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1

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Beighton, Peter, Paepe, Anne De, Steinmann, Beat, Tsipouras, Petros, Wenstrup, Richard J.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 125 KB

english, 1998

2

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:

Année:

1996

Langue:

english

Fichier:

PDF, 158 KB

english, 1996

3

Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers–Danlos syndrome

Dubacher, Nicolo, Münger, Justyna, Gorosabel, Maria C, Crabb, Jessica, Ksiazek, Agnieszka A, Caspar, Sylvan M, Bakker, Erik N T P, van Bavel, Ed, Ziegler, Urs, Carrel, Thierry, Steinmann, Beat, Zeisbe

Journal:

Cardiovascular Research

Année:

2019

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2019

4

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

István Magyar, Dvora Colman, Eliane Arnold, Daniela Baumgartner, Armand Bottani, Siv Fokstuen, Marie-Claude Addor, Wolfgang Berger, Thierry Carrel, Beat Steinmann, Gábor Mátyás

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 363 KB

english, 2009

5

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

Année:

2003

Langue:

english

Fichier:

PDF, 345 KB

english, 2003

6

High cell density alters the ratio of type III to I collagen synthesis by fibroblasts

ABE, SHIGETO, STEINMANN, BEAT U., WAHL, LARRY M., MARTIN, GEORGE R.

Journal:

Année:

1979

Fichier:

PDF, 450 KB

1979

7

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2016

8

Connective Tissue and Its Heritable Disorders || Skeletal Dysplasias Related to Defects in Sulfate Metabolism

Royce, Peter M., Steinmann, Beat

Année:

2002

Langue:

english

Fichier:

PDF, 472 KB

english, 2002

9

Connective Tissue and Its Heritable Disorders || The Ehlers-Danlos Syndrome

Royce, Peter M., Steinmann, Beat

Année:

2002

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2002

10

Connective Tissue and Its Heritable Disorders || The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix

Royce, Peter M., Steinmann, Beat

Année:

2002

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2002

11

Connective Tissue and Its Heritable Disorders || Epidermolysis Bullosa

Royce, Peter M., Steinmann, Beat

Année:

2002

Langue:

english

Fichier:

PDF, 786 KB

english, 2002

12

Is the clinical presentation of chronic heart failure different in elderly versus younger patients and those with preserved versus reduced ejection fraction?

Steinmann, Eva, Brunner-La Rocca, Hans-Peter, Maeder, Micha T., Kaufmann, Beat A., Pfisterer, Matthias, Rickenbacher, Peter

Journal:

European Journal of Internal Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 930 KB

english, 2018

13

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

Année:

1996

Fichier:

PDF, 476 KB

1996

14

Ehlers-Danlos syndrome type VIII and leukodystrophy

Spranger, Stephanie, Spranger, Matthias, Kirchhof, Klaus, Steinmann, Beat

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 205 KB

english, 1996

15

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

Année:

1998

Langue:

english

Fichier:

PDF, 377 KB

english, 1998

16

Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis

Jarisch, Andrea, Giunta, Cecilia, Zielen, Stefan, K�nig, Rainer, Steinmann, Beat

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 352 KB

english, 1998

17

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

Giunta, Cecilia, Steinmann, Beat

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 410 KB

english, 2000

18

The devil of the one letter code and the Ehlers-Danlos syndrome: Corrigendum

Beat Steinmann, Cecilia Giunta

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 42 KB

english, 2000

19

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

Daniela Baumgartner, Ingmar Gassner, Wolfgang Sperl, Mechtild Salzer-Kuntschik, Werner Judmaier, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 463 KB

english, 2001

20

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays

Cecilia Giunta, Beat Steinmann

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 304 KB

english, 2000

21

Invited editorial comment: Osteogenesis imperfecta: Update and perspective

Dr. Peter H. Byers, Jeffrey F. Bonadio, Beat Steinmann, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 538 KB

english, 1984

22

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

Année:

1989

Langue:

english

Fichier:

PDF, 451 KB

english, 1989

23

Earliest illustration of an aortic aneurysm by Albrecht von Haller

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 344 KB

english, 1993

24

Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism

Dr. Rena Petrella, Jack G. Rabinowitz, Beat Steinmann, Kurt Hirschhorn

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 1.31 MB

english, 1993

25

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature

Hailah Al-Hussain, Steffen M. Zeisberger, Peter R. Huber, Cecilia Giunta, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 147 KB

english, 2004

26

A splicing mutation in the α/β GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

Richard A. Steet, Roger Hullin, Mariko Kudo, Michele Martinelli, Nils U. Bosshard, Thomas Schaffner, Stuart Kornfeld, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 256 KB

english, 2005

27

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

Cecilia Giunta, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 145 KB

english, 2005

28

The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

Cecilia Giunta, Céline Chambaz, Marina Pedemonte, Sara Scapolan, Beat Steinmann

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 345 KB

english, 2008

29

Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis

Gábor Mátyás, Cecilia Giunta, Beat Steinmann, Johann Peter Hossle, Robert Hellwig

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 498 KB

english, 2002

30

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Prateek A. Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow-Keong Th

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 370 KB

english, 2002

31

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

Gábor Mátyás, Anne De Paepe, Dorothy Halliday, Catherine Boileau, Gerard Pals, Beat Steinmann

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 571 KB

english, 2002

32

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

Gábor Mátyás, Eliane Arnold, Thierry Carrel, Daniela Baumgartner, Catherine Boileau, Wolfgang Berger, Beat Steinmann

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 450 KB

english, 2006

33

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

Michael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, Hans Georg Koch, Andrea Superti-Furga, Beat Steinmann, Thomas Deufel, Erik Harms

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 511 KB

english, 2002

34

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe

René Santer, Johannes Rischewski, Michaela von Weihe, Marko Niederhaus, Sonja Schneppenheim, Kurt Baerlocher, Alfried Kohlschütter, Ania Muntau, Hans-Georg Posselt, Beat Steinmann, Reinhard Schneppenh

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 162 KB

english, 2005

35

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Wiktor Borozdin, Katharina Steinmann, Beate Albrecht, Armand Bottani, Koenraad Devriendt, Michael Leipoldt, Jürgen Kohlhase

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 357 KB

english, 2006

36

Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses

Michel Hochuli, Kurt Wüthrich, Beat Steinmann

Journal:

NMR in Biomedicine

Année:

2003

Langue:

english

Fichier:

PDF, 403 KB

english, 2003

37

Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism

Simon Pearce, Beat Steinmann

Journal:

Clinical Endocrinology

Année:

1999

Langue:

english

Fichier:

PDF, 30 KB

english, 1999

38

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen

Nicola J. Rose, Katrina Mackay, Anne Paepe, Beat Steinmann, Hope H. Punnett, Raymond Dalgleish

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 726 KB

english, 1994

39

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

Michael Raghunath, Andrea Superti-Furga, Maurice Godfrey, Beat Steinmann

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 1.40 MB

english, 1993

40

SSCP detection of a Gly565Val substitution in the proα(I) collagen chain resulting in osteogenesis imperfecta type II

Katrina Mackay, Allan M. Lund, Michael Raghunath, Beat Steinmann, Raymond Dalgleish

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 934 KB

english, 1993

41

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV

Andrea Superti-Furga, Beat Steinmann, Francesco Ramirez, Peter H. Byers

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 953 KB

english, 1989

42

Genetic counselling on brittle grounds: Recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

Michael Raghunath, Katrina Mackay, Raymond Dalgleish, Beat Steinmann

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 1.17 MB

english, 1995

43

Concluding remarks

Stanton Segal, Richard Gitzelmann, Beat Steinmann, Susanne Schweitzer, Kurt Ullrich

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 54 KB

english, 1995

44

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Martin R. Pollak, Yah-Huei Wu Chou, Stephen J. Marx, Beat Steinmann, David E. C. Cole, Maria Luisa Brandi, Socrates E. Papapoulos, Fred H. Menko, Geoffrey N. Hendy, Edward M. Brown, Christine E. Seidm

Journal:

Pediatric Nephrology

Année:

1995

Langue:

english

Fichier:

PDF, 123 KB

english, 1995

45

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of theLAMP2gene

Christian Balmer, Diana Ballhausen, Nils U. Bosshard, Beat Steinmann, Eugen Boltshauser, Urs Bauersfeld, Andrea Superti-Furga

Journal:

European Journal of Pediatrics

Année:

2005

Langue:

english

Fichier:

PDF, 411 KB

english, 2005

46

The Editorial Manager

Willem Proesmans, Beat Steinmann

Journal:

European Journal of Pediatrics

Année:

2005

Langue:

english

Fichier:

PDF, 106 KB

english, 2005

47

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Gábor Mátyás, Sira Alonso, Andrea Patrignani, Myriam Marti, Eliane Arnold, István Magyar, Caroline Henggeler, Thierry Carrel, Beat Steinmann, Wolfgang Berger

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 528 KB

english, 2007

48

Xanthinuria type I: a rare cause of urolithiasis

Nina Arikyants, Ashot Sarkissian, Albrecht Hesse, Thomas Eggermann, Ernst Leumann, Beat Steinmann

Journal:

Pediatric Nephrology

Année:

2007

Langue:

english

Fichier:

PDF, 164 KB

english, 2007

49

Fibrillin and Elastin Expression in Skin Regenerating From Cultured Keratinocyte Autografts: Morphogenesis of Microfibrils Begins At the Dermo-epidermal Junction and Precedes Elastic Fiber Formation.

Raghunath, Michael, Bachi, Thomas, Meuli, Martin, Altermatt, Stefan, Gobet, Rita, Bruckner-Tuderman, Leena, Steinmann, Beat

Journal:

The Journal of Investigative Dermatology

Année:

1996

Fichier:

PDF, 2.32 MB

1996

50

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII

Mayer, Karin, Kennerknecht, Ingo, Steinmann, Beat

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 151 KB

english, 2010