Search Results - (Author, Cooperation:G. P. Ramelli)

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  1. 1
    S. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-09-02
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young Adult
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Adverse drug reaction ; Erythema multiforme ; Herpes virus hominis ; Mycoplasma pneumoniae
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract A total of 42 children with erythema multiforme (aged 0.1 to 15.8 years, median 6.1 years) were treated between 1978 and 1997 at the Department of Paediatrics, University of Bern, Switzerland. Antecedent infections were noted in 30 cases: Mycoplasma pneumoniae infection (n = 14), acute upper respiratory tract disease (n = 10) and herpes simplex infection (n = 6). Four cases were associated with antecedent medication (n = 3) or immunization (n = 1). In 12 of the 30 patients in whom erythema multiforme followed an infectious disease, drugs described in the literature as inducers of erythema multiforme had been given for symptoms not suggestive of the condition. In the remaining eight children no precipitating agent could be detected. Conclusion In this survey infections were found as a definite or at least presumptive trigger of erythema multiforme in 71% of cases. Drugs (including immunization) implicated as triggers of erythema multiforme played a definite causative role in 10% and a presumptive role in a further 29% of patients. In 19% of patients an associated condition was not diagnosed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310051244

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1432-198X
    Keywords:
    Key words Hypocalcemia ; Magnesium deficiency ; Ionized magnesium ; Renal tubular transport ; Inborn errors
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract  Selective electrodes have been designed for determining plasma ionized magnesium. In kidney disease the relationship between ionized and total circulating magnesium is often altered. Hence plasma ionized magnesium (ETH 7025 membrane) was determined in 25 patients with primary renal tubular disorders; 6 patients had total hypomagnesemia. Total plasma magnesium was never reduced in the remaining 19 patients. Plasma ionized magnesium values were low in the 6 patients with total hypomagnesemia. In 18 of the 19 patients without total hypomagnesemia plasma ionized magnesium values were not reduced. Ionized hypomagnesemia was noted in a patient with normal total plasma magnesium in the context of hypercalciuric nephrocalcinosis of unknown origin. The study demonstrates an excellent concordance between plasma total and ionized magnesium in tubular disorders associated with total hypomagnesemia and a good concordance in tubular disorders that are not linked with total hypomagnesemia. The determination of circulating ionized magnesium is of little value in the diagnostic work-up of the vast majority of renal tubular disorders. The determination might perhaps disclose latent hypomagnesemia in nephrocalcinosis of unknown cause.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004670050561

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Metabolic alkalosis ; Pseudobartter syndrome ; Bartter syndrome ; Urinary chloride
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The aetiology of normotensive hypokalaemic metabolic alkalosis is sometimes not obtainable from the history. Observations in adults indicate that the urinary chloride excretion is low in metabolic alkalosis of extrarenal origin. The chloride/creatinine ratio in random urines was therefore compared in 283 healthy children and in eight paediatric patients with metabolic alkalosis. The urinary chloride/creatinine ratio was reduced in four patients with metabolic alkalosis of extrarenal origin and within reference values or above in four patients with metabolic alkalosis of renal origin. Conclusion The study confirms that urinary chloride/creatinine ratio discriminates between extrarenal and renal forms of metabolic alkalosis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01958641

    Articles: DFG German National Licenses
  5. 5
    Ramelli, G. P. ; Tönz, O. ; Zimmermann, A. ; Lentze, M. J.
    Springer
    Published 1991
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Sclerosing cholangitis ; Crohn disease ; Liver cirrhosis ; Adolescence
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract A 17-year-old patient suffering from Crohn disease (CD) and liver cirrhosis is presented. At an advanced stage of the disease, he died of a concomitant urosepsis. Autopsy showed that the liver cirrhosis was caused by sclerosing cholangitis. This very rare complication of CD in adolescence is discussed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02072206

    Articles: DFG German National Licenses