A Superti-Furga|P M Royce|B Steinmann - JoVE Visualize

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The Journal of Biological Chemistry|March 15, 1991

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.

Clinical Genetics|June 1, 1996

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.

Clinical Genetics|June 7, 2003

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafé, C Giunta, M Gassner, et al.

Connective Tissue Research|January 1, 1993

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.

The Journal of Bone and Joint Surgery. American Volume|March 12, 1999

Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.

Pediatric Research|October 1, 1994

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.

The Biochemical Journal|November 1, 1991

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.

American Journal of Human Genetics|March 1, 1991

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.

European Journal of Pediatrics|March 1, 1990

Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.

Pediatric Research|August 1, 1990

Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestationsP M Royce, B Steinmann

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Showing results (11-20 of 242) with videos related to

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Pageof 25

The Journal of Biological Chemistry|March 15, 1991

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.

Clinical Genetics|June 1, 1996

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.

Clinical Genetics|June 7, 2003

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafé, C Giunta, M Gassner, et al.

Connective Tissue Research|January 1, 1993

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.

The Journal of Bone and Joint Surgery. American Volume|March 12, 1999

Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.

Pediatric Research|October 1, 1994

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.

The Biochemical Journal|November 1, 1991

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.

American Journal of Human Genetics|March 1, 1991

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.

European Journal of Pediatrics|March 1, 1990

Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.

Pediatric Research|August 1, 1990

Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestationsP M Royce, B Steinmann

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