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

134 EVALUATION OF GENOME-WIDE LOCI OF IRON METABOLISM IN HEREDITARY HEMOCHROMATOSIS IDENTIFIES PCSK7 AS A PREDICTOR OF LIVER CIRRHOSIS

Prognosis of lung disease in cystic fibrosis children based on genotype modelling and lung function longitudinal data

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings : Clinical, genetic and neuroradiological features

Protease-antiprotease imbalance in the lungs of children with cystic fibrosis

18 Search for modifier genes in F508del homozygous cystic fibrosis patients

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

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