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A Giedion

Explore the profile of A Giedion including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 73
Citations 726
Followers 0
Related Specialties
Pediatrics
Radiology
Genetics
Top 10 Co-Authors
A PRADER
A Superti-Furga
E Boltshauser
G Eich
J Briner
A Schinzel
B Steinmann
D H SHMERLING
M A Spycher
S Fanconi
Published In
Helv Paediatr Acta
Am J Med Genet
Pediatr Radiol
Ann Radiol (Paris)
Fortschr Geb Rontgenstr Nuklearmed
Affiliations
Soon will be listed here.
Recent Articles
1.
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency
Riedl S, Giedion A, Schweitzer K, Mullner-Eidenbock A, Grill F, Frisch H, et al.
Am J Med Genet A . 2004 Nov; 131(2):200-3. PMID: 15523607
We report on a 10-year-old girl with tricho-rhino-phalangeal syndrome type II (TRPS II) and pronounced short stature (-4.8 SD). The patient has an interstitial chromosome 8q24.1 deletion of 12-15 Mb....
2.
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, et al.
J Med Genet . 2003 Dec; 40(12):942-8. PMID: 14684695
No abstract available.
3.
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
Mortier G, Kramer P, Giedion A, Beemer F
J Med Genet . 2003 Mar; 40(3):201-7. PMID: 12624140
No abstract available.
4.
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
Clin Genet . 2002 Apr; 61(2):146-51. PMID: 11940090
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that...
5.
Differential diagnosis of Stickler syndrome
Giedion A
Skeletal Radiol . 2001 Jul; 30(6):357. PMID: 11465779
No abstract available.
6.
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)
Pihlajamaa T, Prockop D, Faber J, Winterpacht A, Zabel B, Giedion A, et al.
Am J Med Genet . 1998 Nov; 80(2):115-20. PMID: 9805126
The original patient with the Weissenbacher-Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but...
7.
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
Giedion A
Pediatr Radiol . 1998 Nov; 28(10):751-8. PMID: 9799296
Phalangeal cone-shaped epiphyses are an ideal object for the radiologist to study with temporal reasoning, to examine their shape, diagnostic usefulness, natural history and effect on pathophysiology. Radiographs of the...
8.
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, et al.
Am J Med Genet . 1998 Jul; 78(2):150-4. PMID: 9674906
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder...
9.
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide A, et al.
Am J Med Genet . 1998 Jul; 78(2):146-9. PMID: 9674905
The Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by respiratory distress, hyperthermic episodes, and early lethality and radiologically by bowing of the long bones with internal cortical thickening and...
10.
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families
Chitayat D, Grix A, Balfe J, Abramowicz J, Garza J, Fong C, et al.
Am J Med Genet . 1998 Jan; 73(3):279-85. PMID: 9415685
We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and...