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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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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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International classification of osteochondrodysplasias

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

1992

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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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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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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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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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Pacifier nipple (dummy) in pediatric radiology: (a) remote control pacifier; (b) radiological identification of pacifiers as a cause of intestianl obstruction

Annales de radiologie, 1968, Vol.11 (5), p.437

Giedion, A

1968

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

Pediatric radiology, 1973-10, Vol.1 (3), p.145-152

1973

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Thanatophoric dwarfism

Helvetica paediatrica acta, 1968-04, Vol.23 (2), p.175

Giedion, A

1968

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Deleterious consequences of gastroesophageal reflux in cleft larynx surgery

Journal of pediatric surgery, 1987-03, Vol.22 (3), p.197-199

1987

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Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insight

American journal of roentgenology (1976), 1988-10, Vol.151 (4), p.651-657

Giedion, A

1988

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

European journal of pediatrics, 1997-03, Vol.156 (3), p.214-223

1997

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Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome

Pediatric radiology, 1976-02, Vol.4 (2), p.96-102

1976

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A recurrent r718w mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pat oqenetic overlap with collagen IX mutations

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

2003

Volltextzugriff (PDF)

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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

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

International classification of osteochondrodysplasias

Pediatric pelvis: radiographic appearance in various congenital disorders

Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias

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

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

Pacifier nipple (dummy) in pediatric radiology: (a) remote control pacifier; (b) radiological identification of pacifiers as a cause of intestianl obstruction

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

Thanatophoric dwarfism

Deleterious consequences of gastroesophageal reflux in cleft larynx surgery

Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insight

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome

A recurrent r718w mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pat oqenetic overlap with collagen IX mutations

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