著者検索結果

1

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

出版事項 2001

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Artigo

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2

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

出版事項 2006

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Artigo

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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. 著者: B Steinmann, Peter Brückner, Andrea Superti‐Furga

出版事項 1991

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Artigo

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

出版事項 1988

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Artigo

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5

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

出版事項 2019

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Revisão

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6

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

出版事項 2000

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Artigo

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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... 著者: Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

出版事項 1996

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Artigo

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8

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

出版事項 2011

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Revisão

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9

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

出版事項 2023

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Revisão

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10

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

出版事項 2017

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Artigo

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11

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

出版事項 2021

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Artigo

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12

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

出版事項 2023

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Artigo

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13

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

出版事項 2005

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Artigo

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14

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

出版事項 2015

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Artigo

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15

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

出版事項 2006

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Artigo

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16

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

出版事項 1999

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Artigo

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17

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

出版事項 2013

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Artigo

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18

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

出版事項 2022

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Artigo

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19

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

出版事項 2009

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Artigo

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20

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

出版事項 2001

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Artigo

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検索結果 - Andrea Superti‐Furga

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

Nosology and classification of genetic skeletal disorders: 2006 revision 著者: 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. 著者: 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. 著者: Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

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

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type 著者: 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... 著者: Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

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

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

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders 著者: 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 著者: 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? 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: Vincent J. Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti‐Furga, Pascale A. Cohen, Laurent Meijer, Pierre Colas

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