Søgeresultater - Andrea Superti‐Furga

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  1. 1
    Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

    Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance af Antonio Rossi, Andrea Superti‐Furga

    Udgivet 2001
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  2. 2
    Nosology and classification of genetic skeletal disorders: 2006 revision

    Nosology and classification of genetic skeletal disorders: 2006 revision af Andrea Superti‐Furga, Sheila Unger

    Udgivet 2006
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  3. 3
    Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

    Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. af B Steinmann, Peter Brückner, Andrea Superti‐Furga

    Udgivet 1991
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  4. 4
    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

    Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. af Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

    Udgivet 1988
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  5. 5
    Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

    Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view af Chiara Paganini, Rossella Costantini, Andrea Superti‐Furga, Antonio Rossi

    Udgivet 2019
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  6. 6
    Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

    Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type af Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, Peter H. Byers

    Udgivet 2000
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  7. 7
    Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter

    Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Tr... af Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

    Udgivet 1996
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  8. 8
    The dark sides of capillary morphogenesis gene 2

    The dark sides of capillary morphogenesis gene 2 af Julie Deuquet, Ekkehart Lausch, Andrea Superti‐Furga, Gijs R. van den Brink

    Udgivet 2011
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  9. 9
    Overweight and obesity in adult patients with phenylketonuria: a systematic review

    Overweight and obesity in adult patients with phenylketonuria: a systematic review af Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti‐Furga, Karim Gariani, Christel Tran

    Udgivet 2023
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  10. 10
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders af Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta

    Udgivet 2017
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  11. 11
    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations af Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi, Lauréane Mittaz‐Crettol, Heidi Fodstad, Andrea Superti‐Furga

    Udgivet 2021
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  12. 12
    Biotinidase deficiency: What have we learned in forty years?

    Biotinidase deficiency: What have we learned in forty years? af Aurel T. Tankeu, Géraldine Van Winckel, Jolanda Elmers, Evrim Jaccard, Andrea Superti‐Furga, Barry Wolf, Christel Tran

    Udgivet 2023
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  13. 13
    Polymorphisms and Haplotypes of Acid Mammalian Chitinase Are Associated with Bronchial Asthma

    Polymorphisms and Haplotypes of Acid Mammalian Chitinase Are Associated with Bronchial Asthma af Sibylle Bierbaum, Renate Nickel, Anja Koch, Susanne Lau, Klaus A. Deichmann, Ulrich Wahn, Andrea Superti‐Furga, Andrea Heinzmann

    Udgivet 2005
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  14. 14
    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome

    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome af Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, Federica Vanoni, Andrea Superti‐Furga, Michaël Hofer, Carlo Rivolta

    Udgivet 2015
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  15. 15
    Torg Syndrome Is Caused by Inactivating Mutations in <i>MMP2</i> and Is Allelic to NAO and Winchester Syndrome

    Torg Syndrome Is Caused by Inactivating Mutations in <i>MMP2</i> and Is Allelic to NAO and Winchester Syndrome af Andreas Zankl, Lauren M. Pachman, Andrew K. Poznanski, Luisa Bonafé, Fengqiang Wang, Yelena Shusterman, David A. Fishman, Andrea Superti‐Furga

    Udgivet 2006
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  16. 16
    Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation

    Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation af Yoshikazu Nishi, Lynn Atley, David E Eyre, Jacob G. Edelson, Andrea Superti‐Furga, Toshiyuki Yasuda, Robert J. Desnick, Bruce D. Gelb

    Udgivet 1999
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  17. 17
    CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

    CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome af Vincent J. Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti‐Furga, Pascale A. Cohen, Laurent Meijer, Pierre Colas

    Udgivet 2013
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  18. 18
    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity af Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

    Udgivet 2022
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  19. 19
    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia af Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valérie Cormier‐Daire, Sarah M. Nikkel, Gen Nishimura, Sheila Unger, Jürgen W. Spranger, Andrea Superti‐Furga, Bernhard Zabel

    Udgivet 2009
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  20. 20
    Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

    Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific af Ralph Fingerhut, Wulf Röschinger, Ania C. Muntau, Torsten Dame, Jens Kreischer, Ralf Arnecke, Andrea Superti‐Furga, Heinz Troxler, Bernhard Liebl, Bernhard Olgemöller, Adelbert A. Roscher

    Udgivet 2001
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