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Assessment of functional diversities in patients with Asthma, COPD, Asthma-COPD overlap, and Cystic Fibrosis (CF)

PloS one, 2024-02, Vol.19 (2), p.e0292270-e0292270

2024

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Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction

Scientific reports, 2022-02, Vol.12 (1), p.1866-1866, Article 1866

2022

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Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

Proceedings of the National Academy of Sciences - PNAS, 2012-07, Vol.109 (28), p.11324-11329

2012

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Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3318-3323

2022

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Predicting parameters of airway dynamics generated from inspiratory and expiratory plethysmographic airway loops, differentiating subtypes of chronic obstructive diseases

BMJ open respiratory research, 2024-03, Vol.11 (1), p.e002142

2024

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Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children

Frontiers in behavioral neuroscience, 2018-06, Vol.12, p.125-125

2018

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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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Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis

Respiratory research, 2006-11, Vol.7 (1), p.138-138, Article 138

2006

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MTM1 mutations in X-linked myotubular myopathy

Human mutation, 2000-05, Vol.15 (5), p.393-409

2000

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Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

BMC neurology, 2011-01, Vol.11 (1), p.4-4

2011

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Long-term gas exchange characteristics as markers of deterioration in patients with cystic fibrosis

Respiratory research, 2009-11, Vol.10 (1), p.106-106, Article 106

2009

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Functional expression of connexin30 and connexin31 in the polarized human airway epithelium

Differentiation (London), 2007-06, Vol.75 (5), p.382-392

2007

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Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR

Human mutation, 2004-04, Vol.23 (4), p.385-391

2004

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

American journal of human genetics, 2019-08, Vol.105 (2), p.267-282

2019

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Maternal tobacco smoking and decreased leukocytes, including dendritic cells, in neonates

Pediatric research, 2007-04, Vol.61 (4), p.462-466

2007

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Nature genetics, 2015-04, Vol.47 (4), p.393-399

2015

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Effect of Allergic Bronchopulmonary Aspergillosis on Lung Function in Children with Cystic Fibrosis

American journal of respiratory and critical care medicine, 2006-12, Vol.174 (11), p.1211-1220

2006

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Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

European journal of human genetics : EJHG, 2004-02, Vol.12 (2), p.121-126

2004

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Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

Epilepsia (Copenhagen), 2022-10, Vol.63 (10), p.e132-e137

2022

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Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Journal of medical genetics, 2014-03, Vol.51 (3), p.170-175

2014

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Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

Thorax, 2010-07, Vol.65 (7), p.594-599

2010

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Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis

Archives of disease in childhood. Fetal and neonatal edition, 2023-03, Vol.108 (2), p.176

2023

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The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers

Journal of the American Society of Nephrology, 2016-05, Vol.27 (5), p.1544-1554

2016

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SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.225-230

2017

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Assessment of functional diversities in patients with Asthma, COPD, Asthma-COPD overlap, and Cystic Fibrosis (CF)

Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

Predicting parameters of airway dynamics generated from inspiratory and expiratory plethysmographic airway loops, differentiating subtypes of chronic obstructive diseases

Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children

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

Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis

MTM1 mutations in X-linked myotubular myopathy

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Long-term gas exchange characteristics as markers of deterioration in patients with cystic fibrosis

Functional expression of connexin30 and connexin31 in the polarized human airway epithelium

Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Maternal tobacco smoking and decreased leukocytes, including dendritic cells, in neonates

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Effect of Allergic Bronchopulmonary Aspergillosis on Lung Function in Children with Cystic Fibrosis

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis

The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

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