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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

Clinical genetics, 2002-02, Vol.61 (2), p.146-151

2002

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

Journal of medical genetics, 2003-12, Vol.40 (12), p.942-948

2003

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

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.200-203

2004

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

Journal of medical genetics, 2003-03, Vol.40 (3), p.201-207

2003

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

Pediatric radiology, 1994-11, Vol.24 (6), p.387-391

GIEDION, A

1994

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Household catastrophic health expenditures: a comparative analysis of twelve Latin American and Caribbean Countries

Salud pública de México, 2011, Vol.53 Suppl 2 (suppl 2), p.s85-s95

2011

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Differential diagnosis of Stickler syndrome

Skeletal radiology, 2001-06, Vol.30 (6), p.357-357

Giedion, A

2001

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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

European journal of pediatrics, 1995-03, Vol.154 (3), p.215-219

1995

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Pediatric radiology, 1997-05, Vol.27 (5), p.454-454

Giedion, A

1997

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

American journal of human genetics, 2003-04, Vol.72 (4), p.1040-1046

2003

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

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2216-2225

2013

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International classification of osteochondrodysplasias

European journal of pediatrics, 1992-06, Vol.151 (6), p.407-415

1992

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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

Pediatric radiology, 1998-10, Vol.28 (10), p.751-758

Giedion, A

1998

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Pediatric pelvis: radiographic appearance in various congenital disorders

Radiographics, 1992-05, Vol.12 (3), p.467-484

1992

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

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550

2006

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Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias

Pediatric radiology, 2002-03, Vol.32 (3), p.214-214

Giedion, Andres

2002

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

Virchows Archiv : an international journal of pathology, 1994, Vol.424 (1), p.113-119

1994

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Variation of Quantitative and Qualitative Changes of Enchondral Ossification in Heterozygous Achondroplasia

Pathology, research and practice, 1991-03, Vol.187 (2), p.271-278

1991

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Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease

Clinical orthopaedics and related research, 1976-01 (114), p.107-115

Giedion, A

1976

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

Pediatric radiology, 1979-01, Vol.8 (1), p.32-38

Giedion, A

1979

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

Journal of medical genetics, 1991-01, Vol.28 (1), p.56-59

1991

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Case report 693

Skeletal radiology, 1991-10, Vol.20 (7), p.534-538

1991

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

Annales de radiologie, 1967, Vol.10 (3), p.322

Giedion, A

1967

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

European journal of pediatrics, 1997-02, Vol.156 (3), p.214-223

1997

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

Radiology, 1977-06, Vol.123 (3), p.707-718

1977

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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

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

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

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

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

Household catastrophic health expenditures: a comparative analysis of twelve Latin American and Caribbean Countries

Differential diagnosis of Stickler syndrome

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

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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

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

International classification of osteochondrodysplasias

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

Pediatric pelvis: radiographic appearance in various congenital disorders

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

Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias

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

Variation of Quantitative and Qualitative Changes of Enchondral Ossification in Heterozygous Achondroplasia

Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease

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

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

Case report 693

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

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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

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