A. Giedion

发表

[Subacute and chronic "symmetrical" osteomyelitis].

D. Vischer, A. Giedion, W. Holthusen, 1972, Annales de radiologie.

Peripheral Dysostosis, Acrodysostosis and Thiemann??s Disease

A. Giedion, 1976 .

Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin.

E. Boltshauser, A. Landolt, S. Fanconi, 1988, The Journal of pediatrics.

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

G. Bresnick, D. Rimoin, D. Chitayat, 1997, American journal of medical genetics.

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency

J. Leroy, J. O'brien, A. Giedion, 1976, Clinical genetics.

Cone-shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome.

A. Giedion, 1967, Annales de radiologie.

International classification of osteochondrodysplasias

D. Sillence, A. Poznanski, P. Beighton, 1992, European Journal of Pediatrics.

International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone

D. Sillence, S. Mundlos, I. Kaitila, 1998 .

Case report 693

M. Spycher, Jakob Briner, A. Giedion, 2004, Skeletal Radiology.

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

L. Ala‐Kokko, E. Boltshauser, E. Jakkula, 2003, Journal of medical genetics.

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).

L. Ala‐Kokko, A. Winterpacht, D. Prockop, 1998, American journal of medical genetics.

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

S. Fanconi, J. Fischer, A. Giedion, 1986, The Journal of pediatrics.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

A. Munnich, P. Rustin, S. Lyonnet, 1998, American journal of medical genetics.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

R. Tenconi, M. Clementi, E. Boltshauser, 1998, American journal of medical genetics.

Radiology of Respiratory Distress in the Newborn

A. Giedion, 1977 .

Acute pulmonary X-ray changes in hyaline membrane disease treated with artificial ventilation and positive end-expiratory pressure (PEP)

A. Giedion, P. Dangel, H. Haefliger, 1973, Pediatric Radiology.

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

E. Boltshauser, A. Superti-Furga, L. Bonafė, 2006, American journal of medical genetics. Part A.

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Brian J. Stevenson, J. Beckmann, G. Superti-Furga, 2014, American journal of medical genetics. Part A.

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

A. Prader, A. Giedion, B. Hadorn, 1969, Helvetica paediatrica acta.

Total anomalous pulmonary venous return below the diaphragm.

E. Neuhauser, A. Giedion, G. Harris, 1960, The American journal of roentgenology, radium therapy, and nuclear medicine.

The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.

A. Poznanski, A. Giedion, E. Werder, 1977, Radiology.

Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII).

R. Gitzelmann, M. Spycher, A. Giedion, 1978, Helvetica paediatrica acta.

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

J. Opitz, A. Schinzel, J. Ryan, 1980, American journal of medical genetics.

[The lateral clavicle hook: its objective measurement and its diagnostic value in Holt-Oram syndrome, diastrophic dwarfism, thrombocytopenia-absent radius syndrome and trisomy 8].

A. Giedion, M. Igual, 1979, Annales de radiologie.

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.

A. Schinzel, A. Giedion, A. Schinzel, 1978, American journal of medical genetics.

A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy

R. Caduff, Jakob Briner, A. Giedion, 2004, Virchows Archiv.

Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

A. Bottani, A. Schinzel, R. Seger, 1991, Journal of medical genetics.

Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications

L. Moreira, A. Schinzel, A. Superti-Furga, 2013, American journal of medical genetics. Part A.

Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency

F. Grill, H. Lüdecke, S. Riedl, 2004, American journal of medical genetics. Part A.

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

A. Giedion, 1998, Pediatric Radiology.

[Peripheral dysostosis (PD)--a collective concept].

A. Giedion, 1969, Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin.

Oto-spondylo-megaepiphyseal dysplasia (OSMED).

A. Giedion, A. Prader, E. Zweymüller, 1982, Helvetica paediatrica acta.

Deleterious consequences of gastroesophageal reflux in cleft larynx surgery.

A. Giedion, J. Hirsig, E. Hof, 1987, Journal of pediatric surgery.

The weight of the fourth dimension for the diagnosis of genetic bone disease

A. Giedion, 2005, Pediatric Radiology.

RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms

A. Superti-Furga, L. Bonafė, A. Giedion, 2002, Clinical genetics.

[OSTEOCHALASIA DESMALIS FAMILIARIS. (HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS, CHRONIC IDIOPATHIC HYPERPHOSPHATASIA, OSTEOECTASIA AND MACROCRANIUM)].

G. Fanconi, G. Moreira, A. Giedion, 1964, Helvetica paediatrica acta.

Variation of quantitative and qualitative changes of enchondral ossification in heterozygous achondroplasia.

M. Spycher, J. Briner, A. Giedion, 1991, Pathology, research and practice.

The widened spectrum of multiple cartilaginous exostosis (MCE)

A. Giedion, R. Kesztler, F. Muggiasca, 1975, Pediatric Radiology.

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

H. Bucher, R. Gitzelmann, H. Bucher, 1995, European Journal of Pediatrics.

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

G. Mortier, J. Hellemans, A. De Paepe, 2003, American Journal of Human Genetics.

Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases.

H. Patriquin, A. Giedion, H. Kind, 1977, AJR. American journal of roentgenology.

[Retinal detachment in congenital spondyloepiphyseal dysplasia].

A. Giedion, R. Witmer, S. Lalive d'Epinay, 1969, Klinische Monatsblätter für Augenheilkunde.

Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes

A. Giedion, 1979, Pediatric Radiology.

Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease.

A. Giedion, 1976, Clinical orthopaedics and related research.

Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

T. Meloni, A. Giedion, M. Burdea, 1973, Helvetica paediatrica acta.

Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?

J. Hodler, B. Steinmann, G. Exner, 1996, American journal of medical genetics.

NEONATAL RESPIRATORY DISTRESS ASSOCIATED WITH A HIGH HAEMATOCRIT READING.

A. Giedion, 1964, Lancet.

[Tricho-rhino-phalangeal syndrome].

A. Giedion, 1966, Helvetica paediatrica acta.

Langer-Giedion syndrome.

M. Brandner, M. Cohen, R. Beals, 1974, Birth defects original article series.

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

A. Poznanski, L. Langer, A. Giedion, 1993, American journal of medical genetics.

[Metaphyseal dysostosis and congenital pancreatic insufficiency].

A. Prader, S. Auricchio, A. Giedion, 1968, Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin.

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

H. Fendel, E. Boltshauser, A. Superti-Furga, 1997, European Journal of Pediatrics.

Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

E. Boltshauser, A. Schinzel, U. Hunziker, 1989, Prenatal diagnosis.

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

G. Mortier, F. Beemer, A. Giedion, 2003, Journal of medical genetics.

epiphyses in the hands and hips recessive skeletal dysplasia with cone shaped Acrocapitofemoral dysplasia: an autosomal

G. Mortier, F. Beemer, A. Giedion, 2005 .

Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias

A. Giedion, 2002, Pediatric Radiology.

The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases.

G. Fanconi, G. Battaglia, A. Giedion, 1976, Helvetica paediatrica acta.

Pediatric pelvis: radiographic appearance in various congenital disorders.

P. Babyn, A. Giedion, G. Eich, 1992, Radiographics.

Differential diagnosis of Stickler syndrome

A. Giedion, 2001, Skeletal Radiology.

International nomenclature and classification of the osteochondrodysplasias (1997)

D. Sillence, I. Kaitila, D. Rimoin, 1998, Pediatric Radiology.

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

A. Giedion, 1997, Pediatric Radiology.