Iskani rezultati za avtorja

1

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

Izdano 2001

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2

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

Izdano 2006

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3

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

Izdano 1991

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

Izdano 1988

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5

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

Izdano 2019

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6

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

Izdano 2000

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7

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

Izdano 1996

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8

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

Izdano 2011

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9

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

Izdano 2023

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10

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

Izdano 2017

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11

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

Izdano 2021

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12

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

Izdano 2023

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13

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

Izdano 2005

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14

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

Izdano 2015

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15

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

Izdano 2006

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16

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

Izdano 1999

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17

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

Izdano 2013

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18

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

Izdano 2022

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19

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

Izdano 2009

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20

Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific od 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

Izdano 2001

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Rezultati - Andrea Superti‐Furga

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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