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1
International nomenclature and classification of the osteochondrodysplasias (1997)
International nomenclature and classification of the osteochondrodysplasias (1997)
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International nomenclature and classification of the osteochondrodysplasias (1997)

Rimoin, D L ; Francomano, CA ; Giedion, A ; Hall, C ; Kaitila, I ; Cohn, D ; Gorlin, R ; Hall, J ; Horton, W ; Krakow, D ; Le Merrer, M ; Lachman, R ; Mundlos, S ; Poznanski, A K

American journal of medical genetics, 1998-10, Vol.79 (5), p.376-382

New York: John Wiley & Sons, Inc

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2
Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Hellemans, Jan ; Coucke, Paul J. ; Giedion, Andres ; Paepe, Anne De ; Kramer, Peter ; Beemer, Frits ; Mortier, Geert R.

American journal of human genetics, 2003-04, Vol.72 (4), p.1040-1046 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

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

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

Bonafé, L ; Schmitt, K ; Eich, G ; Giedion, A ; Superti-Furga, A

Clinical genetics, 2002-02, Vol.61 (2), p.146-151 [Periódico revisado por pares]

Oxford, UK: Blackwell Science, Ltd

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5
The weight of the fourth dimension for the diagnosis of genetic bone disease
The weight of the fourth dimension for the diagnosis of genetic bone disease
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The weight of the fourth dimension for the diagnosis of genetic bone disease

GIEDION, A

Pediatric radiology, 1994-11, Vol.24 (6), p.387-391 [Periódico revisado por pares]

Berlin: Springer

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6
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
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A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

SUPERTI-FURGA, A ; EICH, G ; BUCHER, H. U ; WISSER, J ; GIEDION, A ; GITZELMANN, R ; STEINMANN, B

European journal of pediatrics, 1995-03, Vol.154 (3), p.215-219 [Periódico revisado por pares]

Heidelberg: Springer

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7
Genetic bone disease: radiologic sight and insight
Genetic bone disease: radiologic sight and insight
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Genetic bone disease: radiologic sight and insight

GIEDION, A

American journal of roentgenology (1976), 1988-10, Vol.151 (4), p.651-657 [Periódico revisado por pares]

Leesburg, VA: American Roentgen Ray Society

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8
INTERNATIONAL CLASSIFICATION OF OSTEOCHONDRODYSPLASIAS
INTERNATIONAL CLASSIFICATION OF OSTEOCHONDRODYSPLASIAS
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INTERNATIONAL CLASSIFICATION OF OSTEOCHONDRODYSPLASIAS

SPRANGER, J ; BEIGHTON, P ; GIEDION, A ; GORLIN, R ; HALL, J ; HORTON, B ; KOZLOWSKI, K ; LACHMAN, R ; LANGER, LO ; MAROTEAUX, P ; POZNANSKI, A ; RIMOIN, DL ; SILLENCE, D

European journal of pediatrics, 1992-06, Vol.151 (6), p.407-415 [Periódico revisado por pares]

NEW YORK: Springer Nature

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9
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "Lumping"
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "Lumping"
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Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "Lumping"

Superti-Furga, Andrea ; Tenconi, Romano ; Clementi, Maurizio ; Eich, Georg ; Steinmann, Beat ; Boltshauser, Eugen ; Giedion, Andres

American journal of medical genetics, 1998-06, Vol.78 (2), p.150-154 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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10
A new type of a lethal osteochodrodysplasia with angel-shaped brachyphalangy
A new type of a lethal osteochodrodysplasia with angel-shaped brachyphalangy
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A new type of a lethal osteochodrodysplasia with angel-shaped brachyphalangy

CADUFF, R ; GIEDION, A ; BRINER, J ; MARTIN, E

Virchows Archiv : an international journal of pathology, 1994, Vol.424 (1), p.113-119 [Periódico revisado por pares]

Berlin: Springer

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