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Andres Giedion

[Subacute and chronic "symmetrical" osteomyelitis].
1972 · A Giedion, W Holthusen, et al. · PubMed · 414
Acute pulmonary X-ray changes in hyaline membrane disease treated with artificial ventilation and positive end-expiratory pressure (PEP)
1973 · A. Giedion, H. Haefliger, et al. · Pediatric Radiology · 168
Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
2003 · Jan Hellemans, Paul J. Coucke, et al. · The American Journal of Human Genetics · 149
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
1978 · A. Schinzel, A. Giedion · American Journal of Medical Genetics · 136
International classification of osteochondrodysplasias
1992 · The International Working Group on Constitutional Diseases of Bone, P. Beighton, et al. · European Journal of Pediatrics · 125
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.
1973 · A Giedion, M Burdea, et al. · PubMed · 108
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency
1976 · John S. O'Brien, E. Gugler, et al. · Clinical Genetics · 106
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
1995 · A. Superti-Furga, B. Steinmann, et al. · European Journal of Pediatrics · 102
The Pattern of Shortening of the Bones of the Hand in PHP and PPHP—A Comparison with Brachydactyly E, Turner Syndrome, and Acrodysostosis
1977 · Andrew K. Poznanski, Edmond A. Werder, et al. · Radiology · 94
RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms
2002 · L Bonafé, K Schmitt, et al. · Clinical Genetics · 91
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)
1998 · Tero Pihlajamaa, Darwin J. Prockop, et al. · American Journal of Medical Genetics · 84
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
1997 · A. Giedion, E. Boltshauser, et al. · European Journal of Pediatrics · 83
International classification of osteochondrodysplasias
1992 · P. Beighton, A Giedion, et al. · American Journal of Medical Genetics · 82
[Tricho-rhino-phalangeal syndrome].
1966 · A Giedion · PubMed · 77
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
2006 · Raffaele Renella, Elke Schaefer, et al. · American Journal of Medical Genetics Part A · 71
Cone-shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome.
1967 · A Giedion · PubMed · 64
Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications
2013 · Albert Schinzel, Mariluce Riegel, et al. · American Journal of Medical Genetics Part A · 62
Kenny syndrome: Evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
1986 · Sergio Fanconi, Jan A. Fischer, et al. · The Journal of Pediatrics · 54
Oto-spondylo-megaepiphyseal dysplasia (OSMED).
1982 · A Giedion, M Brandner, et al. · PubMed · 51
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.
1969 · D H Shmerling, A Prader, et al. · PubMed · 50
Clinical homogeneity of the Stüve‐Wiedemann syndrome and overlap with the Schwartz‐Jampel syndrome type 2
1998 · V. Cormier-Daire, A. Superti-Furga, et al. · American Journal of Medical Genetics · 48
Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases
1977 · HB Patriquin, P Kaplan, et al. · American Journal of Roentgenology · 48
Pediatric pelvis: radiographic appearance in various congenital disorders.
1992 · G F Eich, P Babyn, et al. · Radiographics · 47
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
1998 · Andres Giedion · Pediatric Radiology · 46
Schwartz-Jampel syndrome type 2 and St�ve-Wiedemann syndrome: A case for ?Lumping?
1998 · Andrea Superti-Furga, Romano Tenconi, et al. · American Journal of Medical Genetics · 46
Works count: 82
Citation count: 3,112
H-index: 31
I10-index: 52
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