Giedion A - Search Results

1

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

Spranger JW, Schinzel A, Myers T, Ryan J, Giedion A, Opitz JM. Spranger JW, et al. Among authors: giedion a. Am J Med Genet. 1980;5(1):13-24. doi: 10.1002/ajmg.1320050104. Am J Med Genet. 1980. PMID: 7395897

2

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

Schinzel A, Giedion A. Schinzel A, et al. Among authors: giedion a. Am J Med Genet. 1978;1(4):361-75. doi: 10.1002/ajmg.1320010402. Am J Med Genet. 1978. PMID: 665725

3

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

Braegger C, Bottani A, Hallé F, Giedion A, Leumann E, Seger R, Willi U, Schinzel A. Braegger C, et al. Among authors: giedion a. J Med Genet. 1991 Jan;28(1):56-9. doi: 10.1136/jmg.28.1.56. J Med Genet. 1991. PMID: 1999836 Free PMC article.

4

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 DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Pihlajamaa T, et al. Among authors: giedion a. Am J Med Genet. 1998 Nov 2;80(2):115-20. doi: 10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9805126

5

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A. Schinzel A, et al. Among authors: giedion a. Am J Med Genet A. 2013 Sep;161A(9):2216-25. doi: 10.1002/ajmg.a.36062. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913778

6

Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.

Hunziker UA, Savoldelli G, Boltshauser E, Giedion A, Schinzel A. Hunziker UA, et al. Among authors: giedion a. Prenat Diagn. 1989 Feb;9(2):127-31. doi: 10.1002/pd.1970090208. Prenat Diagn. 1989. PMID: 2646626

7

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.

Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Giedion A, et al. Eur J Pediatr. 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. Eur J Pediatr. 1997. PMID: 9083764

8

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

Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A. Giedion A, et al. Am J Med Genet. 1993 Oct 1;47(5):765-71. doi: 10.1002/ajmg.1320470534. Am J Med Genet. 1993. PMID: 8267010

We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct …

We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to th …

9

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

Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A. Eich GF, et al. Among authors: giedion a. Am J Med Genet. 1996 May 3;63(1):62-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8723088

10

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

Mortier GR, Kramer PP, Giedion A, Beemer FA. Mortier GR, et al. Among authors: giedion a. J Med Genet. 2003 Mar;40(3):201-7. doi: 10.1136/jmg.40.3.201. J Med Genet. 2003. PMID: 12624140 Free PMC article. No abstract available.

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