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1

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer, Wim J. Kleijer, Richard Gitzelmann, Beat Steinmann, A. Superti-Furga

Journal:

Year:

1996

Language:

english

File:

PDF, 158 KB

english, 1996

2

Regulation of the c-Abl and Bcr–Abl Tyrosine Kinases

Hantschel, Oliver, Superti-Furga, Giulio

Journal:

Nature Reviews Molecular Cell Biology

Year:

2004

Language:

english

File:

PDF, 602 KB

english, 2004

3

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

Antonio Rossi, Andrea Superti-Furga

Journal:

Year:

2001

Language:

english

File:

PDF, 312 KB

english, 2001

4

A 17-month-old boy with bowed legs

Ivo Baric, Veselin Škrabic, Davor Begovic, Vladimir Sarnavka, Andrea Superti-Furga

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

5

Paul Ehrlich (1854-1915) and His Contributions to the Foundation and Birth of Translational Medicine

Valent, Peter, Groner, Bernd, Schumacher, Udo, Superti-Furga, Giulio, Busslinger, Meinrad, Kralovics, Robert, Zielinski, Christoph, Penninger, Josef M., Kerjaschki, Dontscho, Stingl, Georg, Smolen, Jo

Journal:

Journal of Innate Immunity

Year:

2016

Language:

english

File:

PDF, 463 KB

english, 2016

6

Control and fault analysis of multiport converters for low voltage DC distribution systems

Negri, Simone, Tironi, Enrico, Superti-Furga, Gabrio, Ubezio, Giovanni

Journal:

International Journal of Electrical Power & Energy Systems

Year:

2021

File:

PDF, 2.31 MB

2021

7

Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with manifestations of dysautonomia

M. Di Rocco, G. Stella, C. Bruno, L. Doria Lamba, M. Bado, A. Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 314 KB

english, 2003

8

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Russia Ha-Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos-Xavier, Andreas Zankl, Andrea Superti-Furga, Luisa Bonafé

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 154 KB

english, 2004

9

Nosology and classification of genetic skeletal disorders: 2006 revision

Andrea Superti-Furga, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

10

Filamin A mutation is one cause of FG syndrome

Sheila Unger, Anita Mainberger, Christian Spitz, Anna Bähr, Christine Zeschnigk, Bernhard Zabel, Andrea Superti-Furga, Deborah J. Morris-Rosendahl

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

11

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, Roel Smeets, Frans Trijbels, Hans H. Goebel, Nils Bosshard, Andrea Superti-Furga, Beat Steinmann, Jan Smeitink

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 345 KB

english, 2003

12

Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis

Heike Schützle, Johannes Forster, Andrea Superti-Furga, Reinhard Berner

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 153 KB

english, 2009

13

10.1038/44860

Way, Michael, Frischknecht, Friedrich, Moreau, Violaine, Röttger, Sabine, Gonfloni, Stefania, Reckmann, Inge, Superti-Furga, Giulio

Journal:

Year:

1999

Language:

english

File:

PDF, 244 KB

english, 1999

14

An intramolecular SH3-domain interaction regulates c-Abl activity

Baril´, Daniela, Superti-Furga, Giulio

Journal:

Nature Genetics

Year:

1998

File:

PDF, 373 KB

1998

15

Systems biology analysis of protein-drug interactions

Jacques Colinge, Uwe Rix, Keiryn L. Bennett, Giulio Superti-Furga

Journal:

PROTEOMICS - Clinical Applications

Year:

2012

Language:

english

File:

PDF, 501 KB

english, 2012

16

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in theDTDSTgene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

Timo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, Luisa Bonafé, Rolf E Brenner, Thomas Mattes

Journal:

BMC Musculoskeletal Disorders

Year:

2010

Language:

english

File:

PDF, 1.11 MB

english, 2010

17

Structural Basis for the Autoinhibition of c-Abl Tyrosine Kinase

Bhushan Nagar, Oliver Hantschel, Matthew A. Young, Klaus Scheffzek, Darren Veach, William Bornmann, Bayard Clarkson, Giulio Superti-Furga, John Kuriyan

Journal:

Year:

2003

Language:

english

File:

PDF, 748 KB

english, 2003

18

Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS

Varjosalo, Markku, Sacco, Roberto, Stukalov, Alexey, van Drogen, Audrey, Planyavsky, Melanie, Hauri, Simon, Aebersold, Ruedi, Bennett, Keiryn L, Colinge, Jacques, Gstaiger, Matthias, Superti-Furga, Gi

Journal:

Year:

2013

Language:

english

File:

PDF, 766 KB

english, 2013

19

Toward effective sharing of high-dimensional immunology data

Snijder, Berend, Kandasamy, Richard Kumaran, Superti-Furga, Giulio

Journal:

Nature Biotechnology

Year:

2014

Language:

english

File:

PDF, 1003 KB

english, 2014

20

KPC1-Mediated Ubiquitination and Proteasomal Processing of NF-κB1 p105 to p50 Restricts Tumor Growth

Kravtsova-Ivantsiv, Yelena, Shomer, Inna, Cohen-Kaplan, Victoria, Snijder, Berend, Superti-Furga, Giulio, Gonen, Hedva, Sommer, Thomas, Ziv, Tamar, Admon, Arie, Naroditsky, Inna, Jbara, Muhammad, Brik

Journal:

Year:

2015

Language:

english

File:

PDF, 5.01 MB

english, 2015

21

Augmented State Approach in Quasi-Sliding-Mode Controlled PEBB-Based Power Converters

Carmeli, Maria Stefania, Superti-Furga, Gabrio

Journal:

International Journal of Emerging Electric Power Systems

Year:

2014

Language:

english

File:

PDF, 891 KB

english, 2014

22

A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses

Köberlin, Marielle S., Snijder, Berend, Heinz, Leonhard X., Baumann, Christoph L., Fauster, Astrid, Vladimer, Gregory I., Gavin, Anne-Claude, Superti-Furga, Giulio

Journal:

Year:

2015

Language:

english

File:

PDF, 4.50 MB

english, 2015

23

A Modular Synthesis of Modified Phosphoanhydrides

Hofer, Alexandre, Cremosnik, Gregor S., Müller, André C., Giambruno, Roberto, Trefzer, Claudia, Superti-Furga, Giulio, Bennett, Keiryn L., Jessen, Henning J.

Journal:

Chemistry - A European Journal

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

24

Recent advances in combinatorial drug screening and synergy scoring

Pemovska, Tea, Bigenzahn, Johannes W, Superti-Furga, Giulio

Journal:

Current Opinion in Pharmacology

Year:

2018

Language:

english

File:

PDF, 784 KB

english, 2018

25

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien

Journal:

Year:

2020

Language:

english

File:

PDF, 2.19 MB

english, 2020

26

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

HÃ¤rter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti-Furga, Andrea, Scholl-BÃ¼rgi, Sabine

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 701 KB

english, 2020

27

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

Gariani, Karim, Nascimento, Marina, Superti-Furga, Andrea, Tran, Christel

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 546 KB

2020

28

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

Fingerhut, Ralph, RoÌschinger, Wulf, Muntau, Ania C, Dame, Torsten, Kreischer, Jens, Arnecke, Ralf, Superti-Furga, Andrea, Troxler, Heinz, Liebl, Bernhard, OlgemoÌller, Bernhard, Roscher, Adelbert A

Journal:

Clinical Chemistry

Year:

2001

File:

PDF, 246 KB

2001

29

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

Zabel, Bernhard, Hilbert, Katja, Stöß, Hartmut, Superti-Furga, Andrea, Spranger, Jürgen, Winterpacht, Andreas

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 669 KB

1996

30

A chondrodysplasia family produced by mutations in thediastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

Superti-Furga, Andrea, Rossi, Antonio, Steinmann, Beat, Gitzelmann, Richard

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 476 KB

1996

31

Schwartz-Jampel syndrome type 2 and St�ve-Wiedemann syndrome: A case for ?Lumping?

Superti-Furga, Andrea, Tenconi, Romano, Clementi, Maurizio, Eich, Georg, Steinmann, Beat, Boltshauser, Eugen, Giedion, Andres

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 377 KB

english, 1998

32

Clinical homogeneity of the St�ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

Cormier-Daire, V., Superti-Furga, A., Munnich, A., Lyonnet, S., Rustin, P., Delezoide, A.L., De Lonlay, P., Giedion, A., Maroteaux, P., Le Merrer, M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 217 KB

english, 1998

33

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

Bejjani, Bassem A., Oberg, Kerby C., Wilkins, Isabelle, Moise, Alicia, Langston, Claire, Superti-Furga, Andrea, Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

34

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X andCOL2A1 G973R) in the same individual

Sobetzko, Diana, Eich, Georg, Kalff-Suske, Martha, Grzeschik, Karl-Heinz, Superti-Furga, Andrea

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 218 KB

english, 2000

35

Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas

Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

36

Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature

U. Stucki, M.A. Spycher, G. Eich, A. Rossi, P. Sacher, B. Steinmann, A. Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

37

Molecular-pathogenetic classification of genetic disorders of the skeleton

Andrea Superti-Furga, Luisa Bonafé, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 179 KB

english, 2001

38

Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

Prof. Beat Steinmann, Andrea Superti-Furga, Helen I. Joller-Jemelka, Giuseppe Cetta, Peter H. Byers

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 451 KB

english, 1989

39

Prenatal diagnosis of boomerang dysplasia

Marja W. Wessels, Nicolette S. Den Hollander, Ronald R. De Krijger, Luisa Bonifé, Andrea Superti-Furga, Peter G. Nikkels, Patrick J. Willems

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 276 KB

english, 2003

40

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign

Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé, Stephen Robertson, Miki Susic, Andrea Superti-Furga, William G. Cole

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 211 KB

english, 2003

41

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

Andreas Zankl, Bernhard Zabel, Katja Hilbert, Gabi Wildhardt, Segoleine Cuenot, Belinda Xavier, Russia Ha-Vinh, Luisa Bonafé, Jürgen Spranger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 144 KB

english, 2004

42

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Andreas Zankl, Gudrun Jaeger, Luisa Bonafé, Eugen Boltshauser, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 60 KB

english, 2004

43

Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

Tiong Yang Tan, George McGillivray, Louise Kornman, A. Michelle Fink, Andrea Superti-Furga, Luisa Bonafé, David I. Francis, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

44

Spondylo-ocular syndrome: A new entity involving the eye and spine

Yasemin Alanay, Andrea Superti-Furga, Fatih Karel, Ergül Tunçbilek

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 194 KB

english, 2006

45

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

Kerstin Walter, Mojca Tansek, Edward S. Tobias, Shiro Ikegawa, Paul Coucke, James Hyland, Geert Mortier, Tsutomu Iwaya, Gen Nishimura, Andrea Superti-Furga, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 202 KB

english, 2007

46

A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: Comment on “A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dysplasia” by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]

Raffaele Renella, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

47

“Is NF1 a genetic skeletal disorder?”—A response

Sheila Unger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 52 KB

english, 2007

48

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

David Chitayat, Patrick Shannon, Sarah Keating, Ants Toi, Susan Blaser, Tami Friedberg, Andrea Superti-Furga, Karen Chong, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 330 KB

english, 2007

49

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father

F. Forzano, M. Lituania, A. Viassolo, V. Superti-Furga, G. Wildhardt, B. Zabel, F. Faravelli

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 369 KB

english, 2007

50

Holt–Oram syndrome associated with anomalies of the feet

L. Garavelli, D. De Brasi, R. Verri, E. Guareschi, F. Cariola, D. Melis, G. Calcagno, F. Salvatore, S. Unger, G. Sebastio, G. Albertini, F. Rivieri, F. Soli, A. Superti-Furga, M. Gentile

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

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