Beat Steinmann

Research.com Recognitions

• 2003 - German National Academy of Sciences Leopoldina - Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften Gynaecology and Paediatrics

Overview

Best Publications

• LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

  Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  2623
  Citations

• Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997

  Peter Beighton;Anne De Paepe;Beat Steinmann;Petros Tsipouras

  2306
  Citations

• Connective tissue and its heritable disorders : molecular, genetic, and medical aspects

  Peter M. Royce;Beat U. Steinmann

  668
  Citations

• The Ehlers‐Danlos Syndrome

  Beat Steinmann;Peter M. Royce;Andrea Superti‐Furga

  625
  Citations

• Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

  B Steinmann;P Bruckner;A Superti-Furga

  403
  Citations

• Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

  Gwenaëlle Collod-Béroud;Saga Le Bourdelles;Lesley Ades;Lesley Ades;Leena Ala-Kokko;Leena Ala-Kokko

  399
  Citations

• Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

  René Santer;Reinhard Schneppenheim;Anja Dombrowski;Hermann Götze

  351
  Citations

• Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

  Yvonne Nitschke;Geneviève Baujat;Ulrike Botschen;Tanja Wittkampf

  335
  Citations

• Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

  Y Gong;Miikka Vikkula;L Boon;J Liu

  317
  Citations

• Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

  Tsipouras P;Del Mastro R;Sarfarazi M;Lee B

  306
  Citations

• In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

  M. Bai;S. H. S. Pearce;O. Kifor;S. Trivedi

  284
  Citations

• Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

  M R Pollak;Y H Chou;S J Marx;B Steinmann

  282
  Citations

• Disorders of Fructose Metabolism

  Beat Steinmann;René Santer

  248
  Citations

• Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

  Cecilia Giunta;Nursel H. Elçioglu;Beate Albrecht;Georg Eich

  234
  Citations

• Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

  Superti-Furga A;Superti-Furga A;Hästbacka J;Wilcox Wr;Cohn Dh

  232
  Citations

• Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

  Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

  232
  Citations

• 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.

  A Superti-Furga;E Gugler;R Gitzelmann;B Steinmann

  215
  Citations

• Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

  B Steinmann;V H Rao;A Vogel;P Bruckner

  210
  Citations

• Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

  B Steinmann;L Tuderman;L Peltonen;G R Martin

  202
  Citations

• The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

  René Santer;Sebastian Groth;Martina Kinner;Anja Dombrowski

  198
  Citations