Hakutulokset - 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 Tekijä Antonio Rossi, Andrea Superti‐Furga

    Julkaistu 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 Tekijä Andrea Superti‐Furga, Sheila Unger

    Julkaistu 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. Tekijä B Steinmann, Peter Brückner, Andrea Superti‐Furga

    Julkaistu 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. Tekijä Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

    Julkaistu 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 Tekijä Chiara Paganini, Rossella Costantini, Andrea Superti‐Furga, Antonio Rossi

    Julkaistu 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 Tekijä Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, Peter H. Byers

    Julkaistu 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... Tekijä Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

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

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

    Julkaistu 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 Tekijä Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti‐Furga, Karim Gariani, Christel Tran

    Julkaistu 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 Tekijä Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta

    Julkaistu 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 Tekijä Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi, Lauréane Mittaz‐Crettol, Heidi Fodstad, Andrea Superti‐Furga

    Julkaistu 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? Tekijä Aurel T. Tankeu, Géraldine Van Winckel, Jolanda Elmers, Evrim Jaccard, Andrea Superti‐Furga, Barry Wolf, Christel Tran

    Julkaistu 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 Tekijä Sibylle Bierbaum, Renate Nickel, Anja Koch, Susanne Lau, Klaus A. Deichmann, Ulrich Wahn, Andrea Superti‐Furga, Andrea Heinzmann

    Julkaistu 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 Tekijä Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, Federica Vanoni, Andrea Superti‐Furga, Michaël Hofer, Carlo Rivolta

    Julkaistu 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 Tekijä Andreas Zankl, Lauren M. Pachman, Andrew K. Poznanski, Luisa Bonafé, Fengqiang Wang, Yelena Shusterman, David A. Fishman, Andrea Superti‐Furga

    Julkaistu 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 Tekijä Yoshikazu Nishi, Lynn Atley, David E Eyre, Jacob G. Edelson, Andrea Superti‐Furga, Toshiyuki Yasuda, Robert J. Desnick, Bruce D. Gelb

    Julkaistu 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 Tekijä Vincent J. Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti‐Furga, Pascale A. Cohen, Laurent Meijer, Pierre Colas

    Julkaistu 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 Tekijä Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

    Julkaistu 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 Tekijä Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valérie Cormier‐Daire, Sarah M. Nikkel, Gen Nishimura, Sheila Unger, Jürgen W. Spranger, Andrea Superti‐Furga, Bernhard Zabel

    Julkaistu 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 Tekijä 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

    Julkaistu 2001
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