Search Results - "Giedion, Andres"

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type by Bonafé, Luisa, Liang, Jinlong, Gorna, Maria W., Zhang, Qingyan, Ha-Vinh, Russia, Campos-Xavier, Ana Belinda, Unger, Sheila, Beckmann, Jacques S., Le Béchec, Antony, Stevenson, Brian, Giedion, Andres, Liu, Xuanzhu, Superti-Furga, Giulio, Wang, Wei, Spahr, André, Superti-Furga, Andrea

“…Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets‐like…”
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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips by Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.

“…Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and…”
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Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications by Schinzel, Albert, Riegel, Mariluce, Baumer, Alessandra, Superti-Furga, Andrea, Moreira, Lilia M.A., Santo, Layla D.E., Schiper, Patricia P., Carvalho, José Henrique Dantas, Giedion, Andres

“…Long‐term observations of individuals with the so‐called Langer–Giedion (LGS) or tricho–rhino‐phalangeal type II (TRPS2) are scarce. We report here a on…”
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Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II by Giedion, A

“…Phalangeal cone-shaped epiphyses are an ideal object for the radiologist to study with temporal reasoning, to examine their shape, diagnostic usefulness,…”
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder by Renella, Raffaele, Schaefer, Elke, LeMerrer, Martine, Alanay, Yasemin, Kandemir, Nurgun, Eich, Georg, Costa, Teresa, Ballhausen, Diana, Boltshauser, Eugen, Bonafé, Luisa, Giedion, Andres, Unger, Sheila, Superti-Furga, Andrea

“…Enchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is still provisional. Among…”
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Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias by Giedion, Andres

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia by Giedion, A

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Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "Lumping" by Superti-Furga, Andrea, Tenconi, Romano, Clementi, Maurizio, Eich, Georg, Steinmann, Beat, Boltshauser, Eugen, Giedion, Andres

“…Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz‐Jampel syndrome (SJS) of myotonia and skeletal…”
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Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one by Fanconi, S, Fischer, J A, Wieland, P, Atares, M, Fanconi, A, Giedion, A, Prader, A

“…We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of…”
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Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin by Fanconi, S, Fischer, J A, Wieland, P, Giedion, A, Boltshauser, E, Olah, A J, Landolt, A M, Prader, A

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Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation by Hunziker, U A, Savoldelli, G, Boltshauser, E, Giedion, A, Schinzel, A

“…A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora…”
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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) by Pihlajamaa, Tero, Prockop, Darwin J., Faber, Jörg, Winterpacht, Andreas, Zabel, Bernhard, Giedion, Andres, Wiesbauer, Peter, Spranger, Jürgen, Ala-Kokko, Leena

“…The original patient with the Weissenbacher‐Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2)…”
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Schwartz-Jampel syndrome type 2 and St ve-Wiedemann syndrome: A case for ?Lumping? by Superti-Furga, Andrea, Tenconi, Romano, Clementi, Maurizio, Eich, Georg, Steinmann, Beat, Boltshauser, Eugen, Giedion, Andres

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The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis by Poznanski, A K, Werder, E A, Giedion, A, Martin, A, Shaw, H

“…The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were…”
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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) by Pihlajamaa, Tero, Prockop, Darwin J., Faber, J rg, Winterpacht, Andreas, Zabel, Bernhard, Giedion, Andres, Wiesbauer, Peter, Spranger, J rgen, Ala-Kokko, Leena

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Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families by Chitayat, David, Grix, Art, Balfe, J. Williamson, Abramowicz, Jacques S., Garza, Judy, Fong, Chin-To, Silver, Meredith M., Saller Jr, Devereux N., Bresnick, George H., Giedion, Andres, Lachman, Ralph S., Rimoin, David L.

“…We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate…”
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