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Items where Division is "03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)"

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Number of items at this level: 84.

2012

Fuchs, O. and Latzin, P. and Kuehni, C. E. and Frey, U.. (2012) Cohort Profile : The Bern Infant Lung Development Cohort. International journal of epidemiology, Vol. 41, H. 2. S. 366-376.

2011

Barben, Juerg and Kuehni, Claudia E. and Strippoli, Marie-Pierre F. and Schiller, Barbara and Hammer, Juerg and Trachsel, Daniel and Swiss Paediatric Respiratory Research Group, . (2011) Mannitol dry powder challenge in comparison with exercise testing in children. Pediatric pulmonology, Vol. 46, H. 9. S. 842-848.

Dettmer, Matthias and Itin, Peter and Miny, Peter and Gandhi, Manoj and Cathomas, Gieri and Willi, Niels. (2011) Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? Diagnostic pathology, Vol. 6. S. 75.

Dill, Patricia and Schneider, Jacques and Weber, Peter and Trachsel, Daniel and Tekin, Mustafa and Jakobs, Cornelis and Thöny, Beat and Blau, Nenad. (2011) Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular genetics and metabolism, Vol. 104, no. 3. S. 362-368.

Ege, M. J. and Mayer, M. and Normand, A. C. and Genuneit, J. and Cookson Wocm, and Braun-Fahrländer C., and Heederik, D. and Piarroux, R. and von Mutius E., . (2011) Exposure to environmental microorganisms and childhood asthma. The New England journal of medicine, Vol. 364, H. 8. S. 701-709.

Ege, M. J. and Strachan, D. P. and Cookson, W. O. and Moffatt, M. F. and Gut, I. and Lathrop, M. and Kabesch, M. and Genuneit, J. and Buchele, G. and Sozanska, B. and Boznanski, A. and Cullinan, P. and Horak, E. and Bieli, C. and Braun-Fahrländer C., and Heederik, D. and von Mutius E., and Gabriela Study Group, . (2011) Gene-environment interaction for childhood asthma and exposure to farming in Central Europe. Journal of allergy and clinical immunology, Vol. 127, H. 1. S. 138-144.

Filges, I. and Röthlisberger, B. and Blattner, A. and Boesch, N. and Demougin, P. and Wenzel, F. and Huber, A. R. and Heinimann, K. and Weber, P. and Miny, P.. (2011) Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical genetics, Vol. 79, H. 1. S. 79-85.

Filges, Isabel and Kang, Anjeung and Hench, Jürgen and Wenzel, Friedel and Bruder, Elisabeth and Miny, Peter and Tercanli, Sevgi. (2011) Fetal polydactyly : a study of 24 cases ascertained by prenatal sonography. Journal of ultrasound in medicine, Vol. 30, H. 7. S. 1021-1029.

Filges, Isabel and Kang, Anjeung and Klug, Vanessa and Wenzel, Friedel and Heinimann, Karl and Tercanli, Sevgi and Miny, Peter. (2011) aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis. Prenatal diagnosis, Vol. 31, H. 5. S. 473-478.

Filges, Isabel and Kunz, Christophe and Miny, Peter and Boesch, Nemya and Szinnai, Gabor and Wenzel, Friedel and Tschudin, Sibil and Zumsteg, Urs and Heinimann, Karl. (2011) A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and sterility, Vol. 96, H. 4. S. 851-855.

Filges, Isabel and Shimojima, Keiko and Okamoto, Nobuhiko and Röthlisberger, Benno and Weber, Peter and Huber, Andreas R. and Nishizawa, Tsutomu and Datta, Alexandre N. and Miny, Peter and Yamamoto, Toshiyuki. (2011) Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of medical genetics, Vol. 48, H. 2. S. 117-122.

Frey, Urs and Maksym, Geoffrey and Suki, Béla. (2011) Temporal complexity in clinical manifestations of lung disease. Journal of applied physiology, Vol. 110, no. 6. S. 1723-1731.

Frisk, Virginia and Jakobson, Lorna S. and Unger, Sharon and Trachsel, Daniel and O'Brien, Karel. (2011) Long-term neurodevelopmental outcomes of congenital diaphragmatic hernia survivors not treated with extracorporeal membrane oxygenation. Journal of pediatric surgery, Vol. 46, H. 7. S. 1309-1318.

Fuchs, O. and Latzin, P. and Thamrin, C. and Stern, G. and Frischknecht, P. and Singer, F. and Kieninger, E. and Proietti, E. and Riedel, T. and Frey, U.. (2011) Normative data for lung function and exhaled nitric oxide in unsedated healthy infants. The European respiratory journal, Vol. 37, H. 5. S. 1208-1216.

Genuneit, J. and Büchele, G. and Waser, M. and Kovacs, K. and Debinska, A. and Boznanski, A. and Strunz-Lehner C., and Horak, E. and Cullinan, P. and Heederik, D. and Braun-Fahrländer C., and von Mutius E., and Gabriela Study Group, . (2011) The GABRIEL Advanced Surveys: study design, participation and evaluation of bias. Paediatric and perinatal epidemiology, Vol. 25, H. 5. S. 436-447.

Grünert, Sarah Catharina and Fowler, Brian and Superti-Furga, Andrea and Sass, Jörn Oliver and Schwab, Karl Otfried. (2011) Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain & development, Vol. 33, H. 5. S. 432-436.

Häcker, F.-M. and Frech-Dörfler, M. and von Rotz, M. and Rudin, C.. (2011) Endoscopic hyaluronic acid/dextranomer gel implantation is effective as first-line treatment of vesicoureteral reflux (VUR) in children : a single centre experience. European journal of pediatric surgery, Vol. 21, no. 5. S. 299-303.

Kieninger, Elisabeth and Singer, Florian and Fuchs, Oliver and Abbas, Chiara and Frey, Urs and Regamey, Nicolas and Casaulta, Carmen and Latzin, Philipp. (2011) Long-term course of lung clearance index between infancy and school-age in cystic fibrosis subjects. Journal of cystic fibrosis, Vol. 10, H. 6. S. 487-490.

Latzin, Philipp and Frey, Urs and Armann, Jakob and Kieninger, Elisabeth and Fuchs, Oliver and Röösli, Martin and Schaub, Bianca. (2011) Exposure to moderate air pollution during late pregnancy and cord blood cytokine secretion in healthy neonates. PLoS one, Vol. 6, H. 8 , e23130.

Leonardi, Nora A. and Spycher, Ben D. and Strippoli, Marie-Pierre F. and Frey, Urs and Silverman, Michael and Kuehni, Claudia E.. (2011) Validation of the Asthma Predictive Index and comparison with simpler clinical prediction rules. Journal of allergy and clinical immunology, Vol. 127, H. 6 , S. 1466-1472.e6.

Loss, G. and Apprich, S. and Waser, M. and Kneifel, W. and Genuneit, J. and Büchele, G. and Weber, J. and Sozanska, B. and Danielewicz, H. and Horak, E. and van Neerven, R. J. and Heederik, D. and Lorenzen, P. C. and von Mutius, E. and Braun-Fahrländer, C. and Gabriela, study group. (2011) The protective effect of farm milk consumption on childhood asthma and atopy : the GABRIELA study. Journal of allergy and clinical immunology, Vol. 128, H. 4. S. 766-773.

Pramana, Isabelle A. and Latzin, P. and Schlapbach, L. J. and Hafen, G. and Kuehni, C. E. and Nelle, M. and Riedel, T. and Frey, U.. (2011) Respiratory symptoms in preterm infants : burden of disease in the first year of life. European journal of medical research, Vol. 16, H. 5. S. 223-230.

Rudin, C. and Spaenhauer, A. and Keiser, O. and Rickenbach, M. and Kind, C. and Aebi-Popp, K. and Brinkhof, M. W. G. and Swiss HIV Cohort Study, and Swiss Mother, and Child HIV Cohort Study, . (2011) Antiretroviral therapy during pregnancy and premature birth : analysis of Swiss data. HIV medicine, Vol. 12, H. 4. S. 228-235.

Rutsch, Frank and Gailus, Susann and Suormala, Terttu and Fowler, Brian. (2011) LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. Journal of inherited metabolic disease, Vol. 34, no. 1. S. 121-126.

Singer, Florian and Stern, Georgette and Thamrin, Cindy and Fuchs, Oliver and Riedel, Thomas and Gustafsson, Per and Frey, Urs and Latzin, Philipp. (2011) Tidal volume single breath washout of two tracer gases : a practical and promising lung function test. PLoS one, Vol. 6, H. 3 , e17588.

Stern, Georgette and de Jongste, Johan and van der Valk, Ralf and Baraldi, Eugenio and Carraro, Silvia and Thamrin, Cindy and Frey, Urs. (2011) Fluctuation phenotyping based on daily fraction of exhaled nitric oxide values in asthmatic children. Journal of allergy and clinical immunology, Vol. 128, H. 2. S. 293-300.

Thamrin, Cindy and Nydegger, Regula and Stern, Georgette and Chanez, Pascal and Wenzel, Sally E. and Watt, Rosemary A. and FitzPatrick, Susan and Taylor, D. Robin and Frey, Urs. (2011) Associations between fluctuations in lung function and asthma control in two populations with differing asthma severity. Thorax, Vol. 66, no. 12. S. 1036-1042.

Thamrin, Cindy and Zindel, Joel and Nydegger, Regula and Reddel, Helen K. and Chanez, Pascal and Wenzel, Sally E. and FitzPatrick, Susan and Watt, Rosemary A. and Suki, Béla and Frey, Urs. (2011) Predicting future risk of asthma exacerbations using individual conditional probabilities. Journal of allergy and clinical immunology, Vol. 127, H. 6 , S. 1494-1502.e3.

2010

Aebi-Popp, Karoline and Lapaire, Olav and Glass, Tracy R. and Vilén, Louise and Rudin, Christoph and Elzi, Luigia and Battegay, Mannel and Keiser, Olivia and de Tejada, Begona Martinez and Hoesli, Irene M. and Swiss Mother, and Child HIV Cohort Study, . (2010) Pregnancy and delivery outcomes of HIV infected women in Switzerland 2003-2008. Journal of perinatal medicine, Vol. 38, H. 4. S. 353-358.

Amin, Samir D. and Majumdar, Arnab and Frey, Urs and Suki, Béla. (2010) Modeling the dynamics of airway constriction : effects of agonist transport and binding. Journal of applied physiology, Vol. 109, no. 2. S. 553-563.

Binkert, Franz and Spreiz, Ana and Höckner, Martina and Miny, Peter and von Dach Leu, Brigitte and Erdel, Martin and Zschocke, Johannes and Utermann, Gerd and Kotzot, Dieter. (2010) Parental origin and mechanism of formation of a 46,X,der(X)(pter--<q21.1::p11.4--<pter)/45,X karyotype in a woman with mild Turner syndrome. Fertility and sterility, Vol. 94, H. 1 , 350.e12-5.

Boyd, K. and Dunn, David T. and Castro, H. and Gibb, D. M. and Duong, T. and Aboulker, J. P. and Bulterys, M. and Cortina-Borja, M. and Gabiano, C. and Galli, L. and Giaquinto, C. and Harris, D. R. and HugheS, M. and McKinney, R. and Mofenson, L. and Moye, J. and Newell, M. L. and Pahwa, S. and Palumbo, P. and Rudin, C. and Sharland, M. and Shearer, W. and Thompson, B. and Tookey, P.. (2010) Discordance between CD4 cell count and CD4 cell percentage : implications for when to start antiretroviral therapy in HIV-1 infected children. AIDS, Vol. 24, H. 8. S. 1213-1217.

Eberle, Alex N. and Mild, Gabriele and Zumsteg, Urs. (2010) Cellular models for the study of the pharmacology and signaling of melanin-concentrating hormone receptors. Journal Of Receptors And Signal Transduction, Vol. 30, H. 6. S. 385-402.

Filges, Isabel and Röthlisberger, Benno and Boesch, Nemya and Weber, Peter and Wenzel, Friedel and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2010) Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American journal of medical genetics. Part A, Vol. 152, H. 4. S. 987-993.

Gailus, Susann and Höhne, Wolfgang and Gasnier, Bruno and Nürnberg, Peter and Fowler, Brian and Rutsch, Frank. (2010) Insights into lysosomal cobalamin trafficking : lessons learned from cblF disease. Journal of molecular medicine, Vol. 88, no. 5. S. 459-466.

Gailus, Susann and Suormala, Terttu and Malerczyk-Aktas, Ayse Gül and Toliat, Mohammad R. and Wittkampf, Tanja and Stucki, Martin and Nürnberg, Peter and Fowler, Brian and Hennermann, Julia B. and Rutsch, Frank. (2010) A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. Journal of Inherited Metabolic Disease, Vol. 33, no. 1. S. 17-24.

Hutten, Gerard J. and van Eykern, Leo A. and Latzin, Philipp and Thamrin, Cindy and van Aalderen, Wim M. and Frey, Urs. (2010) Respiratory muscle activity related to flow and lung volume in preterm infants compared with term infants. Pediatric research, Vol. 68, H. 4. S. 339-343.

In-Albon, Tina and Zumsteg, Urs and Müller, Dominique and Schneider, Silvia. (2010) Mental disorders in the Pediatric Setting- Results of a Swiss Survey. Swiss medical weekly, Vol. 140. S. 1.

Ochs, Katharina and Hoksch, Beatrix and Frey, Urs and Schmid, Ralph A.. (2010) Inflammatory myofibroblastic tumour of the lung in a five-year-old girl. Interactive cardiovascular and thoracic surgery, Vol. 10, H. 5. S. 805-806.

Ross, Patrick A. and Hammer, Jürg and Khemani, Robinder and Klein, Max and Newth, Christopher J. L.. (2010) Pressure-rate product and phase angle as measures of acute inspiratory upper airway obstruction in rhesus monkeys. Pediatric pulmonology, Vol. 45, H. 7. S. 639-644.

Rudin, and Christoph, and Wolbers, and Marcel, and Nadal, and David, and Rickenbach, and Martin, and Bucher, and Heiner, C. and Pediatric, Infectious Disease Group of Switzerland and Swiss, Mother and Child, HIV Cohort Study. (2010) Long-term safety and effectiveness of lopinavir/ritonavir in antiretroviral-experienced HIV-1-infected children. Archives of disease in childhood, Vol. 95, no. 6. S. 478-481.

Schaad, . (2010) OM-85 BV, an immunostimulant in pediatric recurrent respiratory tract infections : a systematic review. World journal of pediatrics, Vol. 6, H. 1. S. 5-12.

Schifferli, Alexandra and von Vigier Rodo, O. and Fontana, Matteo and Spartà, Giuseppina and Schmid, Hans and Bianchetti, Mario G. and Rudin, Christoph and Swiss Pediatric Surveillance Unit, . (2010) Hemolytic-uremic syndrome in Switzerland : a nationwide surveillance 1997-2003. European Journal of Pediatrics, Vol. 169, H. 5. S. 591-598.

Swiss HIV Cohort Study, and Schoeni-Affolter, Franziska and Ledergerber, Bruno and Rickenbach, Martin and Rudin, Christoph and Günthard Huldrych, F. and Telenti, Amalio and Furrer, Hansjakob and Yerly, Sabine and Francioli, Patrick. (2010) Cohort profile: the Swiss HIV Cohort study. International journal of epidemiology, Vol. 39, H. 5. S. 1179-1189.

Thamrin, Cindy and Stern, Georgette and Frey, Urs. (2010) Fractals for physicians. Paediatric respiratory reviews, Vol. 11, H. 2. S. 123-131.

Thamrin, Cindy and Taylor, D. Robin and Jones, Stuart L. and Suki, Béla and Frey, Urs. (2010) Variability of lung function predicts loss of asthma control following withdrawal of inhaled corticosteroid treatment. Thorax, Vol. 65, no. 5. S. 403-408.

Urreizti, R. and Moya-García, A. A. and Pino-?ngeles, A. and Cozar, M. and Langkilde, A. and Fanhoe, U. and Esteves, C. and Arribas, J. and Vilaseca, M. A. and Pérez-Dueñas, B. and Pineda, M. and González, V. and Artuch, R. and Baldellou, A. and Vilarinho, L. and Fowler, B. and Ribes, A. and Sánchez-Jiménez, F. and Grinberg, D. and Balcells, S.. (2010) Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical genetics, Vol. 78, H. 5. S. 441-448.

van Kuilenburg, A. B. P. and Meijer, J. and Gökcay, G. and Baykal, T. and Rubio-Gozalbo, M. E. and Mul, A. N. P. M. and de Die-Smulders, C. E. M. and Weber, P. and Mori, A. Capone and Bierau, J. and Fowler, B. and Macke, K. and Sass, J. O. and Meinsma, R. and Hennermann, J. B. and Miny, P. and Zoetekouw, L. and Roelofsen, J. and Vijzelaar, R. and Nicolai, J. and Hennekam, R. C. M.. (2010) Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides, nucleotides & nucleic acids, Vol. 29, H. 4-6. S. 509-514.

2009

Emmert, S. and Ueda, T. and Zumsteg, U. and Weber, P. and Khan, S. G. and Oh, K. S. and Boyle, J. and Laspe, P. and Zachmann, K. and Boeckmann, L. and Kuschal, C. and Bircher, A. and Kraemer, K. H.. (2009) Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Experimental dermatology, Vol. 18. S. 64-8.

Filges, Isabel and Röthlisberger, Benno and Noppen, Christoph and Boesch, Nemya and Wenzel, Friedel and Necker, Judith and Binkert, Franz and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2009) Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33 : clinical and array-CGH study of a benign phenotype in a three-generation family. American journal of medical genetics, Vol. 149. S. 237-241.

Hammer, J. and Newth, C. J. L.. (2009) Assessment of thoraco-abdominal asynchrony. Paediatric respiratory reviews, Vol. 10, H. 2. S. 75-80.

Heininger, Ulrich and Kruker, Anna Tina and Bonhoeffer, Jan and Schaad, Urs B.. (2009) Human metapneumovirus infections - biannual epidemics and clinical findings in children in the region of Basel, Switzerland. European journal of pediatrics, Vol. 168, H. 12. S. 1455-1460.

Jakobson, L. S. and Frisk, V. and Trachsel, D. and O'Brien, K.. (2009) Visual and fine-motor outcomes in adolescent survivors of high-risk congenital diaphragmatic hernia who did not receive extracorporeal membrane oxygenation. Journal of perinatology, Vol. 29. S. 630-636.

Lerner-Ellis, Jordan P. and Anastasio, Natascia and Liu, Junhui and Coelho, David and Suormala, Terttu and Stucki, Martin and Loewy, Amanda D. and Gurd, Scott and Grundberg, Elin and Morel, Chantal F. and Watkins, David and Baumgartner, Matthias R. and Pastinen, Tomi and Rosenblatt, David S. and Fowler, Brian. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human mutation, Vol. 30, no. 7. S. 1072-1081.

Michaud, Pierre-André and Suris, Joan-Carles and Thomas, L. Ralph and Kahlert, Christian and Rudin, Christoph and Cheseaux, Jean-Jacques. (2009) To say or not to say : a qualitative study on the disclosure of their condition by human immunodeficiency virus-positive adolescents. Journal of adolescent health, Vol. 44. S. 356-362.

Miousse, Isabelle R. and Watkins, David and Coelho, David and Rupar, Tony and Crombez, Eric A. and Vilain, Eric and Bernstein, Jonathan A. and Cowan, Tina and Lee-Messer, Christopher and Enns, Gregory M. and Fowler, Brian and Rosenblatt, David S.. (2009) Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. The Journal of pediatrics, Vol. 154, H. 4. S. 551-556.

Myers, Catherine and Posfay-Barbe, Klara M. and Aebi, Christoph and Cheseaux, Jean-Jacques and Kind, Christian and Rudin, Christoph and Nadal, David and Siegrist, Claire-Anne. (2009) Determinants of vaccine immunity in the cohort of human immunodeficiency virus-infected children living in Switzerland. Pediatric infectious disease journal, Vol. 28. S. 996-1001.

Ratschmann, Rene and Minkov, Milen and Kis, Ana and Hung, Christina and Rupar, Tony and Mühl, Adolf and Fowler, Brian and Nexo, Ebba and Bodamer, Olaf A.. (2009) Transcobalamin II deficiency at birth. Molecular genetics and metabolism, Vol. 98, no. 3. S. 285-288.

Rutsch, Frank and Gailus, Susann and Miousse, Isabelle R. and Suormala, Terttu and Sagné, Corinne and Toliat, Mohammad Reza and Nürnberg, Gudrun and Wittkampf, Tanja and Buers, Insa and Sharifi, Azita and Stucki, Martin and Becker, Christian and Baumgartner, Matthias and Robenek, Horst and Marquardt, Thorsten and Höhne, Wolfgang and Gasnier, Bruno and Rosenblatt, David S. and Fowler, Brian and Nürnberg, Peter. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nature genetics, Vol. 41, H. 2. S. 234-239.

Schiller, Barbara and Hammer, Juerg and Barben, Juerg and Trachsel, Daniel. (2009) Comparability of a hand-held nitric oxide analyser with online and offline chemiluminescence-based nitric oxide measurement. Pediatric allergy and immunology, Vol. 20, H. 7. S. 679-685.

Siitonen, H. A. and Sotkasiira, J. and Biervliet, M. and Benmansour, A. and Capri, Y. and Cormier-Daire, V. and Crandall, B. and Hannula-Jouppi, K. and Hennekam, R. and Herzog, D. and Keymolen, K. and Lipsanen-Nyman, M. and Miny, P. and Plon, S. E. and Riedl, S. and Sarkar, A. and Vargas, F. R. and Verloes, A. and Wang, L. L. and Kääriäinen, H. and Kestilä, M.. (2009) The mutation spectrum in RECQL4 diseases. European journal of human genetics : EJHG : the official journal of the European Society of Human Genetics, Vol. 17. S. 151-158.

Stucki, Martin and Suormala, Terttu and Fowler, Brian and Valle, David and Baumgartner, Matthias R.. (2009) Cryptic exon activation by disruption of exon splice enhancer : novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of biological chemistry, Vol. 284, H. 42. S. 28953-28957.

Teoh, Oon Hoe and Trachsel, Daniel and Mei-Zahav, Meir and Selvadurai, Hiran. (2009) Exercise testing in children with lung diseases. Paediatric respiratory reviews, Vol. 10, H. 3. S. 99-104.

Wildi-Runge, Stefanie and Allemann, Simone and Schaad, Urs B. and Heininger, Ulrich. (2009) A 4-year study on clinical characteristics of children hospitalized with rotavirus gastroenteritis. European Journal of Pediatrics, Vol. 168, H. 11. S. 1343-1348.

van Kuilenburg, André B. P. and Meijer, Judith and Mul, Adri N. P. M. and Hennekam, Raoul C. M. and Hoovers, Jan M. N. and de Die-Smulders, Christine E. M. and Weber, Peter and Mori, Andrea Capone and Bierau, Jörgen and Fowler, Brian and Macke, Klaus and Sass, Jörn Oliver and Meinsma, Rutger and Hennermann, Julia B. and Miny, Peter and Zoetekouw, Lida and Vijzelaar, Raymon and Nicolai, Joost and Ylstra, Bauke and Rubio-Gozalbo, M. Estela. (2009) Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Human genetics, Vol. 125, H. 5-6. S. 581-590.

von Ungern-Sternberg, Britta S. and Trachsel, Daniel and Erb, Thomas O. and Hammer, Jürg. (2009) Forced expiratory flows and volumes in intubated and paralyzed infants and children : normative data up to 5 years of age. Journal of applied physiology, Vol. 107, no. 1. S. 105-111.

2008

Baer, Gurli and Schaad, Urs B. and Heininger, Ulrich. (2008) Clinical findings and unusual epidemiologic characteristics of human metapneumovirus infections in children in the region of Basel, Switzerland. European Journal of Pediatrics, Vol. 167, H. 1. S. 63-69.

Barben, J. and Kuehni, C. E. and Trachsel, D. and Hammer, J. and Swiss, Paediatric Respiratory Research Group. (2008) Management of acute bronchiolitis : can evidence based guidelines alter clinical practice? Thorax, Vol. 63, no. 12. S. 1103-1109.

Coelho, David and Suormala, Terttu and Stucki, Martin and Lerner-Ellis, Jordan P. and Rosenblatt, David S. and Newbold, Robert F. and Baumgartner, Matthias R. and Fowler, Brian. (2008) Gene identification for the cblD defect of vitamin B12 metabolism. The New England journal of medicine, Vol. 358, no. 14. S. 1454-1464.

Danne, T. and Battelino, T. and Jarosz-Chobot, P. and Kordonouri, O. and Pánkowska, E. and Ludvigsson, J. and Schober, E. and Kaprio, E. and Saukkonen, T. and Nicolino, M. and Tubiana-Rufi, N. and Klinkert, C. and Haberland, H. and Vazeou, A. and Madacsy, L. and Zangen, D. and Cherubini, V. and Rabbone, I. and Toni, S. and de Beaufort, C. and Bakker-van Waarde, W. and van den Berg, N. and Volkov, I. and Barrio, R. and Hanas, R. and Zumsteg, U. and Kuhlmann, B. and Aebi, C. and Schumacher, U. and Gschwend, S. and Hindmarsh, P. and Torres, M. and Shehadeh, N. and Phillip, M. and PedPump, Study Group. (2008) Establishing glycaemic control with continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes : experience of the PedPump Study in 17 countries. Diabetologia, Vol. 51, no. 9. S. 1594-1601.

Datta, Florence and Erb, Thomas and Heininger, Ulrich and Gervaix, Alain and Schaad, Urs B. and Berger, Christoph and Vaudaux, Bernard and Aebi, Christoph and Hitzler, Michael and Kind, Christian and Gnehm, Hanspeter E. and Frei, Reno and Pediatric Infectious Disease Group Switzerland Methicillin-Resis, . (2008) A multicenter, cross-sectional study on the prevalence and risk factors for nasal colonization with Staphylococcus aureus in patients admitted to children's hospitals in Switzerland. Clinical infectious diseases, Vol. 47, no. 7. S. 923-926.

Desax, M. C. and Ammann, R. A. and Hammer, J. and Schoeni, M. H. and Barben, J. and On, behalf of the Swiss Paediatric Respiratory Research Group. (2008) Nanoduct(R) sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis. European Journal of Pediatrics, Vol. 167, H. 3. S. 299-304.

Filges, I. and Röthlisberger, B. and Wenzel, F. and Heinimann, K. and Huber, A. R. and Miny, P.. (2008) Mosaic ring chromosome 8 : clinical and array-CGH findings in partial trisomy 8. American journal of medical genetics. Part A, Vol. 146, H. 21. S. 2837-2841.

Fowler, B. and Burlina, A. and Kozich, V. and Vianey-Saban, C.. (2008) Quality of analytical performance in inherited metabolic disorders : the role of ERNDIM. Journal of inherited metabolic disease, Vol. 31, no. 6. S. 680-689.

Fowler, B. and Leonard, J. V. and Baumgartner, M. R.. (2008) Causes of and diagnostic approach to methylmalonic acidurias. Journal of inherited metabolic disease, Vol. 31, no. 3. S. 350-360.

Fowler, Brian. (2008) Methylmalonic aciduria articles. Journal of inherited metabolic disease, Vol. 31, no. 1. S. 4.

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This list was generated on Mon Mar 27 03:52:10 2017 CEST.