Search Results - "STEINMANN, B"

Repeated and Time-Correlated Morphological Convergence in Cave-Dwelling Harvestmen (Opiliones, Laniatores) from Montane Western North America by Derkarabetian, Shahan, Steinmann, David B, Hedin, Marshal

“…Background: Many cave-dwelling animal species display similar morphologies (troglomorphism) that have evolved convergent within and among lineages under the…”
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A new troglomorphic species of Larca (Pseudoscorpiones, Larcidae) from Colorado by Harvey, Mark S, Steinmann, David B

“…A new species of is described from dry habitats in a cave in central Colorado. Like other cave-dwelling species of , the new species , shows relatively modest…”
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Global multi-hazard risk assessment in a changing climate by Stalhandske, Zélie, Steinmann, Carmen B., Meiler, Simona, Sauer, Inga J., Vogt, Thomas, Bresch, David N., Kropf, Chahan M.

“…Natural hazards pose significant risks to people and assets in many regions of the world. Quantifying associated risks is crucial for many applications such as…”
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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 by Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat

“…We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and…”
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Cave millipedes of the United States. XV. Coloradesmus gen. nov. (Diplopoda, Polydesmida, Macrosternodesmidae), and four new species from caves in Colorado, USA by Shear, William A, Steinmann, David B

“…Coloradesmus , gen. nov., is established in the family Macrosternodesmidae based on Speodesmus aquiliensis Shear, 1984, comb. nov. and includes four new…”
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Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA by Sarikaya, H., Yilmaz, M., Michael, N., Miserez, A. R., Steinmann, B., Baumgartner, R. W.

“…Background and purpose The etiology of stroke in young patients remains undetermined in up to half of the cases. Data on prevalence of Fabry disease (FD) in…”
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Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport by Santer, R, Steinmann, B, Schaub, J

“…Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare type of glycogen storage disease (GSD). It is caused by homozygous or compound heterozygous mutations…”
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Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy by Hoffmann, G. F., Schmitt, B., Windfuhr, M., Wagner, N., Strehl, H., Bagci, S., Franz, A. R., Mills, P. B., Clayton, P. T., Baumgartner, M. R., Steinmann, B., Bast, T., Wolf, N. I., Zschocke, J.

“…Summary Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to treatment with conventional…”
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Fanconi-Bickel syndrome : the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature by SANTER, R, SCHNEPPENHEIM, R, SUTER, D, SCHAUB, J, STEINMANN, B

“…Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the…”
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Elevated serum biotinidase activity in hepatic glycogen storage disorders-A convenient biomarker by Paesold-Burda, P, Baumgartner, M. R, Santer, R, Bosshard, N. U, Steinmann, B

“…An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to…”
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Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase by Steinmann, B, Bruckner, P, Superti-Furga, A

“…Peptidyl-prolyl cis-trans-isomerase accelerates otherwise slow, rate-limiting isomerization steps during folding of proteins in vitro, but is not yet securely…”
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A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village by Bonafé, L, Giunta, C, Gassner, M, Steinmann, B, Superti-Furga, A

“…In 1982, one of us reported a cluster of eight individuals affected by spondylocostal dysostosis (SD, MIM 277300) in four nuclear families indigenous to a…”
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Cardiovascular findings in arterial tortuosity syndrome by HOOP, R, STEINMANN, B, VALSANGIACOMO BUECHEL, E. R

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A generalized framework for designing open-source natural hazard parametric insurance by Steinmann, Carmen B., Guillod, Benoît P., Fairless, Christopher, Bresch, David N.

“…Parametric insurance schemes allow for payouts to be triggered by real-time hydro-/meteorological parameters instead of waiting for damage assessments, which…”
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Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation by Huisman, T A G M, Thiel, T, Steinmann, B, Zeilinger, G, Martin, E

“…Nonketotic hyperglycinemia (NKH) is an inborn error of amino acid metabolism caused by a defect in the glycine cleavage multienzyme complex resulting in high…”
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COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS by Wenstrup, Richard J., Florer, Jane B., Willing, Marcia C., Giunta, Cecilia, Steinmann, Beat, Young, Felix, Susic, Miki, Cole, William G.

“…We have identified haploinsufficiency of the COL5A1 gene that encodes the proα1(V) chain of type V collagen in the classical form of the Ehlers-Danlos syndrome…”
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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13 by GONG, Y, VIKKULA, M, DE PAEPE, A, SWOBODA, W, ZABEL, B, SUPERTI-FURGA, A, STEINMANN, B, BRUNNER, H. G, JANS, A, BOLES, R. G, ADKINS, W, VAN DEN BOOGAARD, M.-J, BOON, L, OLSEN, B. R, WARMAN, M. L, LIU, J, BEIGHTON, P, RAMESAR, R, PELTONEN, L, SOMER, H, HIROSE, T, DALLAPICCOLA, B

“…Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or…”
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Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation by Superti-Furga, Andrea, Neumann, Luitgard, Riebel, Thomas, Eich, Georg, Steinmann, Beat, Spranger, Jürgen, Kunze, Jürgen

“…We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders…”
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Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI by Steinmann, B, Eyre, D R, Shao, P

“…The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, affecting skin, ligaments, joints, blood vessels, and…”
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Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism by Pearce, Simon, Steinmann, Beat

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