Research Topics
Genomes and Genes | Sabina GallatiSummaryAffiliation: University Hospital Country: Switzerland Publications
| Collaborators
|
Detail Information
Publications
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partnersSabina Gallati
Division of Human Genetics, Department of Paediatrics, Inselspital, University of Berne, Berne, Switzerland
Reprod Biomed Online 19:685-94. 2009..The identification of rare and/or mild mutations will not be a reason to abstain from parenthood, but will allow adequate treatment in children at risk for atypical or mild cystic fibrosis as soon as they develop any symptoms...
Long-term gas exchange characteristics as markers of deterioration in patients with cystic fibrosisRichard Kraemer
Department of Paediatrics, University of Berne, Inselspital CH 3010 Berne, Switzerland
Respir Res 10:106. 2009..We examined the long-term course of blood gas measurements in relation to characteristics of lung function and the influence of different CFTR genotype upon this process...- The CFTR frameshift mutation 3905insT and its effect at transcript and protein levelJavier Sanz
Department of Paediatrics, Division of Human Genetics, University of Bern, Bern, Switzerland
Eur J Hum Genet 18:212-7. 2010..However, further experiments are needed to elucidate the fate of the 3905insT CFTR in the cell after its biosynthesis... 
Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler using MLPA hybridization probesMircea Schneider
Division of Human Genetics, Department of Paediatrics Inselspital, University of Bern, Bern, Switzerland
Clin Chim Acta 402:47-53. 2009..g. allelic) and phenotypic diversity. Therefore methods which allow fine quantification of allelic proportions of mRNA transcripts are of high importance...- Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsyBarbara Goeggel Simonetti
Division of Pediatric Neurology, Department of Pediatrics, Inselspital, University of Berne, Berne, Switzerland
Epilepsia 53:2128-34. 2012..This article summarizes the clinical, radiologic, and genetic features of patients with 2q24 duplication involving the sodium channel gene cluster... - Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometryAndre Schaller
Division of Human Genetics, University of Bern, Bern, Switzerland
Eur J Hum Genet 15:53-61. 2007..All experimental steps required for PEX are amenable to the high degree of automation desirable for a high-throughput diagnostic setting, facilitating the work of clinicians involved in the diagnosis of non-classic cystic fibrosis... - Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosisFranziska M Gisler
Division of Human Genetics, Department of Pediatrics and Clinical Research, University of Bern, Bern, Switzerland
Eur J Hum Genet 21:397-403. 2013..Phe508del-CFTR while variants in KRT19 may modulate the amount of p.Phe508del-CFTR at the apical membrane and consequently modify CF disease... - Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosisRichard Kraemer
Department of Paediatrics, University of Berne, Inselspital CH 3010 Berne, Switzerland
Respir Res 7:138. 2006.... - Quantitative 1-step DNA methylation analysis with native genomic DNA as templateThomas von Kanel
Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Bern, Switzerland
Clin Chem 56:1098-106. 2010..To facilitate DNA methylation analysis, we have developed a quantitative 1-step assay for DNA methylation analysis... - Reduced atrial connexin43 expression after pediatric heart surgeryMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Berne, Switzerland
Biochem Biophys Res Commun 342:310-5. 2006..006) and Cx43 higher (p=0.017) expressed, without significant change during CPB. This study revealed a significant influence of CPB and the underlying heart defect on Cx43 expression... - Ventilation inhomogeneities in relation to standard lung function in patients with cystic fibrosisRichard Kraemer
Department of Pediatrics, University of Berne, Inselspital, Berne CH 3010, Switzerland
Am J Respir Crit Care Med 171:371-8. 2005..aeruginosa infection and genotype, pulmonary hyperinflation, airway obstruction, and ventilation inhomogeneities are important pathophysiologic processes that should be evaluated concomitantly as determinants of lung progression in CF... - Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardiumMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, 3010 Berne, Switzerland
Biochem Biophys Res Commun 326:344-8. 2005..Age itself did not influence the SERCA2a and PLB expression, if the hemodynamic overload was not taken into account. This study is the first to show a combined influence of volume overload and age on atrial SERCA2a expression... - Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in childrenMladen Pavlovic
Division of Pediatric Cardiology, Department of Pediatrics, University Hospital, 3010 Berne, Switzerland
Biochem Biophys Res Commun 335:700-4. 2005..This seemed to be an early molecular event, as apart from one, none of the patients showed heart failure before or after surgery... - Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementMartin Konrad
University Children s Hospital, Inselspital, Bern, Switzerland
Am J Hum Genet 79:949-57. 2006.... - Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardiumMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Berne, Switzerland
Exp Biol Med (Maywood) 230:853-9. 2005..To our knowledge, this study is the first to show the impact of gender on the differential expression of calcium-regulating components in pediatric cardiac patients... - Sodium pump reduction correlates with aortic clamp time in pediatric heart surgeryMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Freiburgstrasse 23, 3010 Berne, Switzerland
Exp Biol Med (Maywood) 231:1300-5. 2006..In contrast, only dilated right atrium seemed to be susceptible to CPB in terms of sodium pump expression, showing a reduction during the operation and a correlation of sodium pump with postoperative troponin-I values... - Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke
Division of Human Genetics, University Children s Hospital Inselspital, Bern, Switzerland
Epilepsia 53:1387-98. 2012..Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks... - Detecting and resolving position-dependent temperature effects in real-time quantitative polymerase chain reactionThomas von Kanel
Division of Human Genetics, Departments of Pediatrics and Clinical Research, Inselspital, University of Bern, 3010 Bern, Switzerland
Anal Biochem 419:161-7. 2011..Systematic temperature errors in qPCR instruments can be recognized and their effects eliminated when high precision is required in quantitative genetic diagnostics and critical complementary DNA analyses... - Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCyclerMircea Schneider
Division of Human Genetics, Children s University Hospital, Inselspital, Bern, Switzerland
Clin Chem 52:2005-12. 2006..Some symptomatic patients, however, have only 1 detectable pathogen sequence variant and carry, on the other allele, a large deletion that is not detected by conventional screening methods... - qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracyChristopher B Jackson
Division of Human Genetics, Departement of Pediatrics, Inselspital, University of Berne, Freiburgstrasse, CH 3010 Berne, Switzerland
Biochem Biophys Res Commun 423:441-7. 2012..To our knowledge this is the first time different degradation impact of the two genomes is demonstrated and which evaluates systematically the impact of DNA degradation on quantification of mtDNA copy number... - Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndromeAndre Schaller
Division of Human Genetics, University Hospital Bern, Bern, Switzerland
BMC Neurol 11:4. 2011..In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes... - Effect of allergic bronchopulmonary aspergillosis on lung function in children with cystic fibrosisRichard Kraemer
Division of Human Genetics, Department of Paediatrics, University of Bern, Inselspital, CH 3010 Bern, Switzerland
Am J Respir Crit Care Med 174:1211-20. 2006..The relationship between sensitization to Aspergillus fumigatus and progression of pulmonary function is not yet established in cystic fibrosis (CF)... - Maternal tobacco smoking and decreased leukocytes, including dendritic cells, in neonatesJana M Pachlopnik Schmid
Department of Pediatrics, University Children s Hospital, Inselspital, Berne, Switzerland
Pediatr Res 61:462-6. 2007..Given the importance of dendritic cells in early immune responses, their decrease might reflect an impact of maternal smoking on the developing fetal immune system... - Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophyKevin Wingeier
Pediatric Neurology, University Children s Hospital, Inselspital, Bern 3010, Switzerland
J Clin Neurosci 18:90-5. 2011..No simple relationship between dystrophin mutations and cognitive functioning could be detected. However, our analysis revealed that patients who lack the dystrophin isoform Dp140 have significantly greater cognitive problems... - Reduced longevity in untreated patients with isolated growth hormone deficiencyAmélie Besson
Department of Paediatrics, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
J Clin Endocrinol Metab 88:3664-7. 2003.... - Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-IAmélie Besson
Paediatric Endocrinology, University Children s Hospital, Inselspital, CH 3010 Bern, Switzerland
Eur J Endocrinol 150:635-42. 2004..In this report, we describe a consanguineous family from Sri Lanka with a novel deletion of 4097 bp in length encompassing exon 5... - New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotypeSouzan Salemi
University Children s Hospital, Paediatric Endocrinology, Inselspital, Bern CH 3010, Switzerland
Growth Horm IGF Res 13:264-8. 2003..However, severe growth retardation and failure to thrive remain the leading reason for medical assessment in these patients... - The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR allelesBernhard Steiner
Department of Pediatrics, Division of Human Genetics, Inselspital, University of Berne, Switzerland
Hum Mutat 24:120-9. 2004..In addition, cSNPs may be responsible for variation in the phenotypic expression of CFTR mutations. Quantitative approaches rather than conventional genomic analysis are required to interpret the role of cSNPs...