Ngā hua rapu kaituhi

1

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

I whakaputaina 2001

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
2

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

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
3

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

I whakaputaina 1991

Whiwhi kuputuhi katoa
Artigo

Tiaki ki tētahi rārangi

I tiakina i:
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. mā Andrea Superti‐Furga, E Gugler, R Gitzelmann, B Steinmann

I whakaputaina 1988

Whiwhi kuputuhi katoa
Artigo

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5

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

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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6

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

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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... mā Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 2011

Whiwhi kuputuhi katoa
Revisão

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9

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

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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10

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

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

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

I whakaputaina 2023

Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
13

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

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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14

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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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I tiakina i:
15

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

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

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

I whakaputaina 1999

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

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

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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18

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

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

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

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

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

I whakaputaina 2001

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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Ngā hua rapu - Andrea Superti‐Furga

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

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

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

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

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

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

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders mā 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 mā 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? mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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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